2009 vol 1: newsletter - hht foundation awards 3 research grants

Title: Genetic Modification of HHT Researcher: Rosemary Akhurst, PhD, University of California – San FranciscoSummary: This study will open up a whole new area of investigation and it addresses a fundamental question in

HHT, what gene(s) act in concert with endoglin and ALK1 to predispose certain patients to the development of PAVMs? This modifiable gene, in stark contrast to the original two genes (which are receptor genes and difficult to target for the formulation of therapeutic agents), may give us an easier pathway for treatment. It is the first study to be funded that partners basic laboratory research with clinical research. This study will be conducted in collaboration with HHT Centers in France and The Netherlands.

Title: Therapeutic Potential of VEGF Blockade in HHT Pathogenesis Researcher: S. Paul Oh, PhD, University of FloridaSummary: The drug (Avastin) blocks a protein (VEGF) that advances the development of artery

formation, called angiogenesis. It is Dr. Oh’s hypothesis that subjects with HHT produce more of this VEGF protein, and that this continued promotion of vessel development is key to the expression of the multiple defects. This would provide much needed additional insight to advance this particular drug for HHT therapeutic options (and perhaps warn us of potential risks). In addition, this study will investigate the relevance of this parameter in the disease process, give us disease understanding, and outline potential alternative targets for treatment pathways.

Title: Cross-talk between Alk1/Endoglin and Notch Signaling in HHTResearcher: Christopher Hughes, PhD, University of California - IrvineSummary: This is a new area of HHT study! It is clear that people from

families with identical gene defects experience multiple clinical types and levels of disease severity. In prior experiments, a series of proteins called “notch” have demonstrated in animals to produce defects in the walls of arteries, quite similar to those observed with ALK1 and endoglin. It may be that “notch” influences the clinical presentation of ALK1 defects in humans. Dr. Hughes proposes to use an elegant 3D system of vessel development. In the laboratory, developmental cells called “stem cells” (or the more matured “endothelial cells” which form the lining of our arteries) are injected into a gel substance after which these cells begin to curve together and form tubes; just the way our arteries begin to develop in our bodies. By altering the cells, for either or both ALK1 and notch, he can actually observe if there are interactions in the formation of these arterial tubes. If notch is relevant, we can begin to find drugs that affect notch, and see if it makes a difference in this very same tube-development model.

Direct Connection

For Family, Friends and Supporters

Hereditary Hemorrhagic Telangiectasia Foundation International, Inc.(Osler-Weber-Rendu Syndrome)

IN THIS ISSUE...Research Grants Awarded ........................................................1

Welcome New Board Members ................................................4

National Patient & Family Conference ............................... 6-11

HHT For Clinicians Conference ................................................12

HHT Treatment Centers ..........................................................13

HHT At A Glance .....................................................................13

Global Research & Medical Advisory Board ............................14

Scientific & Medical Update ............................................. 15-17

Research Update ....................................................................17

Our Story ................................................................................21

HHT in the Press .....................................................................22

HHT Fundraising .............................................................. 23-30

Legislative Update ........................................................... 30-31

Directory of Regional Networking Alliances ...........................32

Donations to the Foundation ........................................... 34-38

Membership/Donation Form .................................................39

In August, the HHT Foundation received nine applications for one $50,000 mechanism of disease grant. The research applications were outstanding! The research review committee scored each application and presented their recommendations of the top studies to be discussed for funding to the Board of Directors at the Patient and Family

Conference in Chicago. Over the course of a few hours, three very generous donors came forward and we were able to raise an additional $100,000 so that the work of three scientists could be funded to advance critical HHT Research!

HHT: Osler-Weber-Rendu

Thank you to everyone who has donated to the HHT Foundation research fund. These donations, along with three extraordinary donors who stepped up at the national conference, made these grants possible. We are also very appreciative of these researchers and all of the scientists interested in HHT research.

Together, we will make a difference in the lives of those affected by HHT!

Direct Connection HHT: Osler-Weber-Rendu

Published by:HHT Foundation International, Inc.

P.O. Box 329, Monkton, MD 21111 U.S.A.

TEL: 800-448-6389 (U.S.) | 410-357-9932 (Int’l)FAX: 410-357-0655

WEBSITE: www.hht.org E-MAIL: [email protected]

The HHT Foundation International, Inc. was formed to aid and support families with the genetic disorder Hereditary

Hemorrhagic Telangiectasia (Osler-Weber-Rendu Syndrome).

Please feel free to copy this newsletter and share with family, friends and physicians.

You can now use your credit card online to:

donate to our annual appeal campaign or make general donations,

register for conferences!

www.hht.org

I hope everyone had a healthy and happy holiday season. We know that our country is going through difficult times and that most of us are facing challenges not only to our health but also our financial well being. In the face of this, keeping the momentum that the HHT Foundation has gained this year must be maintained. (This newsletter will provide you with a picture of what has been accomplished). We all have too much at stake not to do everything we can to get people with HHT diagnosed, increase the effectiveness of treatment, and to find a cure.

I often refer to the families affected by HHT as the HHT Community. I recently looked at some definitions of community and found this one that I think most represents us. “A self-organized network of people with a common agenda, cause or interest, who collaborate by sharing ideas, information and other resources.” Our community not only includes affected families, but also includes the HHT Foundation staff, the doctors providing care in our Centers of Excellence, all doctors who are treating HHT patients, research scientists who are working to better understand HHT and produce a cure, and our HHT Foundation Board of Directors.

In order for this community to fulfill its intention, it is important for the members to give as well as receive, to provide as well as use. Some of you have made financial contributions. Those are greatly needed and greatly appreciated. I request that every member of this community see what financial support you can provide. As you know, we have been working diligently for Federal funding. We will be asking you to participate in this effort by communicating with your State Senator and local Representatives as we move this initiative forward. People who are extremely knowledgeable in the workings of the government tell us that this is the critical element in getting Federal funding.

What else can you do? Recently, CNN aired “CNN Heroes”. It showed some great examples of ordinary people who, through commitment and determination, made an extraordinary difference in the lives of others and achieved a level of personal satisfaction that was palpable. There are a number of people who are already HHT Heroes. We need more. How about you becoming one?

By Bob Berkman

Letter from the President HHT Foundation

Wish List

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Thank You to Our Contributing Sponsors

Interested in becoming a sponsor? Contact HHT for sponsorship opportunities and see how you can contribute today! 800-448-6389

Sponsorship and/or advertising in the HHT Foundation Direct Connection newsletter does not

constitute endorsement of any treatment or product by the HHT Foundation International.

2 new computers or the funds to purchase them (1) tower for the office (2) laptop for the office and offsite conferences / meetingsWebsite services – (1) programming (2) website managementLegal services – contract review prior to HHT functionsWriter – newsletter, PR campaign

Thank You to Foundation volunteer, Trish Linke, for providing the funding to purchase a new laptop computer!

HHT: Osler-Weber-Rendu Direct Connection 3

HHT FOUNDATION INTERNATIONAL

Marianne Clancy, Executive Director Monkton, MD

James Gossage, MD, Medical Director Augusta, GA

BOARD OF DIRECTORSRobert Berkman, President

Blufton, SC

Cheryl Wilson, Vice President Pineville, LA

Charles Atkins, Treasurer Alexandria, VA

John (Jack) McMahon, Secretary Downingtown, PA

Murray Brilliant, PhD Tucson, AZ

Debra Drysdale Newport Beach, CA

Michael Daly Longmeadow, MA

Diana Meiches Prides Crossing, MA

Parks Moss Savannah, GA

Michael Nolan Cork, Ireland

Scott Olitsky, MD Leawood, KS

Michael Pruitt, Esq. The Woodlands, TX

Joel Rosner Teaneck, NJ

Dennis Sprecher, M.D. Blue Bell, PA

INTERESTED IN SERVING ON OUR

BOARD OF DIRECTORS?Call the HHT office at

800-HHT-NETW or e-mail us at

[email protected].

Tell us your talents and how you feel you can

help move the foundation forward.

HHT Mission & Value StatementsOver the last 17 years, The HHT Foundation International, Inc. has grown from

its infancy — a small group of dedicated individuals organizing and planning around a kitchen table, to its young adolescent years, which we are currently in, just waiting to break free and truly spread our wings. Through these years of growth, the HHT Foundation has been able to clearly define its mission.

The Mission of the HHT Foundation International is to find a cure for HHT while saving the lives and improving the well-being of individuals and families affected by HHT.

To achieve this mission, the HHT Foundation will:

Fund research to find better treatments and a cure.

Educate families and physicians about HHT so that awareness of crucial diagnosis and available treatments prevents needless disability and death.

Provide linkages between people affected by HHT.

Collaborate with multidisciplinary HHT Treatment Centers worldwide while advocating for patient access to these Centers.

Advocate for and support those with HHT while increasing public, private, and governmental awareness of the disorder.

Engage the scientific and medical community so that talented individuals dedicate efforts toward advances in HHT screening, diagnosis, treatment, and research.

The HHT Board of Directors and Foundation staff live by this mission on a daily basis. Every project must meet at least one of our mission’s objectives. This mission acts as a beacon of light that we are always striving to reach.

In November 2008, the Board of Directors adopted an HHT Value Statement. A value statement is different from a mission statement in that it identifies characteristics that we want to be identified with as a Foundation verses actions we want to achieve. It is the sincere desire of the Board that all HHT Centers, physicians, researchers, staff, and members will incorporate these values into everything they do to advance the HHT mission.

HHT VALUES – characteristics that direct all of our thoughts and actions as we strive toward a common goal.

Compassionate

Ethical

Patient & Family Focused

Responsive

Results Oriented

Collaborative

Murray H. Brilliant, PhD, has been the Lindholm Professor of Genetics in the Department of Pediatrics at the University of Arizona College of Medicine since 1997. Dr. Brilliant chairs the Research Steering Committee of the

Department of Pediatrics and is the Director of the Genetics Graduate Program at the University of Arizona. Dr. Brilliant has over 25 years experience in molecular genetics with 60 publications in this area. In particular, his efforts have led to the identification of two of the four known genes involved in oculocutaneous albinism as well as the HPS1 gene associated with albinism plus a bleeding disorder. Recently, his laboratory has been working to develop a novel gene therapy approach to address the problems associated with vision in people with albinism.

Dr. Brilliant and his wife of 30 years, Leanne Schwartz, R.N., live in Tucson, Arizona. They have one daughter, Esther Brilliant, currently attending Law School at the University of Arizona. Dr. Brilliant diagnosed his own HHT in 1980, while still a graduate student. He is grateful to the HHT foundation and to Dr. Robert White for saving his life and those of his affected family members. He is committed to promoting the goals of the HHT foundation and to helping others affected by this disorder.

Diana R. Meiches has been the member of various Boards of Directors including the Loomis Communities (Massachusetts) and the Heart of America Shakespeare Festival (Missouri). She is a small business owner that has led fundraising efforts

for various 501(c)(3) entities including the HHT Foundation International, the Robert I. White, Jr. Professorship in Interventional Radiology at Yale University, and The Heart of America Shakespeare Festival.

Mrs. Meiches received an undergraduate business degree from the University of Nebraska and graduated cum laude from Villanova University School of Law. She has

utilized her business and legal degrees to enhance the financial operations of companies such as General Electric Company, Kidder Peabody & Co., Inc., and Herbert J. Sims & Co., Inc.

Ms. Meiches and her husband, Marc, live in Prides Crossing, Massachusetts. Marc has HHT and Diana is determined to use her skills and resources to raise money and awareness for this disorder. The Meiches have always been very committed to the HHT Foundation and we are honored to have Diana on our team.

Scott E. Olitsky, MD is the Chief of Ophthalmology at Children’s Mercy Hospitals and Clinics in Kansas City, Missouri and Director of Pediatric Ophthalmology at the University of Missouri. Dr. Olitsky has served on numerous committees

and boards for a variety of community service organizations, including but not limited to, Children’s Center for the Visually Impaired, the Blind Association of WNY, and the Learning Disability Committee NYSOS. He is also an accomplished author, with over 50 published articles, 5 books, and more than 30 book contributions; a teaching professor, and an international speaker. Dr. Olitsky has also designed the Olitsky Calibrated Needle Holder (Katena Products).

Dr. Olitsky and his family live in Leawood, Kansas. He is part of a family of five generations of HHT patients, including his three children. Scott has become passionate about making a difference in the lives of HHT patients. He is currently training to climb Mt. Kilimanjaro in an attempt to raise money and increase the awareness of HHT. Dr. Olitsky wants to use his experience and resources to advance novel therapies for nosebleeds. “The HHT Foundation and the doctors interested in this disease have done great things for people with HHT, including most of the people in my immediate family.” The HHT Foundation is grateful for Dr. Olitsky’s willingness to give back to the community and serve on the Board of Directors.

Michael K. Pruitt, Esq. is President of The Pruitt Group, Inc. Mike Pruitt has served ambulatory and acute care segments of the health care industry for over 30 years as a clinician, clinical manager, administrator, consultant, transactional health care attorney,

and large system executive. His focus over the past 18 years has been to create market and system-oriented strategies and to execute development initiatives designed to strengthen the providers operating in those arenas. His former employers have included for-profit and non-profit health systems and the nation’s largest niche health care law firm. Mike did his undergraduate work at the University of Florida and the Medical College of Georgia, completed his MHA at Duke University, and holds a Juris Doctorate from Valparaiso University. He is a member of the American Health Lawyers Association, and is a diplomate (CHE) in the American College of Healthcare Executives.

Mr. Pruitt and his family live in The Woodlands, Texas. Mike is very involved in Youth Soccer. He is the chair of the Strategic Planning Committee for the Montgomery County Youth Soccer Club and is the President of the Timberline Youth Soccer Association. Mr. Pruitt is excited to serve on the HHT Foundation Board of Directors. His expertise will fill a critical need as we begin to implement the expansion of HHT Centers throughout North America.

Remembering my mother, Ruth Ribicoff, and honoring her birth 100 years ago!

Ruth was a kind and warm-hearted person who suffered multiple, severe symptoms of HHT — interfering with her daily life and ending her life far too early.

Jane Ribicoff SilkPast President, HHT Foundation International

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With the advent of the New Year, I would like to take the time to reflect on this past year and the steps taken by the HHT Foundation International to move HHT forward on your behalf.

The Foundation has continued to build on supporting crucial research by funding a Young Investigator’s grant in search of the fourth HHT gene. Due to the incredible generosity of a few major donors, we were able to fund 3 basic research grants that are important in understanding why HHT

develops, why some organs are affected, and the potential of new drug therapies that must be proven in the laboratory before embarking on human experimentation. The nosebleed severity index study funded by the Foundation will be completed and reported on at the Scientific and Medical Conference in Spain in May 2009. The next step will be to fund a study that will scientifically test several different therapies to reduce the volume and intensity of your nosebleeds.

The addition of a part-time Medical Director has been a huge step forward for HHT and our work together will begin to produce tangible results for our community. Our first priority is to open two new HHT Centers of Excellence in 2009. We are involved in the launch of a North American Therapeutics Group that will primarily focus on new medications and therapies that will improve the quality of life for all of those with HHT. This group will also foster increased collaborations with the HHT Centers of Excellence.

The HHT Initiatives for the 21st Century Conference held in collaboration with the Centers of Disease Control was a landmark event that increased HHT’s profile among the leading medical and allied health organizations throughout North America. The results of the meeting will lay the groundwork for the types of initiatives that we will seek through our legislative advocacy in Congress.

The National Patient and Family Conference held in Chicago was the most engaging and exciting meeting that I have attended since my involvement with the Foundation! We were able to hold our first continuing medical education (CME) accredited conference for physicians and allied health professionals through a partnership with Northwestern University Feinberg School of Medicine and our HHT experts. Our family and patient conference provided a comprehensive patient focused program along with over 60 workshops throughout the weekend.

We will build upon these successes in 2009. Your support is needed through these turbulent economic times in order for the HHT Foundation to continue being an accessible, responsive, and results-oriented organization.

Best Wishes for a Happy and Healthy and New Year.

Marianne S. Clancy Executive Director

By Marianne S. ClancyExecutive Director Report

It’s a big title, Board Director, but what does it mean?

The Board of Directors oversee and direct the activities of the HHT Foundation. The HHT Foundation Board of Directors is an active position. As a group, the Board votes upon the annual budget and programs to be implemented. As individual board members, each person chairs a committee and serves on at least one other committee.

Why would the HHT Foundation want me?

We currently have 14 board members. Each board member plays a vital role in the function of the foundation. We need individuals with a variety of life experiences. Currently, we have board members with

experience in health care, medicine, genetics, legislation & advocacy, business, and law. We desperately need an individual(s) with marketing, public relations, media, and/or communications experience. We also need individuals willing to raise funds and/or nurture our local networking groups. You don’t have to be a corporate executive or even have HHT. What you need is a passion about HHT and a desire to make a difference!

What is required to serve on the Board of Directors?

All board members volunteer their time All board members are asked to attend two physical meetings every year and to participate on committee or board conference calls several times a year. Board members

are key to the success of every aspect of the foundation from our regional and national conferences to capitol hill activities to fundraising. We need Board Directors who are ready, willing, and able to commit themselves to at least a two-year term.

How do I move to the next step?If you are interested in learning more about

the HHT Foundation Board of Directors, please contact Jack McMahon, Nomination Committee Chair at [email protected]. Jack will be able to answer any questions you have. If at that point, you want to move toward becoming a board member, Jack will get you the appropriate paperwork and explain the nomination process.

It is that time of year again when the Nomination Committee puts a call out to our members. We NEED individuals willing to serve on the HHT Board of Directors


Nicole Schaefer, Director of OperationsAn amazing event…. Over 30 speakers, 16 general session lectures, and 60 workshops!Chicago is such an invigorating city with its

restaurants, museums, universities and parks. It is the heartbeat of the Midwest just like the Pa-tient & Family Conference is the heartbeat of the HHT Foundation. Our speakers and workshops were no less dynamic than the city itself.

The HHT Foundation, in coordination with the HHT Center at Washington University in St. Louis, Missouri, hosted the 14th National HHT Patient and Family Conference. Over 200 people converged on Chicago, Illinois in September to learn more about HHT. Each morning, HHT physicians presented an overview of the diagnosis, treatment, and management of HHT within their specialty. This was followed by an afternoon full of interactive, question and an-swer workshops. This year, there were over 60 workshops to choose from and many new topics were added to the program. Just as important as the lectures, however, was the social network-ing that took place every evening. On Friday, everyone enjoyed a cocktail reception and on Saturday, friends and family gathered at the gala celebration dinner and auction.

