growing times summer 2015

1The MAGIC Foundation Ph: (708) 3830808 magicfoundation.org

Growing Times

Annual Convention July 9-12, 2015MAGIC Foundation for Childrens Growth will host its Annual Convention from July 9th - 12th, 2015 in Lombard, IL (a suburb of Chicago). Registration is now open. Visit MagicFoundation.org for more infor-mation and to register online. If you have never attended, it is a great opportunity for you to network with other families, and

for your child to meet other kids with the same disorder. The con-vention is affordable and fun for the entire family.

Thanks To Our Fundraisers!MAGIC Foundation thrives because of the efforts of so many incredible people who raise funds. Thanks to all of the wonderful people and their efforts to grow the MAGIC Foundation around the country.

Good luck on the links to all the golfers participating the annual golf outing.

Summer 2015

MAGIC Foundations Quarterly Newsletter

Table of Contents

Arnold-Chiari Malformation: Michelle Scognamig Chronic Renal Insuffiency: Lola Fortier Down Syndrome (re: growth): Linda Blevins Disorders of Sexual Dev.: Ellen Jones Graves Disease: Sharon McHugh CAH: Michele Bacus Central Precocious Puberty: Sonya McTillman Cushing Syndrome: Karen Vidal GHD Children: Teresa Tucker GHD Adults: Ann Rumrill IGFD: Jamie Sorensen Hypophosphatasia: Tracy Porreca Jeunes Syndrome: Erica Rieger

McCune-Albright Syndrome/Fibrous Dysp: Kc Sheehan Panhypopituitarism: Janet Meehan Russell-Silver Syndrome: Dayna Carney Schwartz-Jampel Syndrome: Rani Elway Small for Gestational Age: Megan Donnell Thyroid Disorders (Hypo): Blythe Clifford Turner Syndrome: Gretta DeSantis

To email a Network Director or Consultant send an email to: [email protected] and write Help or their personal name in the subject line. We will be glad to forward it to the correct person for you.

Division / Network Directors

About The MAGIC FoundationThe MAGIC Foundation is a charitable non-profit organization created to provide support services for the families of children afflicted with a wide variety of chronic and/or critical disorders, syndromes and diseases that affect a childs growth. Since its inception the Foundation has grown to include support services for adults who were also impacted by these disorders. Our commitment and vision is, to reduce the emotional and physical trauma caused by growth disorders, resulting in healthier, happier children and consequently, adults.

Mary Andrews CoFounder, CEO [email protected]

Dianne Kremidas Executive Director [email protected]

Pam Pentaris Office Manager [email protected]

Jamie Harvey CoFounder [email protected] Teresa Tucker, CoFounder, Patient Advocacy [email protected]

MAGIC Foundation for Childrens Growth6645 W. North Avenue Oak Park, Illinois 60302Ph: (708) 3830808FX: (708) 3830899www.MAGICFoundation.orgFacebook.com/MAGICFoundation

Parent Help Line: (800) 3 MAGIC 3


MAGIC Convention- Save the Date..............................................................................3Russell-Silver Syndrome (RSS) Division News..............................................................4Hypophosphatasia (HPP) Division News.......................................................................7Central Precocious Puberty (CPP) Division News........................................................10Panhypopituitarism (PAN) Division News...................................................................12Small for Gestational Age (SGA) Division News...........................................................14Optic Nerve Hypoplasia (ONH)/Septo Optic Dysplasia (SOD) Division News...................16Donations & Fundraising...........................................................................................18Growth Hormone Deficiency (GHD) Division News.....................................................20Thyroid (THY) Division News.....................................................................................23Congenital Adrenal Hyperplasia (CAH) Division News................................................26McCune Albright Syndrome (MAS) Division News.......................................................28


SAVE THE DATE: MAGIC CONVENTION 2015July 9 - 12, 2015 in Lombard, IL (Chicago area)

The convention program and registration form is now available on line at www.magicfoundation.org. Also, CPP, AI, CAH and HPH segments have been added to the 2015 Convention.

Board of Directors (all volunteer) Rich Buckley, Chairman Ken Dickard, Vice Chairman Courtney Lance Morakalis, Secretary Marty Nye, Treasurer Judy Lucas, Director

Founders Board Mary Andrews Jamie Harvey Teresa Tucker James Andrews

Medical Advisors Barry Bercu, M.D. Lawrence Deeb, M.D. Mitchell Geffner, M.D. Mitchell R. Goldstein, M.D. Amid Habib, M.D. Madeleine Harbison, M.D. Peter Lee, M.D. Richard Levy, M.D. Kurt Midyett, M.D. Irene Netchine, M.D. Katrina Parker, M.D. Songya Pang, M.D. Kirt Simmons, D.D.S., Ph.D. Michael Swinyard, M.D. Jonathan D. Wasserman, M.D., Ph.D. Amy Wisnewski, Ph.D.

Volunteers include: Stephen Tucker, Stephanie Dickard, Dale Murphy, Jennie Snoply, Allison Andrews, Margaret Burke, Terry Giffith, Sarah Griffith, Maria Pentaris, Allan Santos, Teresa Dickard, Ken Dickard, Brenda Callahan, and Chris Murphy.

