COMMUNITY CALENDAREvaluating and Diagnosing Rare Diseases

A LISTING OF PROGRAMS OFFERED THIS MONTH CAN BE FOUND ON THE REVERSE SIDE.

NEED A DOCTOR? TO FIND A SAINT PETER’S PHYSICIAN, CALL 1-855-SP-MY-DOC (1-855-776-9362).

SEPTEMBER 2015

By law, every baby born in New Jersey must be screened shortly after birth for disorders, many of which are genetic, that can cause serious health complica-tions. In 2016, the New Jersey Depart-ment of Health will require that every newborn also be screened for seven additional rare diseases – six lysosomal storage disorders as well as X-linked adrenoleukodystrophy. The conditions are not new, but they are typically dis-covered only when children develop symptoms.

“Most genetic conditions are a spec-trum that can present throughout the life cycle, anywhere from in utero up through advanced geriatrics,” says Debra-Lynn Day-Salvatore, MD, PhD, FAAP, FACMG, who chairs the Saint Peter’s University Hospital Department of Medical Genet-ics and Genomic Medicine. “The disor-ders can be a mystery until a diagnosis is made. The goal of screening newborns is to test for conditions so that that they can be offered treatment before they start having symptoms.” Early treatment is the key if life-threatening complications are to be avoided later in the child’s life, explains Dr. Day-Salvatore.

Newborn screening Newborn screening began nationally in 1963 using a method developed by microbiologist Dr. Robert Guthrie to test infants at birth for a genetic disorder known as phenylketonuria (PKU). Test-ing, early detection and treatment can help prevent irreversible neurological damage. Screening requirements differ from state to state but all states require screening for at least 26 conditions.

Currently hospitals in New Jersey are mandated to screen for 54 genetically-influenced disorders – 44 metabolic conditions, two endocrine disorders, four hemoglobin disorders, and four others that include Cystic Fibrosis, congenital hearing impairment, critical congenital heart disease, and severe combined immunodeficiency, explains Dr. Day-Salvatore.

The lysosomal metabolic conditions hos-pitals will screen for in 2016 are: •Gaucher disease – affects liver,

spleen, bones and bone marrow •Fabry disease – affects kidneys, heart

and skin •Krabbe disease – affects the nervous

system

•Niemann-Pick disease – affects the spleen, liver and lungs

•MPS1 (Hurler Syndrome) – affects the spleen, liver, joints and eyes and causes developmental issues and deafness.

X-linked adrenoleukodystrophy, the other condition for which newborns will be screened, affects the nervous system and the adrenal glands. The condition was made famous by the movie, Lorenzo’s Oil, which starred Susan Sarandon as a mother seeking treatment for her son.

The Saint Peter’s University Hospital Department of Medical Genetics and Genomic Medicine is home to one of the largest, most comprehensive lysosomal disease therapy centers in the United States. The department evaluates, man-ages and treats rare diseases identified at birth or later. Reena Jethva, MD, who is board certified in Pediatrics, Clinical Genetics, and Biochemical Genetics, re-cently joined the staff. The Saint Peter’s genetics team is also made up of ge-netics counselors, nurses, a metabolic nutritionist and a pediatrician. Expanding education and outreach to local physi-cians and the community are among the department’s priorities in the new year, especially in light of the new screening requirements.

Treatment of rare diseases It is estimated that there are approxi-mately 7,000 rare diseases affecting 30 million Americans, 50 percent of whom are children. Diagnosis of rare diseases is commonly delayed, if it is ever made at all; resulting in unnecessary test-ing, missed opportunities to avoid or

decrease sometimes life-threatening medical complications, failure to provide cutting-edge therapeutic options, and diminished quality of life. Rare diseases are lifelong and at least 80 percent are known to have a genetic cause.

Saint Peter’s University Hospital has provided comprehensive clinical genetic services to tens of thousands of patients during the past 25 years. During the past 14 years alone, individuals have been referred for evaluation, diagnosis, management, treatment, counseling, and emotional support for more than 2,000 different conditions.