It is hard to explain the impact that a Patient and Family Conference has on your life, but these words come to mind…

Encouraging - The majority of those who traveled to Chicago had never been to an HHT conference before. Individuals are starting to get

through to their family about the importance of being informed about this disorder.

Informative – Not only do attendees have a better medical understanding of this disorder but they are more aware of all that the HHT Foundation does on their behalf.

Heart Wrenching – Some of the stories people

shared were hard to hear… stories of denial and tragedy. But, on the other end of that story there was always HOPE.

Inspiring – Who is not inspired by a 7 year old’s desire, dedication, and ability to raise over $1,500 for the HHT Foundation or by a mother determined to alter her family’s fate?

Motivating – Enthusiasm is contagious and it motivates us to be get involved and be part

of the solution, like become a family ambas-sador, write a Congressman/woman, educate a community physician, start a local support group, organize a fundraiser… the possibilities are endless!

Impressive – The Director, and in some cases staff, from every North American HHT Treat-ment Center was present at the conference. In addition, physicians from four medical institu-tions that are currently treating HHT patients and want to become an HHT Center of Excel-lence participated in the three day event.

Empowering – To be fully educated on this potentially life-threatening disorder is nothing short of empowering. Individuals now realize that they have the power to coordinate their health care, educate their community physi-cians, and advocate for themselves medically and legislatively.

Priceless – The relationships…patient to phy-sician, patient to patient, physician to physician, patient to Foundation, physician to Foundation. With these relationships, all things are possible!

Nicole Schaefer, Director of Operations

The mission of the HHT Foundation International is to find a cure for HHT while saving the lives and improving the well-being of individuals and families affected by HHT.To achieve this mission, the HHT Foundation

will:

Educate families and physicians about HHT so that awareness of crucial diagnosis and available treatments prevents needless disability and death – Over 200 individuals attended this year’s Patient and Family Conference, many of whom came as a family. In addition, 25 medical professionals participated in the first HHT Physician Conference. If each one of these people shares their knowledge about HHT with five other individuals, and so on, and so on, IMAGINE the impact of this conference! Families will be diagnosed, people will be treated, and lives will be saved.

Provide linkages between people affected by HHT – An indirect effect of every conference, whether it’s for patients or physicians, is to develop relationships. These relationships link

us to one another and create a bond that cannot be broken. Through our HHT connections we have the resources to make informed decisions, the support to get through difficult times, and access to knowledgeable medical professionals.

Collaborate with multidisciplinary HHT Treatment Centers worldwide while advocating for patient access to these centers – The Patient and Family Conference is the most visible collaboration of effort between the HHT Treatment Centers and the HHT Foundation. Although we partner throughout the year in many other ways, this is has the most direct impact on the largest number of people. The involvement and commitment of our treatment centers worldwide is a tremendous asset to the HHT Foundation and its members.

Engage the scientific and medical community so that talented individuals dedicate efforts toward advances in HHT screening, diagnosis, treatment, and research – Scientists and physicians become interested in HHT for a variety of reasons. Keeping their interest is

crucial to advancing HHT into the 21st Century and ultimately finding a cure. The patient and family conferences provide researchers something they can’t find in a lab - patient interaction – which has a significant impact on their desire to continue pursuing HHT research.

Fund research to find better treatments and a cure – This year, the HHT Foundation received nine applications for research and four of them were NIH quality. For the first time ever, we are able to fund the three most promising research projects through the extremely generous donations of our membership. Never before have we had individuals approach us at the conference and ask if they could fund a research project. Within a matter of hours, the HHT Foundation went from presenting one $50,000 research award to funding three awards, totaling $150,000!

Thank you to all of those who organized, attended, presented, exhibited, or sponsored the 14th Patient and Family Conference. As a team, we have advanced the HHT mission!


CORPORATE SPONSORS ARUP Labs Celgene University of Pennsylvania DNA Diagnostics Laboratory

CORPORATE DONORS Nosebud Total Promotions, Inc. Main Freight, Inc.

CORPORATE EXHIBITORS Ambry Genetics ARUP Labs Gage Phytolaboratories (NO BLEED) Terumo Interventional Systems

DONATED SERVICES Melissa Blackburn, Graphic Designer Karen Lange — Thank you for creating such a lovely collage for Dr. Faughnan’s tribute. Travis C. Berry, Photographer

SCHOLARSHIP DONATIONS Anonymous Donor Elliot and Carol Engberg Don and Debra Drysdale Michelle Mentges Patrick Stachelek Dr. Robert and Mrs. Pat Kelly White

RESEARCH GRANT DONORS Anonymous Donor Marc and Diana Meiches Michael Nolan and the Grace Nolan Foundation

VOLUNTEERS FROM THE CHICAGO AREA Sandy Lurie Art Lurie Lindsey Lurie Daryl Anisfeld Michael Anisfeld Ron Gaskins Rita Gaskins Lori Spangenberg Reta Kunz-Jankowski Byron Foster Lynne Sekarski Teri Colmar Cathy Ryder Ilene Cablk

The HHT Foundation International would like to thank a number of individuals and corporations who have contributed to the success of our 14th Patient and Family Conference.

Anonymous DonorChuck & Oranee AbbottMichael & Daryl AnisfeldMelissa BlackburnBea BreslawRichard ButlerMr. & Mrs. Craig ColmarDon & Deb DrysdaleBrian & Penny FifeDr. James GossageJohn HuisengaRichard HutmanJean JohnsonDr. Michele LetarteShirley LevineJennifer LewisMarge LewterDr. & Mrs. Steven LindheimArt & Sandy LurieJack & Ruth McMahonParks & Kathryn MossMike NolanAlexandra NowackBeth PlahnBrian ReedDennis & Maureen Routledge

Joelle SagnerJohn & Jane ShalamStephen & Jane SilkDolores SnyderVera SprecherDavid & Joanna StonerMatthew TilkerMichael & Nichol TimothyKaren Jo Whittlesey

Angelica BoutiqueARUP LabsBaltimore RavensBelfair Golf ClubBerkeley Golf ClubBlackburn ArtsCharlie Palmer SteakClyde’s RestaurantCookie Lee JewelryCoors LightDuffy Electric Boat CompanyEhrlooms Fine JewelryGreen Bay PackersHaig Point Golf ClubHHT Foundation International, Inc.

Hilton San FranciscoIndianapolis ColtsJimmy Kimmel LiveLaw Office of Don DrysdaleLong Cove Golf ClubManhattan BeachwareMarriott Newport Beach BayviewMrs. PrindablesPhoenix Park HotelRotenier, Ltd.

Spa Gregorie’sSt. John’s Coffee RoastersThe MonocleThe Scotch Malt Whisky SocietyUniversity of Pennsylvania DNA Diagnostic Lab

We have so many people to thank that have donated their time and talents throughout the year in preparing for this event. We are truly appreciative of your time and expertise. Thank you for making this conference a success!Conference Program Committee

Conference Auction Committee

Speakers

HHT Foundation Board of Directors

The HHT Foundation Staff and Members

Over 150 items were donated by Corporations, members, their families and friends, to support the mission of the HHT Foundation.


A Family of Devoted Sta! and Board Members Countless hours of planning and preparation goes into designing a

conference of this magnitude. Each person in our family had a job to do. Some were constantly moving audio visual equipment from one room to another. Others were working the sales and registration tables. Some were making copies. While others of us were ringing bells and keeping everything running on time. Without the camaraderie and commitment of these individuals, and their spouses, there would not be a Patient and Family Conference.

A Family of HHT MembersOne of the greatest

benefits of attending an HHT Patient and Family Conference is that you realize you are not alone. You can have a nosebleed and it’s ok, there’s Kleenex in every room! There is hope and inspiration in the stories. There is motivation to get involved and make a difference. And now, there are regional networking alliances designed to nurture these new found friendships and continue the conversations that were started in Chicago.

Families Coming Together for Di!erent Reasons

This year, more than other years, families came to the conference together… Husbands and wives, brothers and sisters, in-laws, aunts and nieces, parent and child. Although everyone received the same information at the conference, not everyone was there for the same reason.

14th National Patient and Family ConferenceHereditary Hemorrhagic Telangiectasia (HHT) is a family affair and

that was never more evident than at this year’s conference in Chicago, Illinois on September 26-28, 2008.

A Family of Physicians and Scientists

Over three days, twenty-six doctors specializing in Pediatrics, Pulmonology (Lung), Hematology (Blood), Gastroenterology (GI), Otolaryngology (ENT), Neurology (Brain), and Interventional Radiology presented the symptoms, manifestations, treatments and management of HHT in each area of the body. In addition, we heard from scientists currently performing studies in the area of HHT. The research ranged from the affects of antioxidants on HHT to the development of mouse models that mimic the pathological features of HHT to clinical trials testing novel drug therapies.

These physicians and scientists took a very complicated, multi-discipline, genetic disorder and broke it down into a medical condition that we can all understand. Although the fundamental basis of this disorder remains the same, the medical community is constantly fine tuning the treatment and management approaches. Eric Johnson, an HHT Foundation member from Farragut, Tennessee, commented, “I have attended the last 3-4 conferences and not one of them has been the same. The changes in treatment are huge just in the last two years!” This is because our family of physicians and scientists are dedicated to improving the lives of those affected by HHT.


Dr. Joshua Murphy, Dr. Andy White, Dr. Jay Piccirillo, Dr. Douglas Ross

Joel Rosner (Board Member), Sharon Williams (Legislative and RNA Manager) talking with Foundation members.

David Stoner (Board Alumni), Don Drysdale (Spouse), Diana Meiches (Board Member), Mary Leigh Krock (Membership Coordinator)

Paul Oh, PhD (US), Roberto Zarrabeitia, MD (Spain), Michelle Letarte, PhD (Canada), Marie Faughnan, MD (Canada), Carmelo Bernabeu, PhD (Spain), Bob White, MD (US)

HHT: Osler-Weber-Rendu Direct Connection

Family Needing Knowledge and Answers Ann Weaver is an

Immunization Nurse Consultant whose husband has HHT. Ann has six children. “My 20 year old son has some heart problems and I am so curious if HHT could have something to do with it. His twin sister has always had sharp pains in her right side and I wonder if she

could have telangiectasias or something in her intestines. My 10 year old has frequent nosebleeds and two of my triplets have telangiectasias visible on their face and hands.” As you can see, it was very important to Ann that she and two of her daughters come to this year’s conference.

Family Volunteering Together The key element to a successful

conference is volunteers, especially when the conference location is somewhere other than Monkton, MD. Sandy Lurie and Daryl Anisfeld are like family. They have known each other for years, raised their children together, and only recently found out that they both have HHT. Sandy and Daryl worked together to coordinate the auction activities in Chicago. However, each of them solicited the help of their family to make the event come together. Sandy and her husband, Art, donated a portion of the conference promotional items, gathered volunteers to stuff all of the conference bags, and organized several live/silent auction items. In addition, their daughter, Lindsey, helped decorate and organize the silent auction tables for the gala on Saturday night. Daryl and her husband, Mike, collected all of the auction items at their home and transported them to the conference. They also designed, printed, and packaged the Tribute Greeting Cards mentioned in this newsletter in an effort to raise awareness and money for the Foundation.

Thank you to both families for making this conference a success on so many levels!

Non-HHT Family Members Supporting their HHT Family In a family of

six daughters, four of them have HHT. However, it wasn’t until a few years ago that they even realized they had this disorder. One sister, Joyce Nock, discovered she had HHT with liver involvement, which ultimately took her life this past April. Ruth McMahon, Joyce’s sister, also has HHT. Ruth and her husband (HHT Board Secretary), Jack McMahon, attended the Chicago Conference to learn more about this disorder since they have taken on the role of Family Ambassador. What makes this story special is that Ruth’s sister Ethel, and Joyce’s husband, Cliff, both attended the conference and neither one of them have HHT. What a testimony of family bond and commitment . . . Ethel and her brother-in-law, Cliff, invested a lot of time into learning more about this genetic family disorder.

Overcoming Family TragedyAdriana Vera has had an

insurmountable amount of tragedy in her family. She and all of her siblings have HHT, along with her nieces and nephews. “My son, Robert, died in 2005 and my 11 year old, Sabrina, has AVMs in her brain, lungs, and liver. I have it in my lungs, liver, and GI but not in my brain.” Many of Adriana’s family members have died, suffered strokes, or experienced severe disability from this disorder. Adrianna and her brother-in-law, Yasuo, attended this conference with her daughter to learn as much as they could about this disorder in an attempt to alter the devastating medical history of their family. “My daughter and I met a lot of good people in Chicago. I would like to help in any way I can. The loss of my son haunts me everyday. Now I am in the same battle with Sabrina.”

Multi-Generation FamilyHHT is an autosomal

genetic disorder, meaning it doesn’t skip a generation. However, that doesn’t mean that every family is aware of the generational layers that exist in their family. It is truly something extraordinary to see multiple generations within a family educating themselves about a common condition. Instead of denying the existence of HHT, the Gatto/Castle family embraced it so that the next generation can be proactive with their medical care.

Mario and Rosa Gatto with their daughter, Ann Marie Castle, and her children.

Adriana Vera with her daughter, Sabrina, and brother-in-law, Yasuo Ito.

Ann Weaver with two of her six children

Ethel Achuff with her brother-in-law, Cliff Nock and sister, Ruth McMahon.

Sandy Lurie and Marianne Clancy

Daryl Anisfeld and Marianne Clancy

HHT is a family a!air and we wouldn’t want it any other way!


Thank you to Travis C. Berry, grandson of David and Clara Bartley Jordan, for volunteering to take photographs throughout the conference.

Travis C. Berry does not have HHT, instead, he suffers from spina bifida. However, Travis’ mother, Mary Berry, comes from an HHT family. She is the daughter of David and Clara Bartley Jordan who left a portion of their estate to the HHT Foundation which is now funding an Epistaxis Research Grant. Dr. Jeffrey Hoag, principle investigator at Drexel University in Philadelphia, PA, is developing a standardized epistaxis severity score that will help determine the viability of new epistaxis therapies.


Diane AschmanElisabetta Buscarini, M.D.Marie Faughnan, M.D, MSc.Urban Geisthoff, M.D.

James Gossage, M.D. Michelle Letarte, Ph.D.Paul Oh, Ph.D.Reed Pyeritz, M.D., Ph.D.

Karen Swanson, DOAndrew White, M.D.Robert I. White, Jr., M.D.

HHT for Clinicians Conference - Hereditary Hemorrhagic Telangiectasia (HHT): Diagnosis, Treatment and ManagementNicole Schaefer, Director of Operations

Education, Education, Education. That was our theme for 2008. It started with the CDC Conference in March and continued through the first every Accredited Physician Conference. The clinicians that attended this important educational event will impact the lives of thousands!

One of the most devastating statistics in HHT is that 9 out of 10 of the HHT population (68,000 US citizens) are not yet diagnosed due to the widespread lack of knowledge by medical professionals. This deficiency in the medical community can have catastrophic affects (i.e., stroke, disability or death) on an HHT family. In an effort to increase the identification of HHT through proper diagnosis and reduce the instance of mismanagement of the disorder, the HHT Foundation, in conjunction with the Northwestern University Feinberg School

of Medicine, planned and implemented this accredited physicians training program.

The “HHT for Clinicians” conference was a one-day event that ran concurrent with the Patient Conference. It was designed for medical professionals who are likely to encounter HHT patients, among them: internal medicine, otolaryngology, gastroenterology, cardiology, interventional radiology, neurology, genetic counseling, and nursing.

The program provided information that is critical to the clinician who is interested in starting a new HHT practice or expanding an existing HHT practice. There were presentations from HHT physicians from every HHT Center of Excellence in North America, as well as leading experts from Europe. Topics included, but were not limited to, genetics of HHT; HHT diagnosis, treatment and management for adults and children; management of anemia; medical treatment of epistaxis; and current research advances and opportunities. This was, by far, the most

comprehensive conference that the HHT Foundation has ever presented to the medical community!

Although the HHT for Clinicians Conference was a one-day event, two-thirds of the participants decided to join the Patient and Family Conference and stay through the weekend. The interaction with other HHT specialists, patients, and their families was an invaluable benefit of their experience. We are excited to have these individuals join our community and look forward to their continued involvement in HHT.

Upon conclusion of the conference, participants will be able to:

Define and describe the diagnostic criteria 1. for HHTDiscuss and identify treatment options for 2. Pulmonary and Cerebral AVMDiscuss and identify treatment options for 3. EpistaxisDiscuss and identify treatment options for 4. Gastrointestinal and Liver AVMDiscuss and demonstrate new potential 5. therapies for the management of refractory HHT complications

To the clinicians who participated in this conference, thank you for your willingness to learn about HHT.

To the physicians and researchers who volunteered their time, we truly appreciate your selfless commitment to the HHT Foundation and its community of patients and medical care providers.

To Dr. David Green, Professor of Medicine, Division of Hematology/Oncology at Northwestern University Feinberg School of Medicine (NWFSM), and the staff at the Northwestern University Office of Continuing Medical Education,

we express our profound gratitude. It is our hope and desire that this relationship continues to grow as we expand our medical education programs.

The HHT Foundation International would like to thank a number of individuals and corporations who have contributed to the success of our first HHT Clinician Conference.

GOLD SPONSOR - Cook, Inc.Since 1963, Cook has been a leader in developing health care devices that have improved lives around the world. With sales and marketing offices worldwide, they are at the forefront of medical research and product development in minimally invasive medical device technology for diagnostic and therapeutic procedures.

EDUCATIONAL GRANT - Gilead Sciences, Inc.Gilead Sciences, Inc. is a research-based biopharmaceutical company that discovers, develops and commercializes innovative medicines in areas of unmet need. With each new discovery and experimental drug candidate, they seek to improve the care of patients suffering from life-threatening diseases.

PROGRAM DESIGNERS AND PRESENTERS

A special thank you to Dr. James Gossage for his coordination of this very successful conference.