Special Interest Group Directors School Issues: Yvette Getch Yahoo Groups for Parents Moderators GHD: Teresa Tucker Hypothyroid: Blythe Clifford ISS: Lori Cowherd IGFD: Jamie Sorensen MAS/FD: Russ Hazael, Rita Jaskoli ONH/SOD: Krystal Miller Panhypopit: Kim Lockwood, Jalena Bowling, J. Armstrong Russell Silver Syndrome: Ken Merrithew Small for Gestational Age: Megan Donnell Turner Syndrome: Gretta DeSantis Facebook Groups for Parents Moderators Congenital Adrenal Hyperplasia: Michele Bacus Growth Hormone Deficiency in Children: Teresa Tucker Hypophosphatasia: Tracey Porreca Hypopituitarism: Carrie Cagney Idiopathic Short Stature: Cari Jones Insulin-like Growth Factor Deficiency: Jamie Sorensen MAS/FD: Kc Sheehan, Tamara Gordon ONH/SOD: Krystal Miller PAN: Ann Perry , Janet Meehan Precocious Puberty: Erin Alulis RSS: Sara Bissonnette, Stephanie Scott, Jodi Zwain Small for Gestational Age: Megan Donnell Turner Syndrome: Kelly Thomas US Military: Megan Donnell British Forces: Laura Stuart, Kathryn Hanson Facebook Groups for Children - (must be 13+ years) MAGIC Kids & MAGIC Brothers & Sisters:

Closely monitored by Stephanie Dickard

Russell-Silver Syndrome (RSS) Division News


Amy: My pregnancies with my first two boys were nice, relatively stress free, and compli-cation free, in fact I completed my second year of university while pregnant and handed in my final assignment a week before he was born. Ive never experienced the anguish of going over due because my first was born the day before his due date after a long 25 hour labor, with the only complication we encountered being my dilating stopping progression and me needing a drip to kick start it again.My second labor from the first twinge to him being delivered was only 3 hours; he was born 45 minutes after we ar-rived at my local midwife led unit in the birthing pool, exactly how I wanted. Both these babies were good weights 8lbs 1 and 8lbs 5 and were happy healthy chubby babies.

Id always said to my husband I wanted 4 children (I dont like odd numbers) and I always wanted them close together in age. There is 7 years and 18 years between me and my sisters which I always thought was too long, I dont have a close relationship with them,

Dayna CarneyConsultant for RSS and Mom to Alyssa(RSS)

so I wanted that for my kids, instead.

Mylo was very much planned, and I had been track-ing my cycles for almost a year before conceiving him. Needless to say I was very surprised when we went for my 12 week scan and they put me back two weeks. I had been spot on with my previous two, so was surprised I could be so far out with my estima-tions. My first trimester was stress and worry free like my previous pregnancies, and I was all set for another enjoyable time. It all started going downhill at around 13 weeks. I got the flu really bad and was in bed for just over a week recovering, barely eating or drinking. At 14 weeks I had a bleed, quite a heavy one, this was one of 10 biggish bleeds throughout my pregnancy with me having 9 hospital admis-sions. Each time I stayed in hospital the bleeding eased off to old blood, scans shown baby was OK and there was no visible sign of where the bleed-ing was coming from, so they always sent me home again, to rest. Having a then 3 and 1 year old to look after, while the husband was at work made this rest hard to do, something that Ill always feel guilty about, I should have rested up more.

From the first bleed, I didnt have a day of having no bleeding, although I had more old blood days than fresh blood days. Every time I had a fresh bleed I would have to go in for the checks which soon be-came part of my routine (bp, temp, scan, monitor, and speculum). At one stage one of the doctors sus-pected my placenta was mildly abrupting, but clot-ting back into place, but another doctor would say it was unexplained bleeding. I found it very frustrating that none of the doctors could agree with one anoth-er and were constantly contradicting one another. I also found it hard and frustrating when they would take to one another at the end of my bed when I had been kept in like I want even there..... this was par-ticularly hurtful when one doctor had students with her and students asked why I had to be kept in for

24 hours minimum, doc replied it was just in case the bleeding was the first sign of the start of labor or something, she went on to say that if I didnt come in when I started bleeding, and stayed home, because of the distance I lived from the hospital, (these are her words exactly) it would most likely result in me getting to the hospital too late and my baby being dead!!

I had already been in and out with bleeding, not having a single day where I couldnt wear a pad, doctors constantly contradicting one another and now a doctor talking about my currently alive baby possible ending up dead if I dont get to the hos-pital in time! My blood clots and bleeding was se-vere enough at my 26 week hospital admission that they decided to give me the steroid shots. The scan this time also showed my fluids were now low and the baby had dropped from the 50th centile to the 9th, they now wanted me to have fortnightly scans to check fluid and growth, and to check dopplers because of the bleeding. Scan at 28 weeks had baby drop to around the 5 centile and the last growth scan I had at 30 weeks had him between the 1st and 2nd centile, my fluids, although low, remained the same.

After my last hospital stay at 29/30 weeks I decided I was not going in again with just a fresh bleed, I was fed up of being passed around, them shrugging their shoulders, not having any answers, or even a forward plan that I would only go back in if I had pain with the bleeding. I wasnt being completely reckless; I was having the baby monitored, and my bp/temp checked 3 times a week at my local mid-wife unit as requested by my consultant, who I had my first appointment with at 30 weeks. The plan was to get me as close to 37 weeks then review things. They said there was no way I would go to term with the bleeding and the small baby.


He was officially diagnosed as asymmetric IUGR now, but because he was small, it may be worse for him to be born too early, so now Im hoping to keep him in as long as possible.

Between 24 weeks pregnant and 30+ weeks, I hadnt had a full week at home; I was frustrated, and fed up of being away from my babies. Weeks 31 to 32 were bliss, a full week in my own bed :), but at 32 weeks exactly the bleeding started again. I decided to not go in, because I had a con-sultant appointment the next afternoon anyway. The next day at my appointment I was having my monitoring like usual, and had decided I wasnt necessarily going to mention my bleeding to the consultant because like I had said before I was only going to bother if I had any pain too, and I was in for monitoring anyway, so I would know if baby was OK that day anyway.