As a state-designated regional center for newborn screening and genetic services, the Department of Medical Genetics and Genomic Medicine pro-vides inpatient and outpatient services to patients of all ages with a variety of genetically-influenced conditions includ-ing abnormal newborn screens, con-firmed inborn errors of metabolism, birth defects, chromosome abnormalities, hearing impairment, craniofacial and ge-netic bone disorders, autism spectrum, cancer, and diseases of the heart, lungs, kidneys, brain, skin, muscles, eyes, and gastrointestinal and genitourinary tracts. Saint Peter’s provides trials for drugs used in the treatment of disease and services that include a broad range of pre-conception, prenatal, and postnatal genetics counseling as well as pregnancy-specific management and treatment of maternal metabolic, lysosomal, and genetic conditions.

Dr. Day-Salvatore says advances in ge-netic testing not only bolsters the clini-cal skills required to make an accurate diagnosis, but should lead to improved therapeutic options.

“These diseases are slowly progressive and are often not identified until irrevers-ible harm has occurred”, says Dr. Day-Salvatore, who serves as chair of the New Jersey State Metabolic Task Force. “Identifying patients who would benefit from early management and treatment will help avoid significant long-term mor-bidity and unnecessary mortality”.

Call 732-745-6659 for more information about Saint Peter’s newborn screening program.

Dr. Debra-Lynn Day-Salvatore with patient Jose Rosales who receives treatment at

Saint Peter’s Department of Medical Genetics and Genomic Medicine.

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SPUH-September 2015 FINAL.indd 1 8/18/15 7:29 PM

Alzheimer’s/Dementia Caregivers Support Group JULY 13, 10:00 AM – 11:30 AMSaint Peter’s Adult Day Center

SUPPORT GROUPSAutism Family Support Group SEPTEMBER 13, 3:00 PM – 5:00 PM877-886-9462

Alzheimer’s/Dementia Caregivers Support Group SEPTEMBER 8, 10:00 AM – 11:30 AMSaint Peter’s Adult Day Center200 Overlook Drive, Monroe Township Rachel Kallish, CSW •609-655-6853

Bereavement Support GroupSEPTEMBER 3 & 17, 7:00 PM – 8:30 PM732-745-8565

Caregivers Support Group/MonroeSEPTEMBER 10, 1:30 PM – 3:00 PM Saint Peter’s Adult Day Center 200 Overlook Drive, Monroe Township Stephanie Fitzsimmons-Sexton, RN, APN 609-655-2220

SHARE Support Group(for those who have suffered miscarriage, stillbirth or neonatal death)SEPTEMBER 10, 7:00 PM – 9:00 PMIrina Mariano-Brown, MSW, LCSW 732-745-8522

CANCER SUPPORT Breast Cancer Support GroupSEPTEMBER 21 ONLY, 7:00 PM – 8:30 PMRegistration required.Cancer Institute of New Jersey DeborahLeif,MSW,LCSW•732-235-7011

Free Healthy Steps Exercise Class for Cancer SurvivorsTUESDAYS, 6:00 PM – 7:00 PM THURSDAYS, 10:00 AM – 11:00 AM Saint Peter’s Sports Medicine Institute 562 Easton Avenue, Somerset Call 732-745-8570 to register. Must have medical clearance from a physician.

Gynecologic Cancer Support GroupSEPTEMBER 8, 7:00 PM – 8:30 PMCancerInstituteofNewJersey•732-235-6792

Latina Women with Cancer Support Group SEPTEMBER 12, 10:00 AM – 1:00 PM Sister Marie de Pazzi Conference Center Light lunch will be served. Free, but registration requested. Sessions conducted in Spanish. Call 908-658-5400 for more information.