HHT at a Glance for Health Care ProvidersThis information can be photocopied and taken to your local physicians, pediatricians & dentists. It is also available at www.hht.org

CHINAThe First A!liated Hospital of China Medical University Shenyang86-24-83282447

DENMARKOdense University HospitalOdense045.63.20.2120

ENGLANDHammersmith HospitalLondon 44.208.383.3269

Hull Royal InfirmaryHull 44 (0) 1482-674608www.hey.nhs.uk/hht

FRANCEHospital Ambroise Pare Boulogne Billancourt Cedex 33-0140-94432

Service De Genetique Hotel Dieu, Lyon Cedex 02, 4-72-413295

GERMANYKrankenhaus Holwiede Kliniken der Stadt KoelnCologne49-221-8907-12727

University HNO-KlinikD-66421 Homburg/Saar 49-221-8907-12727

Philipps-University MarburgMarburg49-6421-2866808

Karl-Hansen Medical CenterBad Lippspringe49-5252-954302

HOLLANDSt. Antonius Ziekenhuis Nieuwegein31.30.609.9111www.renduoslerweber.nl

IRELANDMercy University HospitalCork353-21-2305040

ISRAELSchneider Children’s Medical Center of IsraelTel Aviv972-3-9253654

ITALYU.O. di Gastroenterologia ed Endoscopia Digestiva Ospendale Maggiore, Crema0039.0373.280422 / 280726

University of Bari, Bari39.080.5478708 www.hht-italia.com

JAPANAkita University Medical Center Akita81-18-834-111 ext. 6531

NORWAYRikshospitalet University Hospital, Oslo47-2307-5593

SPAINHospital SierrallanaTorrelavega (Cantabria)34-942-84740 (8053)

US, INTLHHT Foundation International 800-448-6389www.hht.org

ENGLANDwww.telangiectasia.co.uk

FRANCEwww.amro-france.org

GERMANYwww.mobus-osler.de

IRELANDwww.gracenolan.com

ISRAELMeira Heiman at [email protected] or [email protected]

ITALY (NORTHERN)[email protected]

ITALY (SOUTHERN)www.hhtonlus.com

SPAINwww.asociacionhht.org

Ambry GeneticsAliso Viejo, CA866-262-7943www.ambrygen.com ARUP LaboratoriesSalt Lake City, UT800-242-2787 ext. 3179www.aruplab.com

HHT Solutions, Inc.Toronto, Canada416-603-5597www.hhtsolutions.org

Molecular Genetics LaboratoryThe Hospital for Sick ChildrenToronto, Canada416-813-6590www.sickkids.ca/molecular/

University of PennsylvaniaPhiladelphia, PA215-573-5940www.med.upenn.edu/gdl//

Hereditary Hemorrhagic Telangiectasia (AKA Osler-Weber-Rendu) is a multi-system vascular dysplasia.

It is uncommon, but not rare. Approximately 1.2 million people worldwide have HHT.

Telangiectases and arteriovenous malformations (AVMs) are the characteristic lesions.

HHT has extremely variable expression in terms of both location of lesions and severity of symptoms.

It is frequently misdiagnosed in affected individuals.

The most commonly affected organs are nose, lungs, GI tract, brain and liver—in that order.

HHT is an autosomal dominant genetic disorder.

Denovo mutations are rare. A detailed family history shows most cases to be familial.

HHT is heterogeneic. Defects in two separate genes are known to cause HHT.

90-95% of individuals with HHT will develop epistaxis by adulthood, but severity varies from infrequent and minor to daily and severe.

90-95% develop at least a few telangiectasia on the skin of the face and/or hands by middle age, but they can be pin point in size.

20% develop significant gastric or intestinal bleeding, but not usually before the decade of the 50’s.

30% have pulmonary arteriovenous malformations (AVMs).

10-15% have at least one cerebral AVM.

An unknown percentage have hepatic AVM.

The severity of epistaxis or telangiectases of the skin does not correlate with the likelihood to have internal (i.e. Cerebral or pulmonary) AVMs.

Severity and symptomology varies tremendously, even between close relatives.

Untreated pulmonary AVMs are a common cause of ischemic stroke and brain abscess in HHT families.

Untreated cerebral AVMs are a common cause of hemorrhagic stroke in HHT families.

Treatments are available for all manifestations of HHT and have evolved significantly in the last decade.

HHT Treatment Centers Around the WorldNORTH AMERICA

INTERNATIONAL

HHT Patient Support Groups North American Genetic Laboratories

USAYale University School of MedicineNew Haven, CT203-737-5395 www.hhtavm.org

University of UtahSalt Lake City, UT Toll Free 866-292-4HHT (4448)healthcare.utah.edu/hht/

Oregon Health & Science University Portland, OR 503-494-7660 or 888-222-6478 ext. 7660 www.ohsu.edu/hht

Washington University School of MedicineSt. Louis, MO (Adults) 877-888-5864 or 314-454-8717(Pediatrics) 888-503-2237hht.im.wustl.edu

University of California Medical Center San Diego, CA 888-770-0296www.ucsdir.org

University of Pennsylvania Philadelphia, PA 215-662-4740www.uphs.upenn.edu/penngen Mayo Clinic HHT Center Rochester, MN 507-266-0416www.mayo.edu

Medical College of Georgia Augusta, GA 706-721-6791www.mcg.edu/som/medicine/Pulmonary/PulmVasDis.htm

CANADA Toronto HHT CenterUniversity of Toronto Toronto, Ontario 416-864-6060 ext. 2407hhttoronto.com

Pediatric HHT ClinicHospital for Sick ChildrenToronto, Ontario 416-813-5837

Edmonton HHT Centre University of Alberta 780-407-1479

Montreal HHT Center CHUM, Hotel Dieu514-890-8000 local 15672


Carmelo Bernabeu, Ph.D.Chair

Centro de Investigaciones Biologicas (Biochemistry)Madrid, Spain

Jamie McDonald, M.S., C.G.C.Vice Chair

University of Utah (Genetic Counselor) Salt Lake City, UT

Marie Faughnan, M.D., Chair Emeritus

St. Michael’s Hospital (Pulmonology)Toronto, Canada

Peter B. Terry, M.D., Past Vice-Chair

The Johns Hopkins Hospital (Pulmonology) Baltimore, M.D.

Robert I. White Jr., M.D.,Chair Emeritus

Yale University School of Medicine (Interventional Radiology)

New Haven, CT

Joyce Bischoff, Ph.D.Harvard Medical School/Children’s Hospital Boston

(Scientist)Boston, MA

Murray Brilliant, Ph.D.University of Arizona

(Molecular Genetics / Board Liaison)Tucson, AZ

Elisabetta Buscarini, M.D.Ospedale Maggiori (Gastroenterology/Hepatology)

Piacenza & Crema, Italy

Mark Chesnutt, M.D.Oregon Health and Science University (Pulmonology)

Portland, OR

Urban Geisthoff, M.D.Univ. HNO-Klinik (Otolaryngology)

Saar, Germany

Daniel Goodenberger, M.D.Dallas VAMC (Pulmonology)

Dallas, TX

Alan Guttmacher, M.D.National Institutes of Health (Medical Genetics)

Washington, D.C.

Timothy Hla, Ph.D.University of Connecticut Health Center

(Scientist)Farmington, CT

Luisa Iruela-Arispe, Ph.D.Molecular Biology Institute -UCLA (Scientist)

Los Angeles, CA

James Jackson, M.D., BS, MRCP, FRCPHammersmith Hospital (Interventional Radiology)

London, U.K.

Shelley Kennedy, M.S.Children’s Hospital of Eastern Ontario

(Genetic Counselor)Ottawa, Canada

Anette Kjeldsen, M.D.Odense University Hospital (Otolaryngology)

Odense, Denmark

Michelle Letarte, Ph.D.The Hospital for Sick Children

(Immunology / Scientist) Toronto, Canada

Susan Lewin, M.D.University of Utah (Medical Genetics)

Salt Lake City, UT

Dean Li, M.D., Ph.D.Eccles Institute of Human Genetics/University of

Utah (Scientist)Salt Lake City, UT

Jose Miguel Lopez-Novoa, Ph.D.University of Salamanca (Scientist)

Salamanca, Spain

Hans Jurgen Mager, M.D., Ph.D.St. Antonius Ziekenhuis (Pulmonology)

Amersfoort, The Netherlands

Douglas A. Marchuk, Ph.D.Duke University (Molecular Genetics / Scientist)

Durham, NC

Franklin J. Miller, M.D.University of California, San Diego

(Interventional Radiology)San Diego, CA

Christine Mummery, Ph.D.Hubrecht Laboratory (Scientist)

Utrecht, The Netherlands

Suk Paul Oh, Ph.D.University of Florida (Scientist)

Gainesville, FL

Daniel Picus, M.D.Washington University School of Medicine

(Interventional Radiology)Clayton, MO

Henri Plauchu, M.D., Ph.D.Hotel Dieu (Medical Genetics)

Lyon, France

Mary Porteous, M.D.Western General Hospital (Medical Genetics)

Edinburgh, U.K.

Deborah Proctor, M.D.Yale University School of Medicine

(Gastroenterology/Hepatology)New Haven, CT

Reed Pyeritz, M.D., Ph.D.University of Pennsylvania School of Medicine

(Medical Genetics)Philadelphia, PA

Douglas Ross, M.D.St. Vincent’s Hospital (Otolaryngology)

Bridgeport, CT

Carlo Sabba, M.D.University of Bari (Gastroenterology/Hepatology)

Bari, Italy

Claire Shovlin, M.D., MA, FRCP, Ph.D.NHLI/Imperial College (Pulmonology)

London, U.K

Dennis Sprecher, M.D.GlaxoSmithKline (Cardiology / Board Liaison),

King of Prussia, PA

Karel G. TerBrugge, M.D., FRCP. (C)University of Toronto (Interventional Neuroradiology)

Toronto, Canada

Calvin Vary, Ph.D.Maine Medical Center Research Institute (Scientist)

Pine Point, ME

C.J.J. Westermann, M.D., Ph.D.St. Antonius Ziekenhuis (Pulmonology)

Nieuwegein, The Netherlands

Lawrence Young, M.D.Yale University School of Medicine (Cardiology)

New Haven, CT

BECOME A MEMBER! 1. Renew your HHT Foundation membership each year. You can

automatically renew by credit card and avoid receiving renewal notices and mailing checks.

2. Gift Memberships are a wonderful way to support the Foundation while keeping family members or health care providers informed.

DONATE! 3. General Donations— Give whatever you can to support

the Foundation’s overall mission of education, advocacy, patient support, and research towards a cure.

4. Annual Appeal— Every December you will receive an Annual Appeal letter. Every gift counts! Does your company have a matching gift program? If so, you can double your contribution.

5. Tributes— Consider making a tax-deductible donation to the HHT Foundation in honor of your loved one’s birthday or anniversary. And, as the holidays roll around, how about honoring your friends and family with a tribute gift. We will notify the honoree and let them know of your generous contribution.

6. Memorials— Consider a donation to HHT Foundation in lieu of flowers to remember a loved one.

7. Name the HHT Foundation in Your Will— Call the Foundation office for more information.

MAKE USE OF UNITED WAY, COMBINED FEDERAL CAMPAIGN, OR OTHER GIVING PROGRAMS! 8. If your workplace has a United Way campaign, think of the

Foundation when you plan your giving. If you are in the U.S. military or a Federal employee, the CFC works just the same way. Use the Foundation’s CFC number to designate the HHT Foundation as the beneficiary of your payroll deduction program. CFC Number: 10233

USE THESE WEBSITESWe have established several partnerships with websites / organizations that provide a portion of their profits or sales to the HHT Foundation. We all shop online or search the internet. Did you know you could earn money for the Foundation doing these activities? We’re not asking you to buy or search for things you don’t need, but if you are going to search or shop online, please try the sites listed below. If every member began to use one or more of these sites on a regular basis, the money raised would increase exponentially. Give it a try!

9. www.goodsearch.com/ www.goodshop .com— Set GoodSearch.com as your home page default. GoodSearch is a search engine powered by Yahoo that donates 50% of its revenues to the charities and schools designated by its users. Spread the word to your friends and family and ask them to put www.goodsearch.com as their internet home page default. The more people use GoodSearch, the more money will be directed toward HHT. you can now shop on www.goodshop.com at stores like Target, Best Buy, Walmart, LL Bean and many more. Your purchase will earn .5%-4% of the purchase price which will be donated to the charity of your choice (i.e., HHT Foundation).

10. www.donationline.com/hht.htm— This website will accept donations for automobiles, boats, trucks, RV’s, motorcycles, jet skis, snowmobiles, planes, and real estate.

11. www.iGive.com— Shop 735 participating online stores with products for home or office (or gift cards) via this charitable website and a percentage of each purchase can be forwarded on to the Foundation. New iGive members earn extra money for their cause (HHT) just for joining.

12. www.morethancards.com/give— The holidays are quickly approaching and we all need cards. A percentage of the price of each card purchased is donated to the Foundation. Just click on the HHT logo under “Our Supported Foundations” and you’re on your way.

13. www.justgive.org or www.americanexpress.com/give—

You can easily donate to the Foundation via these websites. The American Express Program even lets you use your Rewards Points to give!

GET INVOLVED!14. Plan a Fundraising or Awareness Event—

You can plan an event any time of the year. Contact Sharon Williams at 800-448-6389 or by email at [email protected].

15. Volunteer Your Time— The HHT Foundation is always looking for volunteers to help start a Regional Networking Alliance, help with events, serve on the Board of Directors, or assist with your specific skills. Your time is a valuable contribution to the Foundation!

16. Tell Someone About HHT— It’s that simple! Share HHT Foundation materials, our number (800-448-6389), our website address (www.hht.org), our list of HHT Treatment Centers with family, friends, physicians, and dentists. Educate everyone you can!

How Can You Help the HHT Foundation International?

15 EASY WAYS TO GIVE

GLOBAL RESEARCH AND MEDICAL ADVISORY BOARD


We are pleased to announce that effective July 1, 2008, Ambry Genetics began to offer HHT Genetic Testing in North America.

Ambry Genetics is located in Aliso Viejo, CA and they are the primary genetic testing service for cystic fibrosis, pulmonary arterial hypertension, and many other genetic disorders. This laboratory is now able to test for HHT1, HHT2, and Juvenile Polyposis (SMAD4). The vast majority of testing done at Ambry is covered by insurance and they offer insurance pre-verification. Ambry Genetics can work with HHT Centers or primary care physicians. Their pricing is competitive with other laboratories and their turnaround time ranges from 10 days for a family mutation to

2-4 weeks for a proband.Steve Keiles, Director of Genetic Services

at Ambry Genetics, attended the HHT CDC Conference in March 2008. As the President-Elect for the National Society of Genetic Counselors, Mr. Keiles was inspired by the information presented at the HHT Health Initiatives for the 21st Century Conference. During that meeting, it became clear to him that his organization could play an active role in increasing the identification of those affected by HHT. Within months, Ambry Genetics was actively processing HHT samples! Thank you for your enthusiasm and commitment to this disorder.

For more information, please visit their website at www.ambrygen.com or call 866-262-7943.

Dr. Douglas Ross, our esteemed colleague who has pioneered many therapies for nosebleeds associated with HHT, has accepted a position at St. Vincent’s Hospital in Bridgeport, Connecticut, as Chairman of the Department of Surgery. St. Vincent’s is within twenty minutes of the Yale campus and Dr. Ross will remain a vital part of our HHT team. Beginning in November 2008, he resumed his specialized care for patients with HHT in his new location. If you have any questions, please call the Yale HHT Center of Excellence at 203-737-5395 or email us at [email protected].

SCIENTIFIC AND MEDICAL UPDATENew HHT Genetic Testing LaboratoryAmbry Genetics

Drug Safety AlertPhenylpropanolamine

The Food and Drug Administration (FDA) is issuing a public health advisory concerning phenylpropanolamine hydrochloride. This drug is widely used as a nasal decongestant (in over-the-counter and prescription drug products) and for weight control (in over-the-counter drug products). FDA is taking steps to remove phenylpropanolamine from all drug products and has requested that all drug companies discontinue marketing products containing phenylpropanolamine.

A recent study reported that taking phenylpropanolamine increases the risk of hemorrhagic stroke (bleeding into the brain or into tissue surrounding the brain). Although the risk of hemorrhagic stroke is very low, the FDA’s Nonprescription Drugs Advisory Committee (NDAC) determined that there is an association between phenylpropanolamine and hemorrhagic stroke and recommended that phenylpropanolamine not be considered safe for over-the-counter use.

In the meantime, consumers can identify over-the-counter cough-cold, nasal decongestant, and weight control products containing this

ingredient by looking for “phenylpropanolamine” in the list of active ingredients on the label. Consumers can check with their health care provider or pharmacist to see whether their prescription cough-cold or nasal decongestant product contains phenylpropanolamine. The FDA advises consumers to discuss alternative over-the-counter and prescription products with their health care providers or pharmacists.

According to Dr. James Gossage, HHT Foundation Medical Director, “It has only been associated with intracranial bleeding and HHT patients with cerebral AVM(s) would likely be at increased risk. HHT patients using this drug are not at risk of bleeding anywhere else.”

For more information, go to: www.fda.gov/CDER/drug/infopage/ppa/advisory.htm

Ambry GeneticsAliso Viejo, CA866-262-7943www.ambrygen.com ARUP LaboratoriesSalt Lake City, UT800-242-2787 ext. 3179www.aruplab.com

HHT Solutions, Inc.Toronto, Canada416-603-5597www.hhtsolutions.org

Molecular Genetics LaboratoryThe Hospital for Sick ChildrenToronto, Canada416-813-6590www.sickkids.ca/molecular/

University of PennsylvaniaPhiladelphia, PA215-573-5940www.med.upenn.edu/gdl//

North American Genetic Testing Laboratories

The following medications contain Phenylpropanolamine. This is not a complete list. Check your medication labels or contact your physician.

Acutrim Dietary productsAlka-Seltzer Plus productsBC allergy & sinusContac Cold productsDexatrim products

Dimetapp Cold productsRobitussin CFTavist-DTriaminic Cold products


In March 2008, the HHT Foundation held its first collaborative meeting with the Centers for Disease Control and Prevention (CDC). The goal of this conference was to define and prioritize ways to improve clinical outcomes, enhance the quality of life for those affected by HHT, and reduce intrinsic and extrinsic costs related to HHT treatment. We have achieved extraordinary accomplishments during the last nine months through the partnerships that were made at this conference. We truly appreciate the enthusiasm, support, and continued commitment that these individuals, professional associations, and companies have made on behalf of the HHT Community.