It was only because the midwife was looking to book me for my next 3 monitoring appointments the following week that she asked about the bleeding so I told her it had started back up again the previous night. She said, because I was over 28 weeks, she was now aloud to do the speculum, and did I want her to do it now out the way, be-cause it was highly probable that the consultant would want me to have one anyway. I said that was fine. When I took my bottom half clothes off this time, I leaked a line of blood on the hospital bed, this had never happened before. The mid-wife said she would not be able to do the specu-lum because it was just filling up with blood. This was quite heavy bleeding. She wanted to send me up to the consultant unit in an ambulance, but I was adamant I was not going up in one, I agreed to go up there, even though I didnt want to because I was expecting the usual routine, and I knew they would be wanting to keep me in for obs overnight so I promised I would go straight up there myself. Instead I went home to pack an overnight bag, for some reason I wanted to un-pack and repack my labor bag, and we popped over to get me some snacks for my stay and a new book, then we finally made our way up there.... the usual routine unfolded and surprise, surprise I was been kept in for observation.

I noticed when I had my shower that evening I was still bleeding quite a lot, unusual for my bleeding pattern, usually it eases off, then goes old blood, this time it was still fresh and still quite a lot. I went to bed as usual that night, in a full ward of heavily pregnant waiting to be induced mummies.Around2 am, I woke up feeling twing-es. Not normal, I lay there for a while in the dark, just monitoring the twinges myself, counting in my head the time between them. I had a feeling these were contractions, and about an hour and a half later I decided to go to the loo, change my pad and ask for some pain killers. I was not asked why I wanted them, they just handed them over.

An hour or so later, I was absolutely convinced I was contracting, and waited another 40 minutes before buzzing for a midwife to let her know my suspicion.... I was told not to be silly; it was too early for me to be having contractions, its most likely Braxton hicks..... I think I know the differ-ence!!!! She sat and felt my tummy a bit, but when I had the pains my tummy wasnt going hard, but the pain in my back was unbearable. She popped her little ear thing to my tum, and thought ba-bies heart rate was too high, so said she would pop me on the monitor. If the babies heard rate hadnt been high she wouldnt have put me on the monitor.

I was on the monitor on the ward for over an hour, it was picking up the contractions, but was also showing the babies heart rate dipping when I was contracting, so the decision was made to send me round to the labor ward for continuous monitoring and to see what my body decided to do labor wise. Because of me bleeding they couldnt give me peccaries to try to stop the la-bor, so it was down to my body. I changed my pad at this stage, and they were shocked at how full of blood one of their super thick hospital pads was after such a small amount of time, and were com-menting on how pale I was. I also had to go on a drip now for fluids and antibiotics because of GBS. I had to wait for a doc to come and put this in though because I have stupid veins that are small and sometimes hard to find. I really wanted to get hold of my hubby and let him know what was going on, but my battery was low, I couldnt reach my phone when strapped to the monitor so the midwife said she would ring and leave him a message.

At8 oclock I was given an internal to check my cervix, and told I was 3cm with a bulging mem-brane. Babys heart rate was still dipping though, so they decided they were going to rupture my membranes because this can sometimes help the heart rate recover better. If this made no dif-ference, they said I was going to have to have an emergency section. My baby was going to be born today! They popped the waters at8.36am, and the doc was shocked at how a little water came out, and that the waters were blood red. I needed my hubby here now!!! I was scared, alone and was doubting I could do the whole labor thing. I managed to get hold of him; he was drop-ping the kids off and making him way up to me. Until then I was on my own! Ten minutes after they popped my waters, babies heart rate was not recovering so the decision was made, I was having the section. The midwife went off to get me my surgery socks and gown, and a lady from neonatal came in the room to explain to me what I could expect from my 32+2 week baby. I was petrified, but I just wanted it over, my baby out and my baby safe and alive.


After she left, the doc came in to talk me through the consent form, part way through him talking me through this I had a contraction, so he stopped to let me breath through it, I felt a little pressure and water gush a bit out of me, then it eased off.... he continued talking through what my risks would be with surgery on the consent form and I felt my body trying to au-tomatically push.... I told him my body was trying to push, he was telling me to breathe through it and not to worry.... easier said than done, just then my mid-wife walked in the room holding my surgery clothes and I said aloud, something is happening, I think the babys head is out, no I think the baby is out, she lifted up the bed sheet and low and behold there is my tiny little one, facing upwards, born, and gasping for air....

At that moment madness happens, she bangs the alarm on the wall, lots of people come rushing in, there is no towels, no clamps nothing in my room ready because I was supposed to be going down to surgery in a minute, she couldnt move the baby be-cause my cord was too short. Finally they cut the cord and whisked him over to their little unit in the corner, heat lights on, air on, he cried!!!!! It was the best sound I had ever heard, he was wrapped in towels, I was quickly shown him and able to give him a quick kiss on his little head, and he was gone. Other than the midwife I was alone..... No supporting husband by my side, and now no baby in my belly. Just after, my small placenta was delivered, I was now on IV fluids, baby would be needing antibiotics as well as anything else he needed because of the super-fast labor and not enough time for me to have the drip in labor.

Finally, 15 minutes after our baby was born, Gavin ar-rives. We find out a little later, he weighed 2lbs 14.5, was breathing on his own and was stable. We would soon be able to go and see him. Mylo needed to go on IV antibiotics because I had GBS and hadnt had the time to administer the antibiotics through me be-fore he was born. Other than this he was a perfectly healthy albeit it tiny little newborn. (I believe to this day that the reason he did so well after birth with his breathing etc. was because he was in actual fact a 34 weeker by my original dates and not a 32 weeker by their dates) Mylo only had to stay in the neonatal unit for 4 weeks as a feeder and grower and came home weighing exactly 4lbs.