Living with Cancer Support GroupSEPTEMBER 9 ONLY, 7:00 PM – 8:30 PMCancer Institute of New JerseyBarbaraHale,LCSW•732-235-7557

COMMUNITY MOBILE HEALTH SERVICES For more information about screenings and educational programs, please call 732-745-8600, x8903. Blood Pressure/Blood Sugar Screenings SEPTEMBER 18, 9:30 AM – 10:30 AM New Brunswick Senior CenterResidents only.

SEPTEMBER 30, 12:30 PM – 2:00 PM SHIPS at Saint John’s Episcopal Church, Somerville

Blood Pressure/Blood Sugar/ Cholesterol Screenings/Flu Shots SEPTEMBER 11, 8:00 AM – 3:30 PM Michael Foods, ElizabethEmployees only.

Blood Pressure/Blood Sugar/ Cholesterol Screenings & Sun Damage Screening Using the DermaScan Machine SEPTEMBER 16, 10:00 AM – 3:00 PM American Standard Brands, Piscataway Employees only.

Blood Pressure/Body Mass Index Measurement & Nutrition Information SEPTEMBER 24, 6:00 PM – 8:00 PM Van Derveer Elementary, SomervilleStaff and parents only.

Bone Density Screening SEPTEMBER 9, 9:00 AM – 11:00 AM Ethicon, SomervilleEmployees only.

Health Fairs & EventsSEPTEMBER 12, 10:00 AM – 2:00 PMCranbury DayMain Street, Cranbury

SEPTEMBER 19, 11:00 AM – 2:00 PMFranklin Day FestivalColonial Park, Franklin

SEPTEMBER 22, 9:30 AM – NOON Old Bridge Senior Center Residents only.

SEPTEMBER 23, 10:00 AM – NOONMiddlesex County Association of RealtorsPerth AmboyMembers only.

SEPTEMBER 29, 10:00 AM – 2:00 PMSomerset Senior Center, FranklinResidents only.

Hearing ScreeningSEPTEMBER 3, 2:00 PM – 3:30 PMDeForest B. Soaries, Jr. Residences at Somerset, Franklin

Nutrition Talk SEPTEMBER 17, 11:30 AM – 12:30 PM American Standard Brands, Piscataway Employees only. Presenter: Laura Vetter, RD

Sun Damage Screening using the DermaScan MachineSEPTEMBER 30, 10:00 AM – 11:00 AMPerth Amboy Office on AgingResidents only.

Vision ScreeningSEPTEMBER 24, 9:00 AM – 11:00 AMJohnson & Johnson, New BrunswickEmployees only.

DIABETES EDUCATIONChildren’s Insulin Pump GroupSEPTEMBER 8, 6:30 PM – 8:30 PM 732-745-8600, x8751

Diabetes Education Support Group/ New BrunswickSEPTEMBER 16, 10:30 AM – 11:30 AM Center for Ambulatory Resources (CARES)240 Easton Avenue, New BrunswickFor more information, call 732-339-7630.

Diabetes Self-Management Education HELD MONDAYS AND TUESDAYSRegistration and doctor’s prescription required.732-745-6667

Gestational Diabetes Self-Management ClassHELD WEDNESDAYS AND THURSDAYSRegistration and a doctor’s prescription required. 732-745-6667

Diabetes Education Support Group/ New BrunswickENGLISH SEPTEMBER 8, 10:00 AM – 11:30 AM

SPANISH SEPTEMBER 1, 10:00 AM – 11:30 AMSaint Peter’s Family Health Center 123 How Lane, New Brunswick Call 732-339-7627 for more information.

PARENT EDUCATIONFor information, fees and registration, call Parent Education at 732-745-8579, unless otherwise indicated.

Baby Care SEPTEMBER 20, 9:00 AM – 1:00 PM

SEPTEMBER 14 & 21, 7:00 PM – 9:30 PM

Breastfeeding ClassSEPTEMBER 19, 9:00 AM – 11:30 AM

Breastfeeding Support Group SEPTEMBER 4, 1:00 PM – 2:30 PM

Infant Massage SEPTEMBER 15, 6:00 PM – 7:30 PM

New Mom Support Group SEPTEMBER 4, NOON – 1:00 PM

Postnatal Yoga and Exercise Class(four-week sessions)FRIDAYS, 6:00 PM – 7:15 PM Registration required.