Dr. Leonard Valentino, Associate Professor of Pediatrics/Internal Medicine at RUSH University and President of the Hemophilia and Thrombosis Research Society (HTRS), arranged for the HHT Foundation to be an exhibitor at their 2008 Annual Scientific Symposium in Chicago, IL on April 17-19th. Marianne Clancy, Executive Director, and Nicole Schaefer, Director of Operations, will represent the Foundation, present an educational poster on HHT, and provide HHT literature to hundreds of Hematologists.

Through Dr. Valentino and the HTRS meeting, the HHT Foundation connected with Dr. David Green, Professor of Medicine, Division of Hematology/Oncology at Northwestern University Feinberg School of Medicine (NWFSM). Dr. Green currently treats several HHT patients in the Chicago area and agreed to sponsor our first accredited Physician Conference. Typically, a training program of this magnitude takes eighteen months to coordinate. However, through the tremendous efforts of Dr Green, the staff at Northwestern University and the HHT Foundation, along with our HHT specialists that agreed to present at the conference, this program was completed within five months! The Continuing Medical Education (CME) conference was very well received by the 25 attendees. Now, the Foundation has a template program and relationship with NWFSM that can be repeated across the country.

Dr. Valentino also wrote an article entitled, “Blood Flows Everywhere: Hereditary Hemorrhagic Telangiectasia” that was published in the American Academy of Pediatrics News journal. Dr. Valentino’s article describes with great detail the diagnostic criteria for HHT, the manifestations of HHT, and the genetics of the disorder. He went on to reference the CDC meeting and the importance of timely diagnosis and treatment. We applaud Dr. Valentino for his initiative and desire to make more pediatricians aware of HHT.

Steven Keiles, MS, CGC, Director of Genetic Services at Ambry Genetics, attended the CDC meeting and immediately recognized how his organization could play an active role in increasing the identification of those affected by HHT. Ambry Genetics is now performing genetic tests for HHT1, HHT2, and Juvenile Polyposis (SMAD4).

The CDC invited their Regional Hemophilia Treatment Center (HTC) Directors to attend the meeting in March. Of the eight centers that participated in the meeting, two have started to educate their staff about the incidence, symptoms, treatment of HHT. Indiana University and University of North Carolina, Chapel Hill hemophilia centers are starting to identify HHT as calls and patients come into their facility. The Directors of both HTCs have contacted Dr. Gossage, HHT Foundation Medical Director, about becoming an HHT Treatment Center of Excellence. We are excited about the possibilities of partnering with Hemophilia Thrombosis Centers throughout the

United States.This year, the 14th Patient and Family Conference provided

workshops on key issues facing families affected by HHT. Tia Campbell, RN, MSN, NCSN from the National Association of School Nurses attended the CDC meeting in March and graciously agreed to lead a workshop on Helping Your Child’s School Understand HHT. In addition, Ella Hushagen, Health Policy Analyst from FamiliesUSA, presented several informative workshops on medical insurance issues and resources. Ms. Hushagen went the extra mile and wrote a comprehensive article for this newsletter that highlights the materials she distributed during her workshop.

During the CDC meeting it was determined that, in order to increase our chances of receiving federal funding, the HHT Foundation needed a better understand the effectiveness and economic impact of education, research, and treatment options for HHT and other vascular or genetic conditions. In this capacity, Dr. Reed Pyeritz’ team at The University of Pennsylvania CIGHT study (which is explained in detail on page 19) will be collecting and analyzing data for four research projects, one of which is specific to HHT. Specifically, they will be examining the utilization & impact of a new diagnostic test for HHT.

Finally, in order to advance the HHT Initiative into the 21st Century, there is a critical need for the development of an HHT Physician Registry and a national database of HHT patients. The HHT Foundation is currently working with individuals in the HHT Community to determine the basic structure, purpose, and cost associated with the development of these two database systems. This project is a work in progress.

It is with sincere thanks and appreciation that we highlight these individuals and their activities with the HHT Foundation. We are constantly creating new relationships which, in turn, present new opportunities for us to pursue. We look forward to what 2009 has to offer!

SCIENTIFIC AND MEDICAL UPDATE

HHT Health Initiative for the 21st CenturyCDC Conference Update Nicole Schaefer, Director of Operations


Excerpt from BBC News

Dr. Joyce Bischoff, Scientist at Harvard Medical School and member of the HHT Foundation Global Research and Medical Advisory Board (GRMAB), recently conducted a study that was published in the journal Circulation Research, uses two types of “progenitor” cells, which have the ability, like stem cells, to form different cell types. In this case, the “endothelial” progenitor cells have the ability to form the cells which line blood vessels, while “mesenchymal” progenitor cells can form the cells adjacent to this lining, which help to support it. These progenitor cells were mixed together in growth-promoting chemicals in the laboratory, then implanted into mice whose immune systems had been weakened. Within seven days, a “vigorous network” of new vessels formed, joined up with the host animal’s blood vessels, and started transporting blood. The ability to develop swiftly a new network of tiny blood vessels known as capillaries, would be a prize for scientists. There are dozens of potential applications in medicine, particularly in the treatment of conditions which involve damage to a tissue’s blood supply, such as that to the heart muscle following a heart attack.

Dr. Joyce Bischoff, who lead the research team, said, “What’s really significant about our study is that we are using human cells that can be obtained from blood or bone marrow rather than removing and using fully developed blood vessels.”

Dr. Nick Rhodes, from the UK Centre for Tissue Engineering at the University of Liverpool, said that the results were “interesting” and “promising.” “Although this approach is not yet suitable for clinical use, it is interesting that they have demonstrated you have all the elements you need to create a functional network of capillaries from a small amount of blood.”

This type of research provides a critical foundation for future science and clinical studies that could potentially alter the symptomatic progression of HHT. Thank you, Dr. Bischoff, for your creativity and determination to impact the development of blood vessels — the very heart of this disorder.

Alan Edward Guttmacher, M.D., a nationally recognized pediatrician and medical geneticist who has played major leadership roles at the National Human Genome Research Institute (NHGRI) for nearly a decade, became Acting Director of NHGRI on Aug. 2, 2008. He replaces Francis S. Collins, M.D., Ph.D., who stepped down after 15 years at the helm of NHGRI to pursue other professional opportunities.

Dr. Alan Guttmacher is a highly valued member of the HHT Global Research and Medical Advisory Board and a long time friend of the HHT Foundation. He received the HHT Foundation International Scientific Leadership Award in 2006. It was Dr. Guttmacher that, together with Doug Marchuk, Ph.D., found the first HHT gene.

“Dr. Guttmacher has provided

excellent leadership for the institute, as well as participating in many trans-NIH efforts. His service as Acting Director at NHGRI will ensure a seamless transition,” said National Institutes of Health (NIH) Director, Elias A. Zerhouni, M.D., in naming Dr. Guttmacher to the post. “I am sure that you will join me in offering thanks and good wishes to Francis, as well as offering Alan full support as he takes on the additional responsibilities of guiding NHGRI.”

In addition to his involvement in spreading the word of genomics among health professionals, Dr. Guttmacher is instrumental in NHGRI’s efforts to reach out to the public. He has overseen NIH’s involvement in The U.S. Surgeon General’s Family History Initiative, an effort to encourage all Americans to learn about and use their families’ health histories to improve their health. In fact, you can print a copy of this Family History Tool from the HHT website, www.hht.org, or from the NIH website http://familyhistory.hhs.gov/.

It is with great pleasure that we congratulate Dr. Pinar Bayrak-Toydemir for her award of $20,000 for the 2008 Young Investigators Grant sponsored by the HHT Foundation International. Dr. Bayrak-Toydemir’s research is seeking to identify a caus-ative mutation, gene, or loci in patients/families with HHT for whom linkage to HHT1 and HHT2 loci have been excluded. Her proposal is focused on the discovery of gene(s) not yet identified as a molecular cause for the HHT disease. Her study is designed to identify molecular genetic character-istics of the HHT disease. The results of this research will provide new insight into blood vessel development by adding one piece to the puzzle that represents the current understanding of vascular development and dysfunction. This information will also be important for molecular diag-nosis of HHT patients and identification of at risk family members.

Dr. Bayrak-Toydemir’s proposal was deemed the strongest of all

of those submitted and in the words of the evaluators, “We were impressed by the commitment of the applicant to the field of HHT research, the research environment, and the design of the study. Investment in this work may lead to the identification of a fourth HHT causing gene.”

Dr. Bayrak-Toydemir is the Associate Medical Director of the Molecular Genetics Laboratory at ARUP. Dr. Bayrak-Toydemir received her M.D. from Ankara University School of Medicine in Ankara, Turkey, where she also received her Ph.D. in Human Genetics. As a second year Assistant Professor of Pathology at the University of Utah, she states, “It is an honor to be the recipient of the 2008 Young Investigator’s Grant sponsored by the HHT Foundation International. I will work hard to find the fourth HHT-causing gene!”

Thank you, Dr. Bayrak-Toydemir, for your dedication to HHT and determination to find the molecular cause of this disorder. We are proud to have you on our team and look forward to hearing about your findings.

SCIENTIFIC AND MEDICAL UPDATE

RESEARCH UPDATENATIONAL HUMAN GENOME RESEARCH INSTITUTE

Alan E. Guttmacher, M.D., Becomes NHGRI’s Acting DirectorGeneticist Will Lead Efforts to Bring the Promise of Genomic Science to Health Care

Human Blood Vessels Grown in Mice

Young Investigator Grant Awarded to Pinar Bayrak-Toydemir, M.D., Ph.D.


Reprinted from Chicago Conference handouts —

To date, the HHT Foundation has funded 9 mechanism of disease research grants and 2 treatment of disease research grants—six have been completed, two are in progress, and three have just been awarded – for a total of $454,375! Each of these studies has taken HHT to the next step in identifying, diagnosing, and treating this disorder. The most recently completed studies are summarized below.

Study: TGF- Activates eNOS and Regulates Vasomotor Function by an Endoglin- and ALK-1- Dependent MechanismResearcher: Michelle Letarte, PhD, Senior Scientist, Molecular Structure and Function Program, Hospital for Sick Children and Professor of Immunology, Medical Biophysics and PediatricsAmount Awarded: $50,000Summary: The Endoglin and ALK1 genes are mutated in HHT1 and HHT2 respectively. The Endoglin and ALK1 proteins are encoded by their respective genes and are the functional molecules in the cells. Both proteins are found mostly in endothelial cells, which line the blood vessels. Endoglin and ALK1 in fact interact with one another at the surface of the cells and are therefore involved in related molecular pathways. Both proteins are receptors for growth factors called TGF- 1 and BMP9, which are very important for blood vessel functions. Our studies have shown that Endoglin binds to an enzyme called eNOS (endothelial Nitric Oxide Synthase) which is responsible for the production of Nitric Oxide (NO). This NO is the most potent vasodilator and is responsible for blood vessel relaxation. We have also shown that TGF- 1 and BMP9 can stimulate eNOS and the release of NO, and therefore regulate this function of blood vessels. So under normal circumstances, there is a big complex in the endothelial cells comprised of Endoglin, ALK1 plus other receptors and the eNOS machinery. This large complex allows the blood vessels to dilate in response to TGF- 1 and BMP9.

In HHT1, the cells have a mutation in the Endoglin gene, and produce half the amount of endoglin protein, as we showed previously. In HHT2, the cells have an ALK1 mutation, and make half the amount of the corresponding ALK1 protein. As a consequence, the complex between TGF- 1 and BMP9 receptors, which requires Endoglin and ALK1, cannot form properly and is very unstable. This leads to an “uncoupling” of the eNOS machinery and production of more superoxide and less NO. Superoxide is a damaging agent that oxidizes proteins and lipids, interfering with their functions. This in turn may lead to initiation of

vascular lesions. Anti-oxidants are capable of blocking the effects of superoxide and can therefore be used in a disease model, when one suspects that superoxide is causing problems.

You may recall from previous meetings that my research team had previously engineered a mouse expressing a single copy of the Endoglin gene, called the Eng+/- or heterozygous mouse, which is a model for studies of HHT1. Similarly, Dr Paul Oh engineered a mouse with only one functional copy of the ALKI gene, referred to as the Alk1+/- or heterozygous mouse, a model for HHT2. Recently, we have investigated the lung vasculature of the heterozygous mice to see whether any abnormalities could be detected and whether superoxide was implicated. We also tested if treatment with an anti-oxidant, named Tempol, could prevent the onset of disease manifestations in the heterozygous mice.

What we saw was quite surprising. We used several imaging techniques adapted for mice, including X-ray micro CT. This technique requires perfusion of the lung vessels with an opaque substance (MicrofilTM), which flows from the arterial to the venous side, through the capillary bed and allows vessel imaging. Therefore, one can detect potential abnormalities in the vascular tree. The images were comparable for 3 week-old heterozygous and control mice, showing full perfusion from arterial to venous side and a normal capillary bed. However, in 8 week-old (adult) heterozygous mice, the central arteries were dilated, the peripheral arterioles were much less abundant and thicker and the venous side was often not perfused. This suggested increased vascular resistance, characteristic of pulmonary arterial hypertension. We measured the right ventricular systolic pressure (a way to assess pulmonary arterial pressure) and found that it was significantly elevated in the adult Eng+/- mice relative to the control mice. We also looked at lung sections from the mice and confirmed a reduction in the number of small peripheral arterioles and those had thicker walls, again suggesting increased resistance to flow. Heart remodeling, which occurs subsequent to a rise in pulmonary vascular resistance, was also observed in older

heterozygous mice. Since the lung vasculature was normal at

3 weeks but abnormal from 8 weeks of age, we treated the mice with the anti-oxidant Tempol in their drinking water, starting at 3 weeks and for a period of six weeks. At 9 weeks, we examined the lung vasculature of the mice and tested all parameters described above. Our preliminary results suggest that the anti-oxidant has a beneficial effect and is able to prevent the rise in pressure and the lung remodeling observed in the untreated heterozygous mice.

The observation that anti-oxidant may prevent the changes seen in the lung vessels of the mouse models of disease implies that superoxide might be involved. We are, therefore, measuring the levels of superoxide in lungs and plasma of the mice and expect higher superoxide in the untreated Eng+/- and Alk1+/- mice and return to normal levels in the treated mice. We also want to know if the superoxide is produced exclusively by eNOS or if other enzymes are implicated. Our collaborators are pushing the resolution of the X-ray micro CT and we hope to use this technique to screen the vasculature in different mouse organs and monitor the effects of various treatments on blood vessel remodeling.

Our future work is to test if the treatment of adult mice with Tempol will in fact reverse the pathological changes observed in the lung vessels of adult Eng+/- and Alk1+/- mice. Anti-oxidants, such as Tempol, may represent a novel therapeutic model for HHT patients. “We are very grateful to the HHT Foundation International for awarding us this grant and thank all of you for your kind donations. Our daily efforts are devoted to understanding the underlying mechanisms of HHT through basic research. We could not do it without your generous financial and moral support.”

RESEARCH UPDATE

Inspiring Advances in HHT Research

Dr. Michelle Letarte, Dr Guoxiong Xu, Allison Gregory and Dr Mirjana Jerkic

Most, if not all, human diseases have one or more genetic factors that contribute to cause, likelihood of occur-rence, severity, and response

to existing or experimental treatments. There is a general perception that the ability to define a person’s genetic makeup will lead to better health, improved treatments, and a better understanding of risks to other family members. However, many genetic technolo-gies increase uncertainty and confusion in the minds of patients, relatives, doctors, health insurers and others.

The Penn CIGHT aims to define these issues better and offer suggestions for reducing the

problems of uncertainty. The overall goal of the Penn CIGHT is to develop tools that will help consumers, professionals, policy makers and insurers understand and cope with the scope of certainty and uncertainty that genetic technologies engender. The work of the center is conducted by teams of experts representing a broad range of disciplines, such as medicine, bioethics, law, behavioral and social sciences, clinical research, public policy, economics, and genetic and genomic research.

As we mentioned in the Fall 2007 newslet-ter, Dr. Reed Pyeritz, Director of the HHT Center of Excellence at The University of Pennsylvania was awarded $5 million over five years from the National Institutes of Health to form the Center for Integration of Genetic and Healthcare Technologies (Penn CIGHT) and to study the certainty and uncertainty of results from genetic testing. Dr. Pyeritz’ team be col-

lecting and analyzing data for four research projects, one of which is specific to HHT:

Utilization & Impact of a New Diagnostic Test for HHT: an assessment from the perspec-tives of patients, providers and third party payers of the utility of a genetic test to identify the likelihood of future disease susceptibil-ity, using HHT, a single gene disorder, as an example, led by Barbara Bernhardt, Clinical Associate Professor of Medicine.

We wanted to take this opportunity to thank everyone that responded to our request to get involved in this critical research. This study will not find a cure for HHT but it will provide the statistical, disease impact data that we need to get Washington’s attention!

To learn more about the Penn CIGHT and the four research projects, go to http://www.med.upenn.edu/penncight/index.shtml.

RESEARCH UPDATE

Pierre Lasjaunias died from a massive myocardial infarc-tion on July 1st of this year. It occurred while he was attending an executive committee meeting of the world federation of neurora-diological societies in Zurich. His untimely death shocked the world of Neuroradiology as he had become one of the main driving forces in that specialty over the past few decades. His background had been a combination of neuro-anatomy and neuroradiology which made him imminently suitable for a career in interven-tional neuroradiology. He became one of the best teachers in his field and his dedication to teaching led him to organize annual courses in Europe and around the world that became the premier courses in interventional neuroradiol-ogy in the world.

His expertise included the most difficult aspects of his specialty, pediatric neurovascular diseases and spinal vascular malformations and his contributions in those fields were simply

outstanding, resulting in the French govern-ment’s designation of his Institution (Hopital Bicetre) as a national center of excellence in pediatric neurovascular disorders.

Pierre’s natural tendency to be a leader result-ed in his involvement with many professional organizations and he was the current President of the World Federation of Interventional and Therapeutic Neuroradiology and the Editor in Chief of the Journal Interventional Neuroradiology.

Pierre, for many decades, had a special inter-est in HHT and early on made observations that proved to be very important in the endovascular management of patients with that condition. He was proud to be associated with international organizations specifically focused on improving awareness and management of patients with HHT disorder. In this sense, he was an active member of the Global Research and Medical Advisory Board of the HHT Foundation.

While his death left a large void that has impacted patients and colleagues alike, we must be grateful to his contributions that he made to the understanding of neurovascular disorders in particular as they related to HHT.