Mylo was born with an extra thumb so we were to have extra pediatric appointments for this. Mylo

failed to show catch up growth at all and was classed as a failure to thrive child. We had an appointment through to go and see a geneticist who suggested with his various features/Characteristics he may have one of two conditions. Russell Silver Syndrome or Fanconia Anemia. He had bloods taken and we were told it may take up to 3 months to get the results through. In September 2014 we had the confirmation Mylo has Russell Silver Syndrome 11p15 (of the 52 common RSS & SGA Physical Characteristics & Func-tional Abnormalities list in the RSS Guidebook, p.28 Mylo displays 23 [obviously some are female only or can only be gauged as he gets older])

Other than being told Mylo has Russell Silver Syn-drome, the doctors were unable to advise further and suggested the MAGIC Foundation website as a re-source for information. Mylo is now 22 Months old (20 months corrected) and 69cm in length and just over 17lbs. He is still -3 SD below the mean for length and is almost on the 0.4 centile line for weight at corrected age. We have had one appointment with our pediatri-cian since the diagnosis where he discharged us from his clinic as he doesnt specialize with RSS children, just premature children. We have also had one other appointment with the endocrinologist who was not clued up on RSS at all and we had to tell him a lot of things. He said he wouldnt qualify for GHT under RSS but would under SGA; however we would have to wait until age 5. Until then he plans to see us every 6 months to take Mylos measurements as, in his words Mylo is at an age where he can only maximize his own growth potential through diet and GHT would not work on him at this age Luckily Mylo has never had and feeding issues, hes a great eater, although hes a grazer and wont eat a full meal, he is growing slowly, but is not getting on the chart.

Obviously due to his RSS, Mylo is not going to be able to reach his optimum growth potential on his own. We have an appointment with Dr. Stanhope in London onApril 10thwhich we are very excited about. I am hoping he will be able to clarify what we can be do-ing to help Mylo the best, and also enable some NHS doors to open especially with regard to GHT. Mylo has just started walking which is wonderful, however we now have to face the nightmare of shoes. He is only a size 1 and we cant find any hard soled shoes that fit. Mylo also has one leg slightly shorted/thin-ner with a smaller foot too. Other than his small size, Mylo is just as boisterous as his big brothers and is already demonstrating his short temper (courtesy of his father) when he cant reach or do things (namely climbing on the bed or sofa)

Hypophosphatasia (HPP) Division News


Tracey PorrecaConsultant for HPP and Mom to Nicholas & Cassie

Hello! My name is Tracey Porreca.I am the Division Consultant for the MAGIC Foun-dation. Nearly 20 years ago when my son was diagnosed with Hypophosphatasia (HPP), the MAGIC Foundation helped start the first support group for this disorder. My daughter and I were also diagnosed and at that time, I was able to network with many families, and we even had a couple of meet and greets at MAGICs AnnualEducational Conference.

Life takes many twists and turns and I had to step away for several years, but MAGIC has always been here, ready to serve the families in the Hypophosphatasia (HPP) com-munity. My children are grown now and with renewed energy, Im happy to be back to support and network families.

The program for the convention is finalized and we already have families registered for our fantastic pro-gram. Please read on for more on that. As always, if you have questions or concerns, or just need to chat, were just a phone call or email away. We also have two wonderful Facebook groups, one being for adults and the other for parents of affected children. If youd like to join one of the groups, wed love to have you! Please read the instructions in the Facebook header about sending an email asking to join.

Because we might not already know you, and be-cause we want our families to be able to communi-cate without worry, you will be sent an email asking about your interest in joining our group. Thats it easy! If you have any question, please dont hesitate to contact MAGIC directly, or email me at [email protected]. The MAGIC Foundation has so much to offer both children and adults, and Im ex-cited to see where this next part of the journey takes all of us. If you have questions or concerns, please dont hesitate to contact MAGIC. Were here to help and support you in this journey!

MAGIC Convention 2015

The programs are online and there is so much avail-able to our families. This is the most comprehensive program ever put together for the HPP population. Im very proud and excited to be a part of a program like this, and so grateful to the MAGIC Found tion for their continued support of HPP and its families. There is no other organization like it and with their wonder-ful programs and resources, we hope to be able to an-swer some of the questions you might have and put you on the best path for you and your family.

On the program will be an update on the status of HPP by Dr. Michael Whyte, dental aspects in HPP, free dental screenings, pain management options, ADA/IDEA 504 planning, HPP in emergencies, working with providers and expectations, sleep issues in en-docrine disorders, a teen gathering, moms mix and

mingle, professional child day care, field trips for kids, and vendor booths and good-ies including a booth by Alexion. The convention is 4 days packed full of education, networking, and FUN! You cant miss the opportunity to meet with others and learn from some of the experts in the field. I do hope you will consider joining us! And please tell your friends and others you network with HPP wed love to reach out to them! Scholarships have been plenti-ful for HPP. Contact MAGIC if you would like to attend but cannot afford it.

Andrea Steward Story

My husband and I have two children.Our oldest son, who is now five, was diagnosed with Odontohypo-phosphatasia when he turned two. It all began when he started having problems after a large mass was found in his neck. A cat scan was inconclusive, how-ever, the doctor said it needed to be removed imme-diately. We were devastated when the doctor asked if there was any family history of leukemia because that is what my father passed away from.However, blood work was found to be inconsistent for leukemia or in-fection. Thankfully, the mass was not cancerous and we could move on....... Until my son began to lose his front teeth prematurely. This left us with more ques-tions as to what is going on now? And is this related?

I have been a Registered Dental Assistant for ten years. I worked in private practice for five years and am currently working for a maximum security prison in California on inmates for the past six and a half years. Although my schooling and training is a bit distanced from childrens dentition, I knew my child should not shed teeth as early as two years old. So I began asking questions. I found people saying, Oh, he must have bumped himself., or Oh, he was hit by something. Well, as any mother would know, there would be a fat lip, or bleeding involved if any such trauma had occurred. I found a Pediatric Specialist in UCSF that was interested in my sons xrays of his teeth. He spoke of floating teeth that could be a sign


of Leukemia as well.There I was again with another specialist saying the L word. I thought this could not be happening. His xrays showed bone loss, and larger pulp chambers of baby teeth. There was an inaccurate reading of previous blood work for Al-kaline Phosphatase levels because his age had not been taken into consideration. However, a diagnosis paired with his most recent blood work found that he in fact had Odontohypophosphatasia.My son fi-nally had a diagnosis. And further investigation with my husbands family revealed his brother had the childs form of Hypophosphatasia, so now we had a connection. I was over the moon to have an answer, and it did not involve an expiration date on our sons life.We are currently dealing with dental problems that involve several teeth lost prematurely, dental caries and infections.