Prenatal Yoga and Exercise Class(four-week sessions)WEDNESDAYS AND FRIDAYS7:00 PM – 8:30 PM Registration required.

Prepared Childbirth ClassesMONDAYS, THURSDAYS, OR ALL-DAY SESSIONS SECOND AND FOURTH WEEKENDSRegistration required.

Sibling Class SEPTEMBER 19, 12:30 PM – 1:30 PM

Catholic hospital sponsored by the Diocese of Metuchen | State-designated children’s hospital and regional perinatal center

Major clinical affiliate of Rutgers Biomedical and Health Sciences | Affiliate of The Children’s Hospital of Philadelphia

SEPTEMBER 2015

All programs are designed for community members and are held at Saint Peter’s University Hospital, unless otherwise noted. For more information or to register for a program, call the contact number listed or visit saintpetershcs.com/newsandevents.

EMS EDUCATION SERIESTHURSDAY, SEPTEMBER 247:00 PM TOPIC: PATIENT ASSESSMENT REVIEW Free; refreshments served. CEU credits. Call 908-238-3254 to register.

BARIATRIC WEIGHT LOSS SEMINAR THURSDAY, SEPTEMBER 107:15 PM - 9:30 PM For more information, and to register, call 732-745-8600, x8159.

RARITAN RIVER FESTSUNDAY, SEPTEMBER 27 NOON – 5:00 PMBoyd Park, New BrunswickCommunity Mobile Health Services staff will be providing screenings and education at this annual fall city event.

LOOK GOOD FEEL BETTER PROGRAMMONDAY, SEPTEMBER 284:00 PM - 6:00 PM Radiation Oncology DepartmentConference Room, Ground Floor American Cancer Society program for women undergoing treatment for cancer. Registration is required for participation. For more information, call 1-800-227-2345.

254 Easton Avenue, New Brunswick, NJ 08901 | 732-745-8600 | 800-269-7508 | www.saintpetershcs.com

SPECIAL EVENTS

FREE COMMUNITY LECTURESBreast HealthSEPTEMBER 2, 3:00 PMPresenter: Lisa Hopkins, MD, Breast SurgeonRegency Adult Community, Monroe Township

Preventive Foot and Ankle CareSEPTEMBER 2, 1:00 PMPresenter: Ben Gujral, DPM, PodiatristStonebridge Adult Community, Monroe Township

10 Steps to Healthy Digestive HabitsSEPTEMBER 8, 1:30 PMPresenter: Arkady Broder, MD, GastroenterologistConcordia Adult Community, Monroe Township

Fitness and NutritionSEPTEMBER 14, 1:00 PMPresenter: Sang Song, DO, PhysiatristRossmoor Adult Community, Monroe Township

Are you at risk for diabetes and hypertension?

If you do not have insurance or not enough of it to manage chronic illnesses such as

diabetes and hypertension, call Saint Peter’s Diabetes and Hypertension Center at Saint Peter’s Family Health Center, 123

How Lane, New Brunswick, at 732-339-7672.

This calendar is for information only. Do not rely on it to make healthcare decisions on your own; instead, talk with your healthcare provider for advice and treatment. Do not ignore medical advice or delay seeking it because of something you read here. We do not suggest or endorse that you have any tests, use products, or use other information in this document without advice from your healthcare provider.

MATERNITY TOURS

View our interactive maternity tour, which includes pictures of our private

labor and delivery suites and our modern mother/baby units, at www.saintpetershcs.com/MaternityTour to get an idea of what you can expect when you deliver at Saint Peter’s.

To schedule a tour, call Parent Education at 732-745-8579.

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