Thank You For Answering Our Call to Get Involved in Research at The University of Pennsylvania

This summer, the HHT community lost a great supporter of HHT research and patient care. Dr. Pierre Lasjaunias was an active member of the HHT Global Research and Medical Advisory Board (GRMAB), a progressive leader in the diagnosis, treatment, and management of cranial AVMs in HHT patients, and a world renowned Interventional Neuroradiologist. In addition, Dr. Lasjaunais was a recur-ring speaker at HHT Patient and Family Conferences, a key contributor to the Consensus Guidelines Conference, and a true friend of the HHT Foundation International. Our condolences to Dr. Lasjaunais’ friends and family.

— Written by Marianne S. Clancy, Executive DirectorWritten by Karel G. terBrugge, MD

Dear Colleagues,

I was deeply shocked and saddened to learn of Pierre’s death. This sad occasion serves to remind us of how much Pierre has contributed to HHT in general and to the Global Research and Medical Advisory Board (GRMAB) in particu-lar. I was fortunate enough to meet him during the last meeting in Capri, Italy and I will always remember his excellent presentation on cerebro medulary lesions in HHT. Pierre’s scientific and medical contributions are recognized worldwide and his death represents a great loss for the HHT community. On behalf of GRMAB, I would like to extend con-dolences to Pierre’s family. He will be greatly missed.

Sincerely,

Carmelo Bernabeu, Ph.D.GRMAB Chair




HHT and INTERFERON STUDY

This clinical research study is funded by the HHT Foundation International and the Food & Drug Administration (FDA) Office of Orphan Products Development. This study will determine whether Interferon reduces the affects of AVM in various organs. The Mayo HHT Center is actively recruiting/enrolling HHT patients who are between the ages of 18-70 and:

Are transfusion dependent; orHave liver involvement with HHT and heart failure; orHave diffuse lung involvement with low oxygen levels.

HHT and JUVENILE POLYPOSIS

Doug Marchuk, PhDScientist, Molecular GeneticsDuke University, Durham, NC

Dr. Doug Marchuk has an ongoing laboratory research study comparing HHT and Juvenile Polyposis. If you are interested in taking part in this study or just want to learn more about it, please contact:

Tracey Leedom, MS, CGCCertified Genetic CounselorDuke UniversityEmail: [email protected]: (919) 668-5335

CURRENT HHT RESEARCH STUDIES

8th HHT International Scientific Conference

Every two years the HHT scientific community gathers for an internation-al conference. This confer-ence has grown from 40 scientists and clinicians in 1996 to over 150 partici-pants in 2007. The 2009 Organizing Committee has developed a program that will include a wide variety of topics with speakers and sessions devoted to the most recent medical advances in HHT basic science, clinical research, and therapeutics. The Organizing Committee is dedicated to attracting clinicians, researchers, and representatives of patient associations from around the world in order to advance HHT and enhance the lives of HHT patients.

A website, www.hht2009.com, has been established to facilitate registrations, hotel reservations, and abstract sub-missions. In addition, the website provides general informa-tion about the city of Santander, the venue, and activities for friends/family not attending the conference. This site is updated on a regular basis with the latest news concerning the program and general details about the conference.

The 8th HHT International Scientific Conference is spon-sored in part by the Grace Nolan Foundation and the HHT Foundation International. If you have any questions, you can contact Dr. Roberto Zarrabeitia by email at [email protected] , by telephone at 34-942847400 (8053), or by fax at 34-942847501.

We look forward to seeing you in Spain this coming May!

Organizing Committee: Carlmelo Bernabeu, PhD (Scientific Chair); Roberto Zarrabeitia, MD (Conference Host); Marie Faughnan, MD, MSc.; Urban Geisthoff, MD; Paul Oh, PhD; Carlo Sabba, MD; James Gossage, MD; Marianne Clancy, Executive Director, HHT Foundation International

YOU can help advance HHT Research

Save the Date

There are several HHT related research studies currently taking place. You or a family member may be interested in furthering the advancement of HHT research by participating in one of these clinical research studies. You can contact the primary researcher directly, call the HHT Foundation office at 800-448-6389, or visit the HHT website at www.hht.org.

THALIDOMIDE STUDY

Thalidomide and gastrointestinal bleeding: A research study is recruiting HHT patients who have gastrointestinal bleeding and require blood transfusions. This study will determine whether thalidomide reduces the need for blood transfusions. This is a controlled study of oral Thalidomide in patients with gastrointestinal bleeding due to telangiectasias in the stomach and small intestines, many of whom will have HHT. The patients will be monitored by physical exam and blood tests. Patients will be on Thalidomide for 24 weeks (six months). We will continue to monitor patients for 24 weeks after they stop taking Thalidomide.

Eligible patients MUST:have received at least 4 units of blood transfusion in the past two years and be able to travel to one of the two study sites once a month for monitoring

(1) Medical College of Georgia or (2) Northport VA in Long Island, NY (Sometimes the VA will make travel arrangements for patients to be sent to another VA for treatment)

For more information: http://clinicaltrials.gov/ct2/show/NCT00389935?term=HHT&rank=25

VARIOUS CLINICAL TRIALS

You can check ongoing HHT clinical trials through the website www.clinicaltrials.gov. You must spell out Hereditary Hemorrhagic Telangiectasia in the search box. This website will not acknowledge the abbreviation HHT.

Jim Gossage, MDDirector, HHT Center of ExcellenceMedical College of Georgia(706) 721-6791Email: [email protected]

Atul Kumar, MDAssistant Professor of MedicineStony Brook University(631) 261-4400 x5765Email: [email protected]

Karen Swanson, DODirector, HHT Center Mayo Clinic College of

Medicine(507) 266-0416

Jim Gossage, MDDirector, HHT Center Medical College of Georgia(706) 721-6791

I have HHT. It is extreme, and sooner rather than later, it will claim my life. If I can write an open letter telling of my experience and perhaps urging you to tenaciously seek early treatment of possible symptoms, then my time here will have been worthwhile. Perhaps, during your lifetime, prevention/cure for HHT will be developed.

But, to participate in making that cure happen, I believe you first must listen to my story:

I am 64 years old. I suffered from nosebleeds and arrhythmia in my 20s. I thought it was stress brought on by college and then by working and raising a family. Then, about 8 years ago, I developed a noticeable heart murmur. Cardiology begins! Coronary symptoms escalated over the next 5 years. Irregular heart rhythm caused shortness of breath (catheter ablation was done unsuccessfully). Then cardiac catheterization followed. The specialist said there was a hole in my heart and could be easily fixed. A solution! Then, he called and said “no hole”, but an anomalous pulmonary vein…a birth defect! But no; the next diagnosis was leaking mitral and tricuspid valves. But I was denied surgery to fix them. My cardiologist said my symptoms didn’t “line up.” All this time my heart function was deteriorating, and the right side was being overworked and enlarging. Three years ago, I was sent to a heart transplant clinic as a candidate. I was scared. This was BIG surgery. The punch line was, “You are not a transplant candidate, because you have HHT!” In that moment, all of the symptoms I’d experienced over the years came into focus!

During the next three years, I had a serious intestinal surgery, and bled abnormally, producing a life threatening situation. I returned to the hospital to receive a very large transfusion. (I have had 3 more since then.) I was also admitted to the hospital when I turned blue from excessive fluid in my lungs. I began to suffer from malnutrition because my liver was enlarged and not giving my stomach enough room to hold much food. Enlarged heart, small stomach, enlarged liver, profuse nosebleeds, fatigue…who is this person? It couldn’t be the robust

woman who walked 3-4 miles a day and was just learning horseback riding. I came to the realization I was, at the very least, hobbled by HHT. And it would be lifelong. This was mind-numbing.

What I have written is not a litany of woes. It is to let you know the long path the HHT afflicted might travel.

Currently, I receive iron infusions every week, significant injections of Procrit® weekly, heart medications, a high dose of diuretics and treatment for nosebleeds every 2-3 months. My liver is damaged and does not retain iron so the infusions will be ongoing. The liver AVMs cannot be treated, and transplant is not an option. My heart has been severely damaged because not enough was known to treat my HHT. Yet, I am called a phenomenon by my doctors, because my spirits are always high, and with treatment, I am able to maintain an unexpected

level of energy. But there are discouraging days too. What will happen when the symptoms overcome the known treatment?

Please remember HHT is genetic, and never skips a generation. Many, still unaware, will be touched by it. Many unborn children will have it. Research is the only way we can break through to the other side, so no one must ever again live under the cloud of a condition of unknown progression, forced to play the roulette of symptom management.

I am honored to write a letter that may promote the further research and development of a viable cure for HHT.

I am supported by the love and strength of my family. They are the best. One of my sons will be running for HHT in the Long Beach Marathon, to show his support of me and others with HHT. I know you are not all runners, but you CAN help by contributing even $10 to help us reach our goal of 3K.

Sincerely, and with great hopes for the future,

Advocacy, Education, Fundraising: The Power of the Written WordBy Arline Williams, HHT Foundation Member

Bless you Arline, for sharing your story, encouraging others, and realizing that the only way to battle the progression of this disorder is to better understand HHT through continued research.

We encourage more members to write letters like this to their family members to encourage screening and prevent death or disability. We encourage members to write letters like this to their Congressmen so that HHT can receive the federal funding it rightly deserves. And, we encourage members to write letters like this to their friends and community leaders in an effort to raise awareness of HHT, increase identification of the disease, and hopefully, raise money to continue the work of the HHT Foundation.

If you have a story to share that can benefit others who are struggling to convince family members about the impact of this disorder, please contact the HHT Foundation at [email protected]. We can possibly share your story in the newsletter or on the website.


The Mission of the HHT Foundation is to educate, advocate, and support families affected by HHT while funding research and engaging the medical and scientific community. This is a large task and we cannot do it alone! In fact, the message is far more powerful, especially when presented to Congress, when it comes from those who live with this disorder on a daily basis.

Arline Williams, an HHT Foundation member, saw the Long Beach Marathon fundraiser as an opportunity to educate her family, friends, and community while raising money for the Foundation. Ms. Williams spoke to her local newspaper and had an article published about HHT. She also reached out to those who know her by writing an honest and powerful letter about how this disorder has affected her life.


The HHT Foundation has a plan! A plan that will move forward regardless of the economy. A plan that will strengthen HHT awareness to the healthcare community so that you (and your family members) are diagnosed and treated properly. A plan to increase the number of centers so that multi-disciplined teams treating this multi-organ disorder are closer to the seriously impacted members as needed.

This plan isn’t in the future. This plan includes the CDC conference, the CME accredited Physician’s Conference in Chicago, and the new HHT Treatment Centers opening this coming year. This plan is NOW!

We have heard it said that the cure for HHT will come from a collaborative partnership between the basic research scientists and the clinicians, but it starts with you! The members drive this organization. YOU, the members of the HHT Foundation, will bring about the funding to find the cure, you the members keep the doors open and the lights on…..and YOU are the only thing that can stop the HHT Foundation from moving forward! Please renew your membership, make a donation, call us to volunteer. We are counting on you. Your children are counting on your commitment.

My name is Mary Leigh Krock. I am your Membership Coordinator. I am here to support you. I look forward to hearing from you in the coming year.

From the Membership Desk…

The Grand Rapids Press, Michigan“Genetic disorder HHT still a mystery”Written by Paul R. Kopenkoskey Tuesday October 14, 2008 www.mlive.com/grpress/lifestyles/index.ssf/2008/10/genetic_disorder_hht_still_a_m.html

Colfax Record, California“Meadow Vista woman raises awareness of silent killer” Written by Gloria Beverage October 8, 2008

The Indianapolis Star, Indiana“Teen lives a story of perseverance —Stroke victim coming home after 3-month recovery”Written by Cindy MarshallPosted: September 3, 2008

Times Colonist, Michigan“The nosebleed disease”Chris Zdeb, Canwest News ServicePublished: Thursday, July 24, 2008www.canada.com/victoriatimescolonist/story.html?id=cf68ba6f-3146-439d-9501-f5a1edd31523

The New York Times Health Guide, New York“Osler-Weber-Rendu Syndrome”April 10, 2008health.nytimes.com/health/guides/disease/osler-weber-rendu-syndrome/overview.html

Nine out of ten people in the HHT population are not yet diagnosed due to widespread lack of knowledge by both medical professionals and the general public as a whole. It is so important to reach the pub-lic with information about HHT in order to reach the 90% of the HHT population who are currently at risk.

One of the best ways to reach the masses with information about HHT is through the press and media. By reaching the masses, individuals that haven’t heard about HHT gain information that can lead to an

accurate diagnosis and access to available treatments that could mean the difference between needless disability or premature death and liv-ing a healthy, productive life.

The HHT Foundation is extremely grateful to all of the individuals responsible for building public awareness of this disorder.

To view recent articles in the media about HHT, type the URL addresses listed below into your web browser.

The HHT Foundation International is the ONLY organization advocating for research, education and legislation.

While your moment of crisis may have passed, do you want to STAY INFORMED of the latest research, treatments, educational opportunities & regional support?

If you have HHT, if you care for someone with HHT, if you want a CURE for HHT, please renew your membership annually. We need your continued support today to improve your quality of life tomorrow! Please renew online at www.hht.org or mail the membership form in this newsletter.

Renew today

online at

www.hht.org

August 2, 2008 Second Annual Fighting for the Cure Dinner Dance Clayton and Jodie NissanMichigan

August 8, 2008Lemonade Stand Fundraiser Emma Purdy Michigan

September 6, 2008Third Dinner Dance Fundraiser for HHTChris Licata and Jennifer BlevinsNew Jersey

October 11, 2008

Baltimore MarathonHHT Foundation OfficeMaryland

October 12, 2008Second Annual Long Beach MarathonOrganized by Debra DrysdaleCalifornia

February 2009 (Current Event)Mt. Kilimanjaro - Climb for Awareness Scott OlitskyKansas

We thank these valued members of the Foundation. They have taken us half-way up the thermometer in meeting our goal. If we are to reach our goal, we need more individuals, like yourself, to get involved with fundraising.

Clayton and Jody Nissan had so much fun and success with their first Dinner Dance Benefit for HHT in August of 2007 that they decided to do it again!

Clay has been treated by Dr. Swanson at the Mayo Clinic HHT Center of Excellence since he was first diagnosed. Clay and Jodie took all three of their children to the Mayo Clinic in November of 2006 and the oldest was diagnosed with HHT. Jodie explains, “This was very devastating for us, and especially Clay. Holding the fundraising events is a great way for us to feel like we can raise money to hopefully find a cure and prevent another tragedy in our family as well as other families with HHT.”

This year the Nissans had more volunteers to help in the planning of their fundraising event. Clay and Jody wanted to raise more money than the previous year. In August 2008, the guests of the Nissan Dinner Dance enjoyed wonderful food, beautiful raffle items, and plenty of music and dancing. With just over 110 contributions made, they were able to increase their donations to the HHT Foundation by 38%. The HHT Foundation is so honored and thankful for the Nissan’s generosity and willingness to reach out to their community of family and friends in an effort to raise awareness and money for HHT.

By Sharon Williams, Legislative Advocacy and RNA Manager

Michigan

We all know that these are difficult times. The HHT Foundation's membership and general donations are significantly decreased from last year. That’s why the grassroots fundraising events hosted by our members are more important than ever. The accomplishments that the HHT Foundation has achieved this year would not have been possible without your support in fundraising and giving!

The simple fact is that we need everyone’s help in raising funds in order to continue to be a responsive and results-oriented organization. The Foundation needs your help in funding to:

continue and expand research develop improved treatments educate physicians and patients expand outreach efforts and availability of careultimately find a cure

We are basically halfway into our fiscal year and I wanted to thank all of the individuals that have supported the HHT Foundation in this fundraising challenge by organizing a fundraising event or by contributing to someone else’s event.

If you are interested in learning more about fundraising for HHT, please visit the HHT website (www.hht.org) under HHT Foundation/Fundraising section. You can get numerous ideas there. You will see a listing of ongoing fundraising events, past events and lots of great ideas. Additionally, always feel free to call the HHT Foundation office at 800-448-6389.

0

$198,800Year Goal

Year to DateActual $96,000 48.3%

Fiscal Year July 1, 2008 to June 31, 2009

*(This goal does not include Membership, General Donations and Annual Appeal)


Emma Purdy, a 7 year old from Clyde Township in Michigan, set a goal to raise $1000 for HHT. Emma exceeded that goal by raising over $1,500 for the HHT Foundation and it all started fifty cents at a time with her lemonade stand on August 10, 2008.

Emma, her brother Elliot, and dad (Don Purdy), as well as many other family members, have HHT. Emma’s mother, Diana, said that Emma learned how expensive medical care can be. Emma’s goal was to raise money and increase awareness for this disorder that affects so many people in her family.

“It feels a little helpless,” said Diana Purdy. “There’s not a lot I can do for (the kids) except make sure they get everything they need done. Regular blood work, MRIs and CAT scans to look for AVMs are part of the routine”, she said. Diana said she believes the family has done a good job of informing others about HHT. “My entire workplace knows about it now; and their families know about it,” Diana said.

On August 10, 2008 Emma began raising money and awareness for HHT by selling

lemonade in her community. Thanks to generous neighbors, the lemonade stand raised $88. Emma was determined to reach her goal of $1000 so on August 23rd she added hot dogs to her menu and set up another lemonade stand at the neighborhood garage sale. Emma still hadn’t reached her goal. Determined to raise $1,000 for HHT, Emma laminated the article that the Times Herald wrote about her lemonade stand called “Girl

battles illness — Lemonade stand proceeds to fight genetic disease”. She placed a box of candy bars in the lunchroom of a large company with a for sale sign to benefit HHT and the article propped up next to the candy bars. That did it! She raised her $1000. A company called Thrivent Financial was so impressed by Emma’s effort that they matched Emma’s earnings by donating .50 cent on the dollar to the HHT Foundation.

“I think I really want to raise more money for the HHT,” Emma said. The next event the Purdy family is planning is a bowling fundraiser in February 2009.

The HHT Foundation is extremely appreciative of the Purdy family’s efforts. In particular, we are thankful for Emma’s understanding of how important it is to raise awareness and money for HHT and her willingness to do something about it. Emma realized that she can do whatever she sets her mind to do and SHE IS MAKING A DIFFERENCE in the lives of those affected by this disorder…she is also quite a resourceful, enterprising young lady. Congratulations Emma!

Chris Licata, and his wife, Jennifer Blevins hosted their annual Glen Ridge benefit for HHT at their home on September 6, 2008 to raise awareness of HHT. They had set up a tent in their backyard, but heavy rains that night turned their yard into a “mud wrestling pit" Chris said. The mud, however, didn’t hold the partygoers back from having a wonderful time. They simply pulled off their shoes and danced barefoot in the mud to Billy Joel tunes played by a seven piece band.