We have our answers and can adjust accordingly. Our son is doing great. He is very smart, and loving; my most prized accomplishment. My little guy will do great things in life, and nothing will stop him from his dreams!

Carla Kornegays Story- I am 48 years old. I have in-fantile Hyphophosphatasia. I was born 4 weeks pre-mature. I was not your typical healthy baby.I was in and out of the hospital with respiratory type illnesses until the age of 13. It seemed to pass upon puberty. I remained relatively healthy until 3 years ago. I have always had dental problems. I remember as a child I never seemed to have teeth when all the other chil-dren had teeth. I was always at the dentist. I always wanted the pretty teeth. The dentists told my mother my brown type teeth were due to all the antibiotics such as tetracycline that I had had as a child. It was very very hard as a child to be this way. I experienced lots of abscess problems etc.

During my young adult years I was hospitalized for abscesses in severity. This led to my upper dentures. I had 13 teeth pulled at one time - awake! I never knew this was part of my disease. During one of my hospitalizations as a child, my mother was told I had

a calcification build up on the center of my brain! What? As a child I had no idea what that meant. My mother always embarrassed me and always told teachers, etc. I was to be careful and not take a blow to the head.I know kids, they always get konked on the head.

I have a daughter, and twin sons.During their preg-nancies I had lots of energy.I sure wish I had a little of it now!It seemed I had lots of energy while preg-nant. I also had premature delivery of my twins.This is not uncommon for multiple births, however. I had a normal life up until approximately four years ago. Iwould do normal things and I kept having shoulder issues. I would help drive our mules for training. We experienced a run away and I pulled too much on the reins and I tore my rotator cuff.I had surgery to repair it. Nothing abnormal. I kept having problems with the shoulder and had to go in to get scar tis-sue, etc. cleaned up. I thought, Well this is the end of it. Not!I had numerous injections, all the normal or abnormal things. I had to go back in and have a total shoulder replacement. OK, now this must fix it. Wrong again.

By this time I had my first foot fracture. This too was just a freak accident of turning my foot to the side.This fracture was slow to heal. I would almost get a fracture healed and I would have a stress frac-ture of the other foot, then the other foot, and on and on. During a three year period, I had 23 foot frac-tures. I also had a foot surgery to fix things. Back to the shoulder - the doctor wanted to fix the prosthet-ic shoulder that somehow wasnt working.The bone in the glenoid had turned somehow. I was referred to a specialist and he wanted to fix it three years ago. But, with a hard cast and a continual boot cast, I was running out of limbs, LOL. I have yet to have this fixed. I was told to quit working numerous times. I was referred to a Rheumatologist, actually a whole list of -ologists. I finally had a doctor think that by my condition and tests that I fit the Wikipedia ver-sion of Hypophosphatasia.It took 6 months to get in to a genetic doctor. I was diagnosed as having the infantile version of this.


So, this was it: Premature birth, weak teeth, no teeth, shoulder issues, multiple foot fractures. Now, I have pro-gressed to the whole skeletal system. Every joint stays inflamed and I stay in pain 24/7.I have osteoarthritis as well as bone spurs, etc. I am on pain management for this and everything else. I have been blessed to have found people that also have the same symptoms and disease as I do because you do need someone for some answers. If I could be an encouragement to at least some with my information, then I have done my part.

Final Thought

I love inspirational quotes and stories. There is a resource called The Mighty which posts inspiration from many sources which can encourage you when you might be struggling through the maze of doctors, appointments, and just life in general with kids with special needs of all sorts. Check out The Mighty at http://themighty.com

And here is a short quote from The Mighty website:

Parenting for special needs and typical kids is like a tightrope walk without a net. The only difference is that special needs parents know exactly how close the ground is. That perspective helps us appreciate every-thing so much more. Amy Kenny

See you at the convention!

New MAGIC Website Coming!

We are redesigning our website so that our information can be shared and viewed across multiple devices and platforms. Above is only a sample screen shot. Watch for the new site in the coming months.


Central Precocious Puberty (CPP) Division NewsGreetings!

My name is Sonya McTillman and I am so ex-cited to be your new Division Consultant for Central Precocious Puberty (CPP). Like most of you I am looking forward to summer-great food, fun times with family and trips to the beach! This summer I can add our national conference to the things I am eagerly antici-pating. I hope to see you there in July!

Sydneys Story

Central Precocious WHAT! That was my reply four years when my daugh-ter Sydney was diagnosed. I still can recall my disbelief when the endocrinologist said those words. Central Precocious Puberty (CPP) or Precocious Puberty (PP) as it is sometimes called, is a condition that affects approxi-mately 1 in 5,000 to 10,000 children. I soon learned that PP symptoms include all of the normal signs of puberty. However, with PP those typical signs appear well in advance of the typical pre-teen years. Although children are maturing at a faster rate than in previous generations, PP is even a step beyond the trend we have seen in recent years. PP is de-fined as the onset of puberty prior to the age of eight in girls and prior to the age of nine in boys. PP even sometimes occurs in children younger than two years of age.

My daughter was three when I first noticed changes in her physical development that were abnormal for her age. After bringing my concerns to her pediatrician, he consulted with an endocrinologist. The endocrinologist recommended that we monitor her growth over the next six to twelve months and make note of any changes that were not develop-mentally in line with her age. By this time Sydney was about four and-a-half years old and the tallest person in her pre-kindergar-ten class.

All of her symptoms escalated: she had an in-crease in pre-teen body hair, extreme moodi-ness, adolescent body odor, and advanced physical developments all seemed to be oc-curring at the speed of light. These changes got us a referral to a pediatric endocrinologist and the diagnosis process began.