Although it was a fundraising event filled with fun, music, friends and neighbors, there was also a somber note to the function. Last year, Jennifer Blevins’ brother, Jeffrey Blevins, died as a result of throat cancer and perhaps the effects of damage caused by many years of suffering from HHT. Jeffrey was 50 when he died and this event was held in his memory.

At the end of the evening, it was an incredibly successful fundraiser despite the rain.

Chris said he was just amazed with the outpouring of donations. “It’s truly a testament to the generosity of our friends, because they are the only people we invited,” said Chris.

For many years, the Blevins’ family has been a very active and valued member family of the HHT Foundation. Chris states that the biggest problem with HHT is it obscurity, “It’s more prevalent than Lou Gehrig’s disease, but it doesn’t have the brand recognition.” Thankfully, Chris and Jennifer are committed to planning additional fundraisers. Their dedication will impact the advancement of HHT.

The second weekend in October was a very productive weekend for the HHT Foundation in terms of raising awareness and funds for HHT. We had over 48 participants wearing bright green HHT T-shirts who either ran, walked, or biked in the Baltimore or Long Beach Marathon. Four different newspapers published articles about HHT’s participation in the marathons. These papers included the primary newspaper in Baltimore, The Baltimore Sun and a smaller local Maryland paper, the North County Times, and two local California papers, the Colfax Record and Downtown Gazette. Twenty-five HHT members set up fundraising pages and asked their friends, families and associates to support the HHT Foundation on their behalf. As a result, the HHT Foundation had over 340 individual donations come in totaling over $27,000.

The HHT Foundation wants to sincerely thank everyone that participated in this endeavor — the individuals that set up fundraising pages, the participants in the races, the volunteers, and the individuals that generously gave donations.

Dinner Dance Benefit in Memory of Jeffrey Blevins HHT Race for Awareness

Emma Purdy’s Lemonade Stand


New Jersey California

Maryland

Debra and Don Drysdale hosted HHT as a participating charity in the Long Beach Marathon on October 11 and 12, 2008 for the second consecutive year.

Festivities began on October 11 with a carb dinner at the home of Deb and Don. Fundraising participants enjoyed a variety of delicious pasta entrees while getting acquainted and discussing their participation as bike riders, runners and walkers. Each guest shared their medical experiences and their personal link to HHT. Debbie educated the group on the progress of the Foundation as well as an update on the Patient and Physician conference in Chicago this past September. Guests were primarily local with three participants driving 7 hours to participate in the weekend events.

Runners, walkers and riders met in Long Beach as early as 5:30 AM, all wearing their bright green HHT shirts to spread the word. “A sense of unity and bonding developed as we travelled the course as a group with a cause”, stated Deb. In total, the Long Beach Marathon raised over $13,500 dollars and spread a worthy message to the community.

Denise was diagnosed with HHT just two years ago after having a stroke. She was in the hospital for 2 1/2 weeks after that event. That is one of the reasons Denise decided to participate in the HHT Race for Awareness in the Baltimore Marathon. “We need to diagnosis people with HHT before tragic events occur, not after the fact.” I was fortunate to not have any permanent disabilities associated with my stroke — many are not so lucky.” exclaims Denise.

Thanks to an ambitious young intern at University Hospitals of Cleveland, the wonderful people at the HHT Foundation, and the amazing doctors and staff at the HHT Center of Excellence at Yale University School of Medicine, Denise is in a fantastic position to work through future health concerns.

Denise Sherman created her HHT fundraising page for the Baltimore Marathon on July 8th, 2008 and emailed it out to everyone she knew. She was overwhelmed by the generosity of her friends, family, and associates. The donations started coming in ranging anywhere from $10 to $500. Denise received 68 donations which made her the Top Fundraiser for the HHT East/West Coast Marathon Challenge.

Congratulations and Thank You Denise!

October 12, 2008

Long Beach Marathon Participants

Long Beach Start Line

Denise Sherman and Paul Claridy after they finished the 5K at the Baltimore Marathon

Fundraising Pages and Participants in Race

Corie Bowden- Bike RideNick Bowden- 5 KDarrick Woo- Bike RideLarry Stahl- 5 KErica Bishop- 5KDenise Ortiz- Bike RideRoselle Virtucio- Bike RideThe Gebert Family- 5KHannah Drysdale – 5KDon Drysdale – 5KDebbie Drysdale – 5K

Fundraising Pages

Jane SilkRick LustigJill WilterdinkMurray BrillantMichelle Drysdale

Participants in Race

Dave AlesioWes Bishop


We wish to thank all the following individuals that supported the HHT Foundation in a variety of different ways during the HHT Race for Awareness at the Long Beach Marathon.


The main activities all occurred in downtown Baltimore between the Raven’s M&T Stadium and Oriole Park at Camden Yards. At the crack of dawn on Saturday, October 11th, the streets were already flooded with runners and spectators. It was an absolutely gorgeous day with clear blue sky, plenty of sunshine, and a comfortable 75°F. As you walked into the main court, Celebration Village, there were several white tents one of which had a large sign that read “HHT Foundation.” Immediately outside the tent, you could not miss all the bright green HHT T-shirts being worn by 34 participants that were running or walking in either the 5K, team relay, half marathon or full marathon.

This was the first year that the HHT Foundation participated as an official charity in the Baltimore Marathon. Of the 34 participants, well over 50% had never participated in a Marathon event before. Our entire staff participated along with many local HHT families and friends. One of our fundraisers, Denise Sherman and her friend Paul Claridy, traveled from as far as North Olmsted, Ohio to be a participant in the race.

We were able to raise over $14,000 for the HHT Foundation with

the help of individuals that set up fundraising pages or personally donated. There were many individuals that set up fundraising pages in order to raise money for the Foundation without participating in the race. One member of our HHT Board of Directors, Diana Meiches, was very creative. Diana set up a fundraising page for HHT, sent it out to

October 11, 2008

Baltimore Marathon participants

Outside HHT Foundation tent John and Melissa Meighan from Odenton, Maryland

her friends, family, and associates, and raised money for HHT while participating in a “virtual marathon.” She walked and ran the 5K on her treadmill while enjoying the comfort of her home in Massachusetts. It was “a virtual 5K experience” but the funds she raised for HHT were quite real.

This event was an incredibly rewarding experience for everyone who participated. Individual accomplishments were achieved; awareness about HHT was raised through several local press articles, friends, colleagues, and high school coaches; valuable funds were earned for the Foundation; and we all got to know each other better through the race festivities.

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Fundraising Pages and Participants in Race

Denise Sherman – 5KJohn and Melissa Meighan -5KMarianne and Allyson Clancy – 5KMary Leigh Krock – 5KSharon and Jonathan Williams 5-KNicole Schaefer - 5K

Fundraising Pages

Jackie Copeland and TeamJohn McMahonDiana MeichesBob BerkmanStacey Griffin

The Finish Line Cookout CelebrationMarathonBrian King Steve BradleyBonnie Bradley

Half MarathonHarry BoskPat KopinsTim MooneyJohn GaughanStacey SuggsDana Bourland

Team RelaySally ByrneKaren DubsGady FishpawKaren Dubs

5KDana BoskSharon FaticaAngela Purcell-PattiJonathan PurcellKathy McAllisterBrody McAllisterLeslie OkunDonna HennessyMary VaccarinoLacey LivingstonRoseanna GibbonsWendy Pace

VolunteersSara Palmer – Public RelationsTammy Livingston – The Finish Line Cookout Celebration

Participants in Race


We wish to thank all the following individuals that supported the HHT Foundation in a variety of difference ways during the HHT Race for Awareness at the Baltimore Marathon.

Mt. Kilimanjaro, in northeastern Tanzania, reaches 19,340 feet and is one of the seven summits; the highest peak on each of the seven continents. You would not expect to find someone with Hereditary Hemorrhagic Telangiectasia (HHT) standing on the summit but that is exactly where Scott plans to be on February 26, 2009.

On February 19, 2009, Scott will set out on a nine day route to the top of Mt. Kilimanjaro with two of his good friends. On the last night, he will sleep at 18,000 feet where the tempera-ture is likely to be below zero.

Why is Scott climbing Mt. Kilimanjaro? Scott is part of a family of five generations

of HHT patients, including his three chil-dren. Scott’s hope is that his climb up Mt. Kilimanjaro will help to increase the awareness of HHT. Currently, 9 out of 10 of the HHT population (68,000 US citizens) are not yet diagnosed due to widespread lack of knowl-edge by medical professionals and, therefore, are at risk of stroke, hemorrhage, and death.

Given Scott’s history of anemia and the pres-ence of a pulmonary AVM, he debated wheth-

er or not to attempt this climb. “It seemed worth a try,” says Scott. “The HHT Foundation and the doctors interested in this disease have done great things for people with HHT, including most of the people in my immediate family. Studies that have been performed have taught us a great deal about the natural course of the disease as well as treatment options for it,” Scott further commented.

Scott admits, “Being involved in a public fundraiser is something that is not very com-fortable for me and I imagine that is true for many people with HHT.” However, Scott wants to do what he can to help raise money for the HHT Foundation so we can continue to help people with HHT. He is hoping that his climb up Kilimanjaro will also increase awareness of the disease as well as highlight the medical community’s ability to treat many of the problems associated with it which will, ultimately, allow HHT patients to live better lives. “My climb will hopefully highlight the good news. HHT tragedies can be prevented through early diagnosis and treatment,” Scott exclaims.

Scott’s GoalScott’s goal is to earn $19,340 for the HHT

Foundation – one dollar for every foot he climbs to the summit of Mt. Kilimanjaro. As Scott’s climbs on his Stair Climber with 50 pound pack on his back, his donations for HHT keep climbing as well. Currently, HHT has received just over $13,340 in donations. Four HHT members are helping Scott raise funds by setting up their own fundraising pages and over 78 separate donations have been made.

Scott's comments “Currently, I wake up at 5am and work out 6

days a week to prepare for Kili. My workouts usually include running 3-4 miles or using the Stairmaster, usually with my 50 lb back-pack.”

“Some days are tougher than others to get up and going. I figure that if I do not get my workout in that day, I may have decreased my chance to make it to the top.”

“The cold, dry air really wreaks havoc with nosebleeds this time of year. Some days, my nose may bleed for the duration of my run.”

If Scott can go through all of this preparation and work for this climb, please find it in your heart to support him and all people with HHT.

February 19-26, 2009

Scott Olitsky (right) and his friend, David Coats, both pediatric ophthalmologists, stand just below the summit of Mt Whitney at about 13,000 feet.

By Sharon Williams, Legislative Advocacy and RNA Manager

0

$19,340Goal

Actual $13,340 69%

As of January 6, 2009


How can you support Scott and the HHT Foundation?

1. Make a tax deductible donation online Type the following address into your web-

browser: www.active.com/donate/ClimbforHHT

You will see Scott’s Climb for HHT.

2. Fundraising PageYou can make an online donation with a credit card securely and easily. You will receive an

email confirmation of your donation and Scott will be notified as soon as you make your donation.

3. Make a donation by mailing a check You can write a check to the HHT

Foundation or make a credit card donation and make a note that it is to support Scott Olitsky’s Climb for HHT and mail/fax it to our office at:

HHT FoundationP.O. Box 329Monkton, Maryland 21111 Fax: 410-357-0655

Set up Your Own Fundraising Page to support Scott and HHT

You do not have to climb Mt. Kilimanjaro in order to help raise money for the HHT Foundation in support of Scott’s Climb. You can simply set up your own online fundrais-ing page and send it to your family, friends and associates. It’s simple, only takes about 20 minutes, and doesn’t cost you anything. If you are interested in setting up your own page, type the following address into your web browser:

www.active.com/donate/ClimbforHHT and click on: “Individuals: Click Here to build your personal fundraising page” under the second box in the right margin.

Your support and generosity is so appreci-ated by Scott’s family, all of those with HHT and their families, and the HHT Foundation.

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The HHT Fundraising Committee wants to help you. For ideas and "how to" templates of successful events, contact Sharon Williams at 800-448-6389 or email her at [email protected].


Do you feel like HHT has been pushed to the side? While other health issues and diseases received the attention and money from our federal officials in Washington D.C., HHT has been ignored!

The HHT Foundation, the HHT Legislative Committee, the HHT Board of Directors, and a few key HHT members that have access to key political leaders, are all tripling their efforts in order to force Congress to pay attention to HHT and give us the same support provided to dozens of other health groups.

Objectives for next fiscal year - FY2010October 1, 2009 – September 2010

On October 1, 2008, Congress started FY2009 operating under a continuing resolution. This meant that a resolution was enacted to allow specific Executive Branch agencies to continue operating even though funds have not been appropriated for them for the following fiscal year. The HHT Foundation’s objectives going forward are:

Gain a House and/or Senate ResolutionObjective: To secure a resolution in the House and/or Senate that recognizes

(1) HHT as a long neglected national health care problem that affects appropriately 70,000 people in the United States, (2) the lack of knowledge of HHT by medical professionals and general public since 90% of the HHT population are not yet diagnosed and are at risk for death or disability due to sudden rupture of the blood vessels in major organs in the body, and (3) that adequate federal funding is needed for education, outreach and research to prevent death and disability, improve outcomes, reduce costs, and increase the quality of life for people living with HHT. Authorization

Objective: Launch major advocacy initiative to enact statutory language authorizing a federally funded national program to combat the health and financial consequences of HHT. Appropriations

Appropriation Process for FY2010 will begin in March of 2009 – Objective: To secure the inclusion of an HHT earmark in both the House and

Senate versions of the Labor/HHS appropriation bill.Executive

Objective: To create medical and scientific support for increases in HHT funding for surveillance, research and treatment within the scientific community in the various HHS health agencies. This objective will build on the results/conclusion of the HHT/CDC educational conference held in March of 2008.

In the very near future, the HHT Foundation will be asking for your help and the help of families and friends everywhere to write a letter, send an email, make a phone call, or possibly visit your Members of Congress. We have to get as many people standing up for HHT as possible in order to gain Washington’s attention and begin the process of funding for our cause.

Specific instructions will follow. Thank you for your anticipated support.

LEGISLATIVE UPDATE

HHT Legislative Initiative

HOUSE OF REPRESENTATIVESThe 2008 U.S. House of Representatives elections were held on November

4, 2008, to elect members to the United States House of Representatives to serve in the 111th United States Congress from January 3, 2009 until January 3, 2011. All 435 seats were up for election.

House of Representatives Results:Democratic 255 (added 22 seats) Republican 175 (lost 21 seats)Undecided 4Vacant 1

SENATE Elections for the United States Senate were held on November 4, 2008,

with 35 of the 100 seats in the Senate being contested.

Senate Results:Democratic 56 (+ 2 independent) ( added 7 seats)Republican 40 (lost 7 seats)

The HHT Foundation is able to accomplish major tasks (i.e., conferences, website, fundraising) with a small staff because of the invaluable number of volunteers who help us.

If you have experience in either of these areas or have other skills you would like to share with the foundation, please contact Sharon Williams at 800-448-6389 or [email protected].

WE CURRENTLY HAVE A NEED FOR INDIVIDUALS WITH EXPERIENCE IN (1) SOFTWARE PROGRAMMING AND (2) MEDIA & PRESS.

Legislative Election Results

Volunteers


Genetic Information Nondiscrimination Act of 2008

Late Breaking NewsOn December 22, 2009, Melissa Chandler, Legislative Director for

Representative Joe Wilson of the 2nd District in South Carolina, confirmed Representative Wilson's commitment to sponsor a House Resolution for HHT.

This is a great step forward for our legislative effort achieved at the end of 2008! Ms. Chandler stated the resolution will be drafted in January 2009 and introduced the beginning of February. The resolu-tion will state that the House of Representative recognizes HHT as a national health problem and designates May 2009 as the first HHT National Awareness Month.

After Representative Wilson introduces the resolution and a num-ber is assigned to it, his office will send a Dear Colleague Letter out to other House members to ask for their co-sponsorship. When this occurs, we will need all HHT Members, their families and their friends to email, fax, write, or all of the above asking them to add their name as a co-sponsor the resolution. This will probably be in the February timeframe and instructions and a sample letter will be sent out.

Capital Hill Day in 2009Washington D.C. is a beautiful and exciting place to visit in late

spring. It a great vacation spot and a great learning experience for kids of all ages.

The HHT Foundation, in conjunction with the HHT Board of Directors, and HHT Center Directors, hope you will be able to join us as we approach Capitol Hill as a unified force in May/June of 2009 for the Third HHT Capitol Hill Day. Typically, Capitol Hill Days are on Thursday so that would give you a long weekend to tour and enjoy our nation’s capital.

There will be training and instruction given to all attendees prior to their meeting with their respective Congressional Representatives and/or their staffers. In these brief meetings, individuals will share how HHT has impacted their life and that of their family and ask for their representative’s support in gaining federal funding for this long neglected disorder.

More information to follow in the near future.

Washington, DC — The President has signed into law the Genetic Information Nondiscrimination Act (GINA) that will protect Americans against discrimination based on their genetic information when it comes to health insurance and employment. The bill had passed the Senate unanimously and the House by a vote of 414 to 1.

Specifically, the legislation protects against genetic discrimination by health insurers or employers by:

Prohibiting group health plans and issuers offering coverage on the group or individual market from basing eligibility determinations or adjusting premiums or contributions on the basis of genetic information. They cannot request, require or purchase the results of genetic tests, or disclose genetic information.

Prohibiting issuers of Medigap policies from adjusting pricing or conditioning eligibility on the basis of genetic information. They cannot request, require or purchase the results of genetic tests, or disclose genetic information.

Prohibiting employers from firing, refusing to hire, or otherwise discriminating with respect to compensation, terms, conditions or privileges of employment. Employers may not request, require or purchase genetic information, and may not disclose genetic information. Similar provisions apply to employment agencies and labor organizations.

GINA, which has been debated in Congress for 13 years, will pave the way for people to take full advantage of the promise of personalized medicine without fear of discrimination.

LEGISLATIVE UPDATE

President George W. Bush signs H.R. 493, the Genetic Information Nondiscrimination Act of 2008, Wednesday, May 21, 2008, in the Oval Office.

White House photo by Eric Draper.


CALIFORNIA RNA ! NORTH CENTRALCo-Regional Coordinator: Angela BrownConcord, CAContact Information: [email protected](925) 998-0099

Co-Regional Coordinator: Denise Hitzeman Scotts Valley, California Contact Information: [email protected](408) 839-9503

CALIFORNIA RNA ! SOUTHERN Regional Coordinator: Deb DrysdaleNewport Beach, CaliforniaContact Information: [email protected](949) 854-0557

GEORGIA ! NORTHERN GA AND WESTERN SCRegional Coordinator: Bette Holzberg, M.D. Evans, GAContact Information: [email protected](706) 447-8501

ILLINOIS RNA ! CHICAGO AREACo-Regional Coordinator: Sandra LurieHighland Park, IllinoisContact Information: [email protected] (847) 831-2291

Co-Regional Coordinator: Reta Kunz-JankowskiLake in the Hills, IllinoisContact Information: [email protected](847) 659-1606

KANSAS RNARegional Coordinator: Scott OlitskyLeawood, KansasContact Information: [email protected](913) 897-6688

MARYLAND RNA ! MD, DE, DC AREARegional Coordinator: Sara PalmerBaltimore, MarylandContact Information: [email protected](410) 653-2245

MICHIGAN RNACo-Regional Coordinator: Carol GaertnerSaginaw, MichiganContact Information: [email protected](989) 752-3342 Co-Regional Coordinator: Jill Wilterdink Wyoming, MichiganContact Information: [email protected](616) 531-5671

NEW JERSEYRegional Coordinator: Abbe RosnerTeaneck, New JerseyContact Information: [email protected](201) 692-3696

OHIO RNARegional Coordinator: Denise ShermanNorth Olmsted, OhioContact Information: [email protected](440) 779-1650

PENNSYLVANIA RNA "PHILADELPHIA AREA#Co-Regional Coordinators: Allan and Gwen OlitskyLandsdale, PennsylvaniaContact Information: [email protected]@aol.com(215) 368-8636

RHODE ISLAND RNA! "RI, CT, AND MA#Regional Coordinator: Bob ResingerWest Warwick, Rhode IslandContact Information: [email protected](401) 615-5642

TENNESSEE RNARegional Coordinator: Cassie HamiltonNashville, TennesseeContact Information: [email protected](423) 710-3395

TEXAS RNARegional Coordinator: Bob ParsonsKerrville, TexasContact Information: [email protected](830) 257-3406

WESTERN CANADA SUPPORT GROUPRegional Coordinator: Delaine ElleEdmonton, AlbertaContact Information: [email protected](780) 475-1717

Directory of Regional Networking AlliancesLiving with a rare disorder can be isolating and frightening. Whether you are newly diagnosed with HHT or have been living with the disorder for years, you don’t have to face this illness alone.

The HHT Foundation has an ever-growing network of support groups called Regional Networking Alliances (RNA) operating across the United States and Canada. What is a Regional Networking Alliance (RNA)? A Regional Networking Alliance is an informal group of empowered and caring vol-unteers that work closely with the HHT Foundation to facilitate local connections for individuals and families affected by HHT. An RNA can provide a forum for individuals

to share their concerns and experiences so they no longer have to feel isolated. In an RNA, you can move from despair to hope by discovering the tools you need to cope on a day to day basis as well as have the opportunity to get involved in issues that affect your life. Join one of our existing Regional Networking Alliances: We currently have RNAs in the following areas. Please feel free to contact the Regional Coordinators in your area to learn more about the group. If you are interested in start-ing an RNA in your area, please contact Sharon Williams at 800-448-6389 or [email protected].


These cards were custom designed and donated by one of our valued HHT member families, Michael and Daryl Anisfeld. It was the Anisfeld’s hope that these tribute cards would give people an opportunity to recognize special occasions of loved ones in a very meaningful way while at the same time increasing awareness about HHT and raising funds to further HHT research, educate families and physicians, and advocate for and support those with HHT.

The holidays and personal celebrations are a perfect time to reach out to your friends and family by sending them a tribute card that acknowledges that a contribution was made to the HHT Foundation in recognition of the occasion. These cards are specifically designed to be used for any occasion. No matter what the occasion, show you care by sending a HHT Tribute Card.

Please support the HHT Foundation by purchasing these tribute cards.

You can either order the card online at www.hht.org or mail a check to the HHT Foundation (P.O. Box 329, Monkton, Maryland 21111) specifying the number of packs of HHT Tribute Greeting Cards you

want to purchase. If you have any questions please call our office at 800-448-6389.

Calling All Artists . . .Young and Old

Guidelines for Morethancards.com Art Contest

The HHT Foundation will be designing its own special occasion greeting cards to be purchased online at www.morethancards.com in 2009. Therefore, we need artwork for all occasions — birthdays, Get Well Soon, Thank You, sympathy, Christmas, Hanukkah, etc. We need art from children and adults. The more variety, the more cards people will have to choose from. This is not only an opportunity to raise money for HHT but also to raise awareness about this disorder since individuals who do not have HHT will visit the site.

All artwork should be in color and forwarded to the HHT Foundation no later than February 28, 2009. What a great project for the whole family! If you have any questions, please call the Foundation Office at 800-448-6389 (US/Canada) or 410-357-9932 (International). Your artwork should be mailed to: Mary Leigh Krock, HHT Foundation International, Inc., P.O. Box 329, Monkton, MD 21111 or emailed to [email protected].

ALL artist submissions are welcome—professionals, amateurs, adults, teens, and children (with or without HHT). We would simply like to know of your HHT connection for potential use in the card’s artist information. Physical artwork submitted will be scanned to a high resolution file if the size is less than 11” x 17.” Alternatively, a high resolution image of a larger piece of art can be accepted via CD or email attachment. Please email us at [email protected] before sending a hi-res image file (must be 300 dpi or better, recommended size 1670 x 2325, tiff format).Artwork specifications:

Cards are approximately 6” x 8”, so multiples of these increments work best without cropping (6” x 8”, 9” x 12”, 12” x 16”). Flatbed “scanable” size is preferred. Use colorful paints or pastels instead of crayon and markers, which do not reproduce well. No pencil or colored pencil. These do not show up as professionally as we would like.

Use sturdy art paper rather than plain white paper. Avoid black backgrounds. Avoid use of sparkles or glitter, which may not scan well. Do not reference “HHT”; these are holiday-themed or all-occasion notecards. Reference to HHT will be in the form of the JDRF logo and artist information on the back of the card. Strive for designs/themes which will be of wide interest to card purchasers, not just parents/grandparents of the artist. (Remember, we are aiming for broad-based awareness and fundraising for a wide variety of supporters.) Religious artwork is acceptable (Christmas, Hanukkah, etc.).

Note: Artwork is typically NOT returned and becomes the property of MoreThanCards/HHT for its use, but specific arrangements may be made for professional artwork, etc. Please email [email protected] or call 1-866-MTC-CURE (1-866-682-2873).


Our sincere and heartfelt thanks go out to everyone who has contributed to the HHT Foundation whether through research endowment, membership, general, or tribute donations.

Below we list donors who have contributed since the publication of our last newsletter through December 18, 2008.

FOUNDER $100,000+

GOLD BENEFACTOR $50,000 - $99,999

SILVER BENEFACTOR $25,000 - $49,999

BRONZE BENEFACTOR $10,000 - $24,999

GRAND BENEFACTOR $5,000 - $9,999

PRESIDENT’S CLUB $1,000 - $4,999

BENEFACTOR $500 - $999

PATRON $250 - $499

Charles and Oranee AbbottIn loving memory of Patricia Abbott Rasmussen, Stephen Abbot and Rachel Abbott

Terence & Cynthia BrownJennifer L. Blevins

Grace Nolan FoundationIn loving memory of Grace Nolan

The Estate of David and Clara Bartley JordanMarc and Diana Meiches

Anonymous Family

William and Mary Blevins Jeffrey A. Blevins Memorial Fund Mary Vann Ola Zuckerman Anonymous Donor

AXA Foundation, Inc.In honor of Jennifer Blevins

Brennan Charitable Foundation

Marcia Lee Anonymous Donor

Bass Golf TournamentArlene & Richard BennettHealth New England

In honor of Mike Daly

Carol & Elliott EngbergIn memory of Scott Lee Engberg

James Gossage, MD

Kenneth & Ginny HuntoonArthur & Pam LewisDavid & Donna MitchellRoger Richman

Stephen & Jane SilkLeo SprecherSt. John Health Foundation

David P. TaylorIn memory of James O. Taylor

Bank of America FoundationKenneth M. Duberstein

Barbara KoskoIn memory of Nicholas & Mary Kosko & Dolores Kaczinski

Frank & Trish Linke

Stewart RahrReliable Churchill, LLLP

M. Clark Sahlie

Shirley Sahlie

Michael & Judy Steinhardt

William F. Wright

Christopher CondronMary Beth FarrellJeanne Funrue

Michael & Mary JohnsonRobert & Sharon JonesWilliam McDermott

Thomas & Christine MotamedKevin & Rivette MurraySteven Rosenthal

Steven & Ursula SchulmanShepherdson FamilyRichard & Karen Silver

David & Joanna StonerDerek & Tracey WalkerDr. & Mrs. Robert White, Jr.

William Dan ArrighiRuth BrilliantChubb & Son, Inc.

Jessica FarinholtBarbara GoodsteinJoan Lawrence-Ross

Jonathon D. Limpert, MDAndrew & Connie Mcelwee, Jr.Robert Rosenblatt

Joan RossState Farm Companies Fdn.Thomas & Nancy Wright

William AccordinoBWS MechanicalBradley BlevinsTimothy & Renee BrownRichard BuchbornCCT, Inc.

Chevron HumankindTom & Lizann ColemanThomas & Donna DanielsRobert & Maria DemeolaRichard & Isabelle DziadzioRobert Farinholt

Cathryn Gabor & Robert FullerSeth GoodchildGrasea Enterprises, LLCEdward & Kathleen KulikAndrew & Jennifer McMahonDaniel & Toni Murphy

Scollard Family FoundationSteel Services, LLCRobert & Sharon TaylorMargo TrunleyAnthony & Trisha TurianoElise Walton

Warner Air, LLCJeremy & Julie Winter

SPONSOR $100 - $249234 Moonachie CorportionDiane BlevinsHoward Yale BlumbergMatthew & Megan BrownSandra ChaseSteven ChiccaThomas M. ChiccaLinda CirilloRobert & Sheryl Crosland

Michael D’AlfonsoFrank & Valerie D’ApolitoVictor & Mary Lou DaleyBridget DermodyCharlyn DummLisa GaffneyNicole HotzapfelDeborah Mans & Mark Hotzapfel

Charles & Mary JohnsonJake & Niki JohnsonDennis & Cheryl KaneRobert & Helen KeithPaul & Anne Schmidt-KrumpAlfred & Helen KumpAnthony & Lisa LicataMargaret LicataMichael & Margaret Marinaro

Charles MarinoAndrew & Karen MartinJames & Marion McDonnellClayton & Jody NissanThomas & Kim O’ConnorTimothy & Lisa PennellStuart PilsburyJennifer RinehartMichael & Jan Rohal

Teresa RothKeith RubinGeriann & Joel TealerMichiel & Maria Van WindenJill WilliamsFrederick & Frances Wong

SUPPORTER $75 - $99Robert & Diand BastressNeil Scott BlumbergJoshua & Susan Canto

Laura CotieChristofer & Megan DollJames Downing, Jr.

J&J CarpentryWilliam R. KonschakMarc & Norrine Levison

Daniel & Shannon LohrmanKevin & Jennifer Holcomb PittsDeborah Trowbridge

Ryan & Lisa Warner


FRIEND $50 - $74

DONOR $1 - $49

GRAND BENEFACTOR $5,000 - $9,999

PRESIDENT’S CLUB $1,000 - $4,999

BENEFACTOR $500 - $999

BRONZE $10,000 - $24,999

Gloria AchesonJonathon & Sarah BoothMurray Brilliant, PhD

Richard BurindaSteven & Linda ForrestPaul Hennessy

Brian JohnstonMike & Gayle McCullarsJames Newby

Timothy & Sharon PalmerVandana SinglaNancy Skjei

Gary & Julianna SteinMartha Tomco

Gary & Toby ArbeiterWilliam & Dawn BourneGregory & Karen Breen

Steve & Lisa FrazerRachel FrazerJim & Barbara Gavin

Robert & Nancy GuytonWilliam & Kathleen KellyBernard & Roberta Levy

John & Melissa MeighanAlan MyersJoseph & Hillary Walsh

Janie Lou WhiteJohn Aldi & Barbara Wild

David & Charlotte MichaelMarc & Diana Meiches

Roger RichmanStephen & Jane Silk

Tim & Cindy Burke Armin & Esther Hirsch Foundation

Ana Marie ChiesaAmy SokolChristopher & Julie JasinskiMark GilsonPaul & Mary GutknechtMichelle Letarte, PhD

Frank & Trish LinkeDavid & Donna MitchellDennis & Maureen RoutledgePeter B. Terry, MD Gary & Anne WeidmanDr. & Mrs. Robert White, Jr.

Don & Debra DrysdaleMarc TopazCraig & Janice DixonKenneth DubersteinHoracio ChiesaGreg & Angela Brown

Howard Lichtig & Kathleen O’Neill

Nissan Dinner DanceJoy MichaelMichael Monaghan

Emma Rae Purdy Lemonade StandThe Ginka FoundationGene Steratore NFL OfficiatingLouis & Elizabeth Acerra

Telford & Pamela AllenKirk ReedJoseph A. Lange IIIGary & Beth SergottEmilia D’AddioMarguerite McCracken

Dolores PedotoRaphael ShortCharles BukauskasJanet BoltinghouseEric JohnsonSue Wesolowski

Deborah KantorStephen & Martha LuskFrank & Josephine CarmonaJoseph DeMaioDean & Patricia MarshJeffrey & Carol Babisz

Leonard & Diana BabiszKevin & Susan HustonJohn & Maria KempWilliam NolanDonald Mintz, MDS. Paul Oh, PhD

Marie Faughnan, MDSt. Clair County Chapter

Thrivent Fin. for Lutherans

Robert & Lee Berkman

PATRON $250 - $499Jean JohnsonRosalynne BerholdRichard & Margaret SyrettAzadeh MozaffariMatthew & Tabitha BurkeHyman BerkoffMichael & Judith DalyDavid GoodwillDennis PowersDavid & Joanna StonerRobert Lange

Jeff & Ginger MalinMarilyn MazzitelliJim NathanSara Palmer, PhDDouglas Ross, MDPatricia JedlickaFrank & Judith SubletteDaniel Goodenberger, MDEileen HansenJenny DavisRoane & Ann Lacy

Elliott & Madeline WortzelWilliam & Elizabeth De HuffArt, Sandra, Lindsey LurieHarry & Roanne LukensGlaxoSmithKline FoundationFred & Bonnie BassingerGene & Trina EstesGary WolffRobert HirschJill WilterdinkRenee Martin

Joseph WayGeorge & Toni NissanJohn & Rosalyn YoungertJason & Angi HerterChuck AtkinsDon & Diana PurdySoroptimist Intl of Capitola-By-

The SeaBrecknock Elementary SchoolCaring Tree FoundationGwen Joseph

Alan KinneyGary BezillaJack NodwellDeborah WallerDibianca Berkman FoundationMaria SharpeLoJack CorporationKevin DoughertyElementis Chromium

Cornell & Martha ClementJanice HairstonSylvia FirarySheila WeissCurt JohnsonMurray Brilliant, PhDLinda DalfonsoSusan ReidVernon WilliamsonJudith KolbLinda BlumbergGary & Toby ArbeiterPhil SubletteLois EspenshadeStephen & Joanne FoulkDonna ShecterAnne Marie CastleSandra YlinenSharon Havens

Sharon LookabaughJames & Jill IbbotsonAlerina PernaNoel & Deanna BakerFern Balch-KlassenJudith LichtigRichard BeguelinNatalie S. Berman, PhDJoan BirrellDavid BoltonKrista ClarkCharles & Mary Jo WittmerJanine BrannenTerry ARmentroutRuth BrilliantLawrence KavanaughRobert & Audrey BradyNancy BrowderJames & Joanne McEldowney

Grady BryantRobert WielandCarl & Valerie NelsonPam WestDonald & Johanna CampbellCecilia CannonNancy Smith CannonBarbara BrownRichard & Norma CastleStanley PrierMark Chesnutt, MDSiri JacobsonLinda AirdMarilyn CooleyClint & Deborah BrizendinePeter & Arlene CroninEvelyn CroniseBarbara FeldmanFrank Curry

Dorothy SimsAli ElhamelJeffrey Pollak, MDBrian JohnstonPatricia DomenigoniMargaret DonnellySusan TaylorBaruch & Teri Cohan-LinkMarie DuncanThomas TrimarcoKatherine TrimarcoElliott & Carol EngbergRoger & Devona EngebretsonEvelyn DeanePatrick Nolan, Sr.Jack FischerAllan MinerAnthony SantiniPatti Jacobson

Joseph GadjoRon CampbellDiane GeddesJerry & Pat MillerBodie CampagnaElaine GranasteinHelene GreenbaumLee MacbethJim HatfieldEmil Howanitz, MDKay HolmDolores SnyderBenedict Fotz, MDLawrence McCartinChristine JoelRonald JohnsonJulia ChoiPhillip & Loretta JohnsonChristine Kennedy

SPONSOR $100 - $249


Robert & Helen KennedyMadline KnappElsa KonigsbergJoan KordBarbara KoskoHoward & Sylvia KurtizkyArthur & Helen LaineAlfred & Joanne LedermanPaul MaczBob & Sue MahyJeanne MathiesonFrank & Eileen McBrideJim & Jaylene McCrackenJames & Ellen McDonald, MDMaurice & Rosalie MeichesRichard MillerCliff NockMichael NolanNorman & Pamela ParentSusan PetrickJim & Beth PlahnDennis & Kathleen PurcellChristy PuttPeter RibicoffStave & Sandra RiskedalPatricia RitcheySally RobinsonLouie PettitGloria RosenkrantzRobert & Winifred SchlossareckJason SchreiberLowell SeibertJason SilberJeffrey & Holly SmithVera SprecherRichard StahlMaude MurrayDocia GeriDavid Brook, MDJames HodgesBridget TalaricoBarbara TeresiDeborah Proctor, MDJames & Elizabeth Sahlie ScottJohn & Jennifer UrbanskiGary Van GenderenEda Berger VidaleKevin & Celia WattsEvelyn WhiteThomas WhiteJohn & Cheryl WilsonMike & Karen Young