For the majority of children with PP there is no known cause. There are some cases how-ever, in which the child might have a brain tumor that is stimulating the pituitary gland. Hence the reason an MRI is one of the screen-ing tests if a child is suspected of having PP. Along with the MRI, Sydney had blood work done to determine her levels of estrogen and other hormones related to puberty. In addi-tion, she had a bone age test and a test we PP parents call the stim test. She did not have a brain tumor but all of Sydneys screening tests confirmed that she indeed had PP and so our journey began.


There are two main types of treatment for PP-monthly injections or an implant that is placed in the upper arm. Both treatments con-tain medications that allow for puberty to be placed on hold until an age appropriate time. After getting a second opinion at Duke Univer-sity, I decided that the implant was the best option for Sydney. In addition to the obvious physical changes in appearance, children with PP can be impacted emotionally as well. If PP is untreated there can be long term health prob-lems and children are less likely to reach their adult height.

My Sydney is a left-handed, creative, out spo-ken, dancer. She has a kind soul and she plans one day to have a line of fashion clothing. She will have her fourth Supprellin implant this summer and will continue treatment for two more years. At times it is challenging to help others understand all that is Sydney.

At the beginning of each school year I have a conference with her teacher and the school nurse to explain PP and to review her 504 plan. This plan outlines accommodations like a quiet place to calm down if she needs an emotional break or the ability to make up work due to doctor appointments. Parenting a child with PP is never boring! I so appreciate the support I find in sharing this journey with the other Magic Foundation parents who are part of our PP Facebook Page. If you are a parent of a child with PP please consider joining our commu-nity!

Together we are strong. Together we are MAGIC! There are many people who volunteer for MAGIC everyday. They selflessly devote time and energy to make sure that families in crisis get help. If you or someone you know would like to volunteer for MAGICFoundation, please email us at:

[email protected]


Panhypopituitarism (PAN) Division News

My pregnancy with Eilidh (Eye-lee) was classic in the beginning. At our 18 week ultrasound, we found out we were expecting a girl (something I was already sure of ). Within a week of that ultrasound, I received a call telling us that they thought our baby girl had Echogenic Bowel. We were referred to a geneticist and scheduled to have a higher level ultrasound pre-formed. The sonographer looked at Eilidh, assured us that she was female, and said we had absolutely nothing to worry about. There was no Echogenic Bowel. Whew! Dodged a bullet there, right! At around 30 weeks pregnant, I started to bleed a tiny bit. My blood type is Rh(-) and I had never gotten Rhogam with my first child, so I was instructed to rest and got 2 doses of Rhogam. Other than those two small is-sues, my pregnancy went well.

Anytime weve seen a new medical professional, Im asked if Eilidh was premature. This was especially true in the first two years of her life since she was in the 0-2nd percentile for height and weight. I usually chuckle, because in reality, I would probably still be pregnant with Eilidh if shed had her choice! At 42 weeks, on a Tuesday afternoon, she finally graced us with her presence. It was September 14th and Eilidh was born peacefully at home with the assistance of a midwife. Her big brother slept through the entire (3 hours) labor and was pleasantly surprised to have a sister when he finished his nap.

In the beginning, we had no reasons to think there was anything amiss. She was over 7 pounds and cute as a ladybugs ear. She didnt have much interest in sucking, but my lactation consultant assured me that this was completely normal for some babies.

We rested all afternoon

and evening and I tried diligently to get her to suck. I pumped colostrum and dripped it into her mouth just waiting for her to have an interest in nursing. I completely credit having Eilidh at home with the rea-son she is alive today. It was 4am and I was holding her, steadily dripping colostrum into her sweet little mouth. My parents were sleeping in the living room, my three year old was sound asleep in his room, and my husband was snoring softly next to us. Eilidhs lips puckered as if she was sucking on a lemon and she stopped breathing.

My educational background is in family and child development. I have taken child and adult CPR for health professionals more times than I can count. However, when my brand new baby stopped breath-ing at 12 hours old, I needed the 911 operator to say Have you started CPR? for me to move on life saving protocol. Maybe it was new mom hormones or ex-haustion from labor and no sleep, but Im so incred-ibly thankful for her asking that simple question.

Our house was less than 1 mile from a fire station. It was raining that September night. When EMS re-ceives a call that a baby has stopped breathing, it doesnt matter who you are, they call in the cavalry. Within 3 minutes of us getting on the phone with the dispatcher, Eilidh started to breathe again (Thank you, Jesus!) and there were 15 very large men sur-rounding my baby while I sat next to her on the floor in my husbands old tshirt and Depends. The chief of police, every available EMS member, 3 fire trucks and 2 ambulances were at our house. They checked her vitals and hooked her up to oxygen. She was stable.

Because she was stable, we had options. We were able to make the 30 minute trip into Dallas to Medi-cal City as opposed to a smaller community hospital on the east side of Dallas. When we arrived at Medical City, they took Eilidh and began running tests. They also wanted to get lines into her umbilical stump and that required a bit of work that Craig and I could not be right with her for. During this procedure, her

Janet Meehan Consultant for PAN and Mom to Shea(PAN)

Hard to believe that summer is upon us. It seems like I put these newsletters together every 2 weeks, rather than every 3 months. Time flies. Its almost time for the annual convention in Chicago and I hope youre coming! It promises to be a really good one this year, maybe the best ever, and I dont say that lightly.

This quarter we have a wonderful personal story from Amory, mom to Eilidh. I hope you enjoy reading it. Remember that we are always looking for in depth personal sto-ries. They are such an inspiration to us all.


breathing became unstable and she was intubated. Preliminary labs came back and her glucose was 1. While this was very shocking to everyone, the not breathing factor outweighed her measly glucose num-bers and the attending that night had probably never dealt with a kiddo quite like Eilidh. Hindsight, right?

Over the next several days she was intubated, not intubated, on scheduled IV feeds, on continuous feeds, testing this and testing that. Inborn Error of Metabolism was thrown around. I had to Google that. Sheesh! Test after test and still nothing. Her acid levels were high, but she was breathing over the vent and brain activity and echo were all normal. The MRI and EEG were both normal. Newborn screen-ing blood test was also normal. Glucose levels were still wonky at times, but nothing like on admission.

On day 5, additional blood testing showed low thyroid enzymes. They started her on synthroid immediately and said this could be the cause for all of the issues. Later in that same day, the IVs in her arms were infil-trated. The neonatologist on the day shift thought this would be a good time to try to come off of continu-ous IV feeds since despite their efforts they were not able to immediately replace those IVs. The plan was to check glucose every three hours before starting a new feed. Just before I was getting ready to go home for the night, the nurse checked her glucose and it was 48. The neonatologist was on point. He immediately started barking orders at the nurse to draw labs for glucose, cortisol, insulin, and growth hormone. He as-sured me that they would keep her glucose up via NG tube through the night and if that became problem-atic, they would do a surgical line for an IV. He told me that he thought she may have a central hormone is-sue. They would get the necessary labs and we could consult with endocrine the next day. He affirmed that the hormone issue would be manageable but lifelong. On that note, I went home terrified and hopeful with nothing concrete to Google.

Day 6. The blood work showed deficits in cortisol at 0 and Thyroid Stimulating Hormone (TSH) was 4. The endocrinologist came and gave me a down and dirty endocrine anatomy and physiology lesson explaining that this tiny little Master Gland was causing all of our issues. Eilidhs official diagnosis was congenital Panhy-popituitarism. Say WHAT? Panhypopituitarism (PHP), for Eilidh, includes growth hormone deficiency, hy-pothyroidism, and adrenal insufficiency. An ophthal-mologist was also brought in to determine if her optic nerves were properly formed and if she had any vision impairments, which can be a part of PHP. Thankfully, she passed that test with flying colors.

We spent another 21 days in the NICU. It took her sev-eral more days to catch on to feeding orally. On Octo-ber 11th, we went home. Eilidh was the happiest baby you could ever meet. As she grew, however, there were several bumps in the road. She would have 3-4 epi-sodes a week of being awake for 4 hours in the middle of the night. This continued until she was almost 3. She didnt begin walking until she was 23 months old. She has low muscle tone around and in her mouth and in her core. When she was 2, she began having severe vomiting episodes. We were hospitalized several times for this. Test after test by allergy and gastroenterolo-gists came up empty. Her steroids were increased due to the almost daily vomiting and she began to gain excess weight. Her doctors were concerned about the weight gain and put her on a strict low carb 800 calo-rie/day diet. We cut all processed carbs. Within 2 days, she lost 2 inches around her waist and the gagging and vomiting stopped. We were told that she must be unable to process something that is in processed car-bohydrates. It could be baking soda or baking powder or an unnamed ingredient that is added. Whatever it is, as long as she doesnt get any processed carbs, shes good.

Eilidhs speech is delayed. She tests around the level of a 2 year old at 4.5 years. She has fine and gross motor delays and benefits greatly from the help of a private Occupational Therapist and a Speech Therapist. She also attends our local elementary school for 4 hours a day/5 days a week for Preschool Program for Children with Disabilities (PPCD.) She gets speech therapy there and will be receiving occupational therapy soon. In February of 2014, Eilidh had her first seizure. She was diagnosed with epilepsy after an EEG and continues to take antiepileptic medications in addition to her hormone replacements. At this time, the epilepsy has not affected her Panhypopituitarism. We monitor her closely. We are currently fundraising to get a service dog for Eilidh. The dog will be trained to detect low glucose levels (a symptom of Adrenal Insufficiency) and will also provide companionship for Eilidh during high stress times and seizures. You can visit our web-site at www.aservicedogforeilidh.com

We are so grateful to the Magic Foundation for provid-ing a support system for parents with of children with Panhypopituitarism. Eilidh was about 6 months old when I came across the Facebook group and joined a family of parents, of whom many have become life-long friends. Eilidh continues to keep us on our toes and requires constant out of the box thinking. She is a bright light in our lives and brings joy to anyone she meets. I used to joke that while pregnant, I had prayed and prayed for a baby with blue eyes. When she was born with blue eyes and no pituitary gland, I quickly offered to take another color eyes just to have that functioning pituitary. Her eyes are now green and ha-zel and we still dont have a pituitary gland, but weve gained so much more in the lives and loves that we have encountered over the course of this journey with our girl. While we may not know what the future holds for Eilidh, we know that it will all work out for the good.


Small for Gestational Age (SGA) Division News

Megan Donnell Consultant for SGA and Mom to Emerence (SGA)

Hello SGA Families! It has been a year since I began working as the SGA Division Con-sultant so as they say, time flies when you are having fun! We are FINALLY getting a bit of spring here in Massachusetts as the last snow from the most terrible, horrible winter actually only melted about 2 weeks ago! I love reading the newsletter stories as they come in though it is really hard not to share with others so that they have the sus-pense of waiting for the newsletter and reading the Family Story! Our facebook group has grown so very much this past year and we are actually helping out Facebook pages for SGA in the Nordic Countries, New Zealand and Australia!! Want to see your Family Story in a newsletter? Just email me at [email protected]!

Alisas Story

Addison is my first baby and thus, my first pregnancy. I had a typical and normal pregnancy until I took my glucose test at 28 weeks. I was diagnosed with mild gestational diabetes and warned that if my sugars were out of control, my baby would be too big and that she and I would have complications at delivery. Over the rest of my pregnancy, I received frequent ultrasounds. The peri-natalogist was always so sur-prised that I had GD because she was always mea-suring small. I asked if there was concern about her being so small and I got told, No, youre small, she should be too. Little did I know that that phrase would follow us and ultimately be problematic.