Douglas Marchuk, PhDRichard & Mary StevensJ.T. ParkNicholas PathroffJon & Wendy MurrayMaryBeth BlairArthur & Sandra ShmarakKellye BellChristina NehringEdward & Gertrude MahoneyLinda McElvanyGlenda KarrenbrockChristina ContantIlene Calk-CicconeJay GoldbergKatharine Henderson, MS, CGCTed & Carol SalkinNancy ShermoenDonna TerryJames & Ann FirestoneJohn Singleton, MDFrederick NinnisRodney & Ann BarberMark ShannonNancy Marie & Gary TotoBarbara Greig, MDJohn SemDavid & Lori Ann WagnerWalter & Nancy MarrinerMary Ellen KadwellElaine SmithAndrew White, MDPia MalisaniMarie VanellaScott Olitsky, MDDouglas WeverJean ColarussoWalter GardnerSarah GreerMichele RiccardiAllan & Gwen Olitsky, DDSPat SteinerTerry & Juli ThompsonRick MavityAaron OsmunChristine YeagerGeorge CooperElyna ItoDarren McIntosh-TomDonald TruittJoseph & Linda MillsEthel Achuff

Jo Ann WishartArthur & Natalie AuerbachRichard & Sandra KalembaMary Jean LepisRandy & Meredith Kamm BrustHenry & Julianne LangeLinda HuberRoyce & Marjorie NicolaisenReta JankowskiBonnie WenerPatrick Murphy, PhDVivian HollandsworthRalph HerrbachCatherine MorrisAnthony Sawicki, Jr.Leslie SmithJames BartleyMichele GermainTerrence McCaffertyMary JordanNancy AmsterdamRamon SolorzanoSirus & Afsaneh FarivarJohn & Melissa MeighanHarry & Dana BoskR.L. CroomColleen WilsonRonald & Susan Brigden Keith & Dianna BassettEli BlattCharlyn DummHenry Parks MossJanet PeyfussBetty AcerraJames NepsBev HonchorekHoward & Gail RudermanAnn HannaScott & Helen StonerBarbara MundyRita JacobsNelson & Barbara BillsBonnie VanOrnumCaroline AbramsonTammy LivingstonMichael JakinoJohn LaneMichael & Nichol TimothyJulie SpieglerJohn & Mary RomanoDaniel BoltonRichard & Helen Ahles

Victoria BranchDavid LevineRobert HoffmanJohn & Michelle SalamonLeslie HarrisonLinda PurdyRobert ResingerJack & Rose SardicsoWilliam MandevilleRussell HnidyLawrence DobrinShelba BabiszSimpson ManufacturingSally CornillieCraig & Rai RockafellowMichael & Gloria BabiszMichael & Shirley HaewskiHammy HustonScott & Sarah GilbertMark & Kyong Hui OdomBetty HillTerry, Susan, Charles NicholsMark FudalaHazel SandersRonald SandersDave & Karen YeagerRichard OlitskyKaren CarrollArlene HillHolly RandolphJames FloraMichael Pruitt, Esq.Robert & Lisa McMahonGoodSearch.comRobert LundayFraternal Order of EaglesThomas Kinney, MD, MSMEMaurice RhodesEmil & Helen-Veronica SergottDon FaixRoy RogersPatty HaugenLiz SchaeferMelody GoldinerDavid Seibert, Jr.Gene EveslageGeorge McGinnElizabeth MossActive Private Club CommunityKevin HatmakerRon & Barb ShangleAnn Kenyon

Debbie LoopeJoan PadoPatricia Coleman4Front, Inc.Scott & Lori SomersAndrew GreenKelly NissanJerry & Barbara SouthJeff & Nancy PaquetteHubert & Ruth SmithMark & Paula KovinskyFrederic & Peggy EckhauserRichar & Mary Ann ColleyThomas & Larah GardnerSurgery Pharmacy Services,

Inc.Jill SizemoreAndrew LucarelliGeoffrey & Barbara MagrathMarc WaldeckAnn RowenJim & Nancy KennedyGary & Monika TaylorAnton & Alison LahnstonJoy JenkinsElliott Mac KeyMario & Rosa GatooNathan BerkoffSam & Barbara Pierson, Jr.Lorna Rojas KingCharles & Beverly Bell, Jr.Arthur YoungRaymond PuskaricMichael LynchGottlieb & Lipinsky MedicalStephen RitchieMike Carey NFL Officiating

CrewScott & Jahnavi BrennerJeffery TripletteBarkan Management CompanyWilliam JanssJames ReynoldsMrs. Donald KrierMary EismanChristina LarisaAlbert & June HynesWalter & Cynthia ColemanJon Manjarris, MD, PANathaniel & Debra HowardHumpal Physical Therapy

Deborah DayArlene SalkinMary BerryTom & Diane MulvanyBill & Terri PressonDonald BartonFaith HornChris & Maggie FordMaurice LuekenJacqueline Bryan Douglas & Rosemarie HighfillDennis AdamsMaynard Jaycox, Jr.

Daniel Weintraub, MDRonald & Sue Ann KunzLetitia KunzPatty MinnsMargaret PallettSharon McDonaldBarbara VogelMike & Daryl AnisfeldTerese SvobodaJacquiline FordGiorgio ArriMarian HarrisonCarol Beth Davis

George StewartBrad TrueloveKarin PageCheryl NelsonDeborah NerrieSteve & Ann WeaverWilliam RiegerJoshua Murphy, MDStephen & Amy VanBrusselRinaldus & Denise SciclunaHoward & Irene CohenDouglas & Karen CohenLarry & Tina Cochran

Daniel & Christine DudleyJason & Shannon LoverichBrian & Jennifer RindfussEric & Shelly WaltonElwood & Carol WebbThomas BergeronDiane PojanowskiStephen & Joanne DarmofalPat ClayJudith BlossCarla PagnuccoScott & Carla GardnerFrank & Kimberly Delco

Theodore & Dawn BlashakManuel GilKatia GilNazih & Roxana HijaouyGerard & Lisa ClancyPaul & Kelly LasalaKim PuzeyRobyn CowanWayne & Jennifer WilliamsDallas HoganKeith Isaacson, MDJesus & Margaret MorenoGerard & Josephine Murello

SPONSOR $100 - $249, cont.

SUPPORTER $75 - $99

GIFTS UNDER $74Thank you to almost 500 donors that contributed to the HHT Foundation. These important gifts will be listed in an annual report of gifts that is new this fiscal year.


DONATIONS THAT CELEBRATE In Honor Of...

MEMORIAL DONATIONS In Loving Memory Of...

Our 4 Boys Trina & Gene Estes

Our Children Frank & Josephine Carmona

Marc Meiches Happy Birthday Maurice & Rosalie Meiches

Marc & Diana Meiches Happy Anniversary Maurice & Rosalie Meiches Elizabeth Acerra Arthur & Natalie Auerbach

Mr. & Mrs. Louis Acerra Betty Acerra

Nancy Amsterdam Don & Debra Drysdale

Bob Berkman Richard & Mary Ann Colley Leslie Harrison

Theodore Bucci Anne Marie Fillion

John & Cathy Bukauskas Charles Bukauskas

Nicholas Castle Mario & Rosa Gatto

Debra Drysdale Arthur Amsterdam

Hannah Drysdale Don & Debra Drysdale

Lauren Drysdale Don & Debra Drysdale

Duncan Family Marie Duncan

Steve & Sue Eiredam Family Charles Bukauskas Denise Hitzeman Soroptimist Int’l of Capitola-

By –The Sea

Kevin Isenberg Rita Jacobs

Kimberly Isenberg Rita Jacobs

Pat Jedlicka Natalie & Vincent Reis

Bill & Lynn Kosson Family Charles Bukauskas

Frank & Trish Linke Hubert & Ruth Smith

Harold Lisonbee Debbie Holland

Joe & Bonnie Mack Charles Bukauskas

Jamie McDonald James & Ellen McDonald

Mr. & Mrs. John McMahon George McGinn

Carolelee Mendelson Alfred & Arlene Lewis

Jack & Pearl Miner Allan J. Miner

Nissan Family Craig & Rae Rockafellow

Dr. Allan Olitsky & Family Sharon Bennett

Tony J. Plahn Congratulations to the

Graduate Jim & Beth Plahn

Bill & Terri Presson Happy 25th Anniversary Frank & Judy Sublette

Terri & Caitlin Presson William & Cindy Roberts

John & Karen Tegeler Ron & Barb Shangle

Mr. & Mrs. John Tegeler Dallas Hogan

Dr. & Mrs. Robert White, Jr. Margaret Brokaw

Don & Janice Young Dave & Kay Carlson

Kathy Zellefrow Brecknock Elementary School

Allan Salkin Mrs. Arlene Salkin

Bill Stafford Gerard & Jo Ann Peer

Louis Kolb, MD Judith Kolb

Diane Allan Scott & Jahnavi Brenner Susan Lee Elizabeth Masi

Bary Berkoff Hyman Berkoff

Sylvia Berkoff Hyman Berkoff

Frances Ethel Acheson Blevins Laura Cotie Gloria Acheson

Gary Bezilla Merrill Lynch & Co. Foundation

Jeffrey A. Blevins Memorial Fund Thank you Chris Licata and Jennifer

Blevins for hosting the 2nd annual dinner in Jeffrey Blevins' honor.

234 Moonachie CorporationWilliam AccordinoWilliam Dan ArrighiAXA Foundation, Inc.Jennifer L. BlevinsBradley BlevinsDiane BlevinsWilliam & Mary BlevinsJonathon & Sarah Booth

Joshua & Susan CantorChubb & SonLinda CirilloChristopher CondronRobert & Sheryl CondronFrank & Valerie D’ApolitoVictor & Mary Lou DaleyThomas & Donna DanielsRobert & Maria DemeolaRichard & Isabelle DziadzioMary Beth FarrellSteven & Linda ForrestCathryn Gabor & Robert FullerLisa GaffneySeth GoodchildPaul HennessyDeborah Mans & Mark Hotzapfel

Nicole HotzapfelMichael & Mary JohnsonRobert & Sharon JonesRobert & Helen KeithWilliam & Kathleen KellyPaul & Anne Schmidt-KrumpEdward & Kathleen KulikAlfred & Helen KumpMarc & Norrine LevisonAnthony & Lisa LicataMargaret LicataJonathon D. Limpert, MDJane MahoneyCharles MarinoAndrew & Karen MartinWilliam McDermottJames & Marionn McDonnellAndrew & Connie Mcelwee, Jr.Andrew & Jennifer McMahonThomas & Christine Motamed

Daniel & Tony MurphyKevin & Rivette MurrayAlan MyersJames NewbyThomas & Kim O’ConnorWinifred RichmondJennifer RinehartMichael & Jan RohalRobert RosenblattSteven RosenthalJoan RossTeresa RothKeith RubinSteven & Ursula SchulmanScollard Family FoundationShepherdson Family TrustRichard & Karen SilverNancy SkjeiSt. John Health FoundationRobert & Sharon TaylorJoel & Gerriann TealerMargo TrunleyAnthony & Trisha TurianoMichiel & Maria Van WindenDerek & Tracey WalkerJoseph & Hillary WalshElise WaltonJanie Lou WhiteJohn Aldi & Barbara WildJill WilliamsJeremy & Julie WinterFrederick & Frances WongThomas & Nancy WrightDr. & Mrs. Robert I. White, Jr.Tom & Lizann ColemanMichael & Margaret Marinaro

Paul Broseur Ms. Belliveau

Richard Buchborn Chevron Humankind

Neil Buck Judith Bloss

Emily Bukauskas Charles Bukauskas

Joan Campbell Edwin & Linda Crabbe Joan Donaldson John Scott

Dorothy Cantrell Robert & Nancy Guyton Bev Honchorek

Mrs. Lucia Seghetti Ciampini Emilia D’Addio

Beatrice Marie Clevenger Richard & Ollie McGregor

Beverly Conrak Karen C. Sawyer

Denise Lafond Coven Alan & Patti Coven

Donald Ferguson Martha Kord

Rene Flores Elementis Chromium Humpal Physical Therapy William Janss Jon Manjarris, MDPA Jesus & Margaret Moreno

Marilyn Fomalont Gerald Fomalont Leon Peikin & Jan French Naltalie S. Berman, PhD

Thomas & Robert Gallagher Gladys Gallagher

Florence Garcia David Lori Ann Wagner

Leonard Gelfand Kathryn Cleveland Edward & Irene Middleton Beata Thau

Burnadette Gibson Mr. & Mrs. Ed Montgomery

LeRoy Green Robin Row

Helene Greenbaum Merck Partnership for Giving

Mildred Hedke Glenda Zager

Freida Heiland June Barhorst Dale & Kathy Brockman George Brockman Ed & Ron Counts Charles & Wilma Elsass Fast Insurance Agency Freida Heiland Memorial Gifts Larry & Josie Goffena Pat Horstman Chuck & Elaine King

Thank you to everyone who made an anonymous donation to the HHT Foundation, contributed through their local CFC or United Way, or arranged a matching gift through their employer. These types of gifts are truly appreciated by the HHT Foundation.


The National Patient Travel Center Helpline is operated by Mercy Airlift in support of Angel Flight America (which

performs 90% of long-distance charitable medical air transportation in the U.S.), Joe’s House, the National Association of Hospital Hospitality Houses, and the

American Cancer Society.

National Patient Travel Center Hotline:

800-296-1217 Mercy Medical Airlift National Patient Travel Center

DO YOU NEED CHARITABLE MEDICAL AIR TRANSPORTATION

TO REACH AN HHT CENTER? Please complete the information below and return by email, fax or mail.

(Please print neatly)

Name _____________________________________________________________

Address ___________________________________________________________

City, State, Postal Code ______________________________________________

Telephone number(s) ________________________________________________

EMAIL ____________________________________________________________

Email: [email protected]: 410-357-0655Mail: HHT Foundation International, Inc. P.O. Box 329 Monkton, Maryland 21111

YES! I would like to subscribe to a paperless Direct Connection and receive my newsletter WEEKS BEFORE other members!

WILL SPREAD OUT TO FIT HERE

Mike & Sheila Lundy Todd & Lisa Miller Mary O’Boyle Gene & Mary Rickert Deb Ward Ron & Kay Wolters

Janet Hindman Ray & Elaine Bienvenu Joy Jenkins Eddie & Kay Marx Sam & Barbara Pierson, Jr. Barbara Weber

Anne Holder Louis & Elizabeth Acerra Gary & Nancy Marie Toto

Elva Johnson Ronald Johnson

Sandra Kalemba Prudential Foundation

Murial Kaye Sidney & Sandra Kaye

Alan Kinney Merrill Lynch & Co. Foundation

Boyd Lisonbee Debbie Holland

Shelagh Manton Jeremy Manton

Michael Lynn Martin Kim Puzey

Carol Mashore Chevron Humankind

Elizabeth Paulette Mavity Gwen Joseph

Dr. Victor McKusick Frank and Trish Linke

Donna Michell Deutsche Bank of Americas

Edward Millet, Jr. Arlene Vaughan

Henry Parks Moss, Jr. Don & Debra Drysdale

James Murray Jon & Wendy Murray

Joyce Nock Don Faix Jeanne Funrue Patty Haugen Frank & Trish Linke Cliff Nock Roy Rogers

Vicente Pascual Mr. & Mrs. Steven Pascual

Toby Pitchman Arlene Salkin

Bill & Adele Racz John & Donna Halligan

Jack Reader Barkan Management Company

Ronald & Marie Baynes Charles & Beverly Bell, Jr. Sally Brigden Colleen Cannon Robert & Marie Carreiro M.L. (Red) Cashion Walter & Cynthia Coleman Gene Steratore & NFL Officiating Crew

Albert & June Hynes Vikki Johnson King’s Way Golf Club Christing Larisa Diana Logan David Lombard Mr. & Mrs. Michael Lynch Ann Lynch Mike Carey NFL Officiating Crew

Raymond Puskaric Philip Raffa Richard & Mary Beth Reid

Jerry & Marilyn Seeman Jeffery Triplette Arthur Young

Ruth Ribicoff, 1908-1972 Stephen & Jane Silk

Patti Rosen Harris Nydick

Allan Salkin Ted & Carol Salkin

Vincent Sardisco Jim & Barbara Gavin Jack & Rose Gavin

Suzanne Sarnoff Gwendolyn Baker Martin Brodsky Amy Caplan Sara Palmer Alice Sarafan Stephen & Lisa Wegener

Steven Schroeder Kraft Foods Matching Gift

Edith Seibert Robert Chin Jim & Kathy Dodge Gene Eveslage Donald & Cynthia Hoffman

Sharon Keesucker Eunice Plank Susan Schnebly David Seibert, Jr. Elliott & Susan Siegel Highlands Men Golf Assoc. Ralph Weaver

Roberto Vera Elyna Ito

Susan Way Claire Blum

Susan & Daniel Way Joseph Way

Marilyn Weintraub John & Mary Romano

Gloria White Thomas A. White

Daisy Williams Maria Sharpe Nathaniel & Debra Howard Lorna Rojas King Patrick & Laura Gilchrist Karin Kabat Joseph & Deb Mackin Pepsico Foundation LoJack Corporation

MEMORIAL DONATIONS, cont.

Non-Profit Org.U.S. Postage

PAIDPermit No. 200Abingdon, MD

The HHT Foundation is always looking for ways to be more efficient, cost effective, and environment friendly. This new year, we resolve to evaluate all of our programs against these measures.

Starting with the next newsletter, we will streamline the information presented and reduce the number of pages which will affect printing and mailing costs. We will continue to acknowledge tribute and memorial donations in each newsletter but will begin to print an annual report highlighting the total fiscal year (ending June 30) giving of all HHT Foundation donors.

Don’t assume that we have your email address. We only have email addresses for 40% of our members. Many alerts are time sensitive and can be sent through an email campaign which ultimately reduces mailing costs and increases the number of people notified. Please send your email/postal address and telephone number to [email protected] so we can update your records.

Hereditary Hemorrhagic Telangiectasia Foundation International, Inc.(Osler-Weber-Rendu Syndrome)

2009 vol 1: newsletter - hht foundation awards 3 research grants

Documents

clara bartley jordan

ray micro ct

maria demeolarichard

valerie dapolitovictor

mary leigh krock

america shakespeare festival

donna danielsrobert

regional networking alliance