Addison was born at 40 weeks and 6 days and was 6lbs even and 18 inches long. I was told that she was perfectly petite and never heard the words small for gestational age. We were just told that she was a peanut. Almost immediately we began having gas-tro issues. She would throw up almost every feed she had. She cried daily and never slept and was al-ready showing signs of constipation. After a month of this our pediatrician had us use soy formula and she immediately stopped crying and vomiting after each feed, reflux spit up continued. The change in formula did not help her constipation and it contin-ued to be an issue. We were told to give her some Caro syrup in her bottle, which didnt help. Addison never seemed to progress to larger bottles like other babies. When my friends would feed their children who were younger than her 8 ounce bottles, I always cheered when she finished a 4 ounce one. I felt that there was more to this, but my pediatrician kept tell-ing me that she was fine.

Addison was on the chart (around the 3%) during her infancy, but fell below the chart at 12 months. She never returned to the chart and continued to hover a safe distance below that first line. Despite being a healthy weight at birth, as she grew, she always had a low weight for height proportion. Around age 3, I insisted on allergy testing because I was convinced it was an allergy that was causing her gastro issues. All tests came back normal and she was negative for

Celiac. Still, she continued to have bathroom issues which made potty training very difficult and she con-tinued to have poor growth. My pediatrician refused to say anything other than short parents, short kids. I knew differently. Addison wasnt just short, she was all around small. He body just seemed so tiny. She fell frequently, seemingly over air, and always had bruises, yet her blood results were always fine. When Addison got stomach viruses, they were never the 24-48 hours that others experienced. For her, they became week long affairs. What always seemed in-teresting to me was that she NEVER got the diarrhea part of any stomach bug. Our Dr. would always warn us that it was to come, but it never happened.

When my third child was born, we switched pedia-tricians and I mentioned her stature and body size. They agreed it was a concern and wanted to watch it. When she grew only 1 inch between age 7 and 8, they referred us to a Pediatric Endocrinologist. At that same 8 year old well visit, they found some signs of Premature Adrenarche. So, it was a double refer-ral. We went to see the Endo. He did full measure-ments and bloodwork. Her IGF-1 levels were in the normal range, so he referred us back in 6 months. At the six month re-check, she had barely grown, and she now was showing signs of Central Precocious Pu-berty, so we were sent for a bone age test and more blood work. The Bone Age test came back more than 2 years advanced and the bloodwork showed elevat-ed pubertal hormones.


Our Endo explained to us that children who are SGA without catch up tend to have a collection of char-acteristics that makes SGA syndrome like. When he listed the main characteristics, we realized that Addi-son had almost all of them. She had low birth length, feeding issues, low gastric motility, ADD and now, Central Precocious Puberty.

The recommended treatment was to begin Growth Hormones Injections as well as Lupron injections. But first.MRI. To our shock, the MRI came back showing that Addison also had Arnold Chiari Malfor-mation, a herniation of her cerebellum outside of the skull. In order to begin Growth Hormones, we had to be cleared by a neurosurgeon. We were able to get seen immediately and he cleared us. After NO issues from the insurance, we were ready to begin.

Since beginning treatments, it has become so obvious that Addison really needed the treatments. Not only has she grown more than three inches in 10 months, her entire body has changed. She no longer trips over air, she rarely falls down, her entire body is stronger and she has increased stamina. I recently saw a picture of her and four friends in a row from three years ago. She was so tiny, not just shorter, but all around tiny in compari-son. While she is still smaller than most kids her age, it is a different type of smaller than before.

I certainly didnt want to have my baby go through all of these treatments and tests, but I do find some validation in the fact that I always knew something wasnt right. Her GI issues arent behavioral as sug-gested by so many GI doctors, but a direct result of a delayed emptying. She wasnt just destined to be short as my initial pediatrician suggested, she had a true growth disorder. My only wish in all of this is that I had stood up or switched pediatricians earlier so that we could have started treating her sooner.

Addison will be ten next month! She is in two sepa-rate programs for the gifted. She plays the flute, has friends and will be going to sleep away camp for the first time for two whole weeks! She is a joy to par-ent and has a heart of gold. Her medical issues are just one small part of who she is. She and I are both so thankful to MAGIC for not only providing excel-lent medical advice, but for providing moral support in the form of FaceBook groups. I never thought I would need to be in one medical support group, let alone two. But I am so thankful to see other kids like her out there and to see how well they are doing!

Watch for MAGICs Speakers Bureau In 2015 MAGIC will begin the implementation of our Speakers Bureau. Planned programs be-ing set up include presentations to state wide local school nurse programs and more. We feel it is important to have the representation of lo-cal families. Watch for more details and emails. If you are interested in learning more about this program, you can email Mary Andrews at [email protected]

Training programs will be provided as well. We anticipate beginning the entire process in the spring of 2015.


Optic Nerve Hypoplasia & Septo Optic Dysplasia (ONH/SOD) Division News

Martha J. MichalsConsultant for ONH/SOD and Mom to Kris

Summer is here! Plans are set and we are ready for The MAGIC Foundations 21st An-nual Convention in July! Please make sure you register now!! We will have special social opportunities to meet together and get to know other ONH/SOD parents at this years convention! We have a great line up of speakers and we are looking forward to meeting old friends and making new friends when we gather and share our common ground as parents and caregivers of ONH/SOD children. Our ONH/SOD Facebook continues grow and be a very active supportive learning experience for our members. Our page pro-vides a continuing and interactive experience focusing on emotional and educational support for parents and caregivers. I am thankful every day we are able to connect and learn from one another on Facebook! We all look forward to having an even greater op-portunity July 9-12 to meet and connect, support and learn at The MAGIC Foundations Annual Convention in Lombard, IL! See you there!

Veronicas Story

Hello, my name is Veronica and I am a 28 year old with Bilateral Optic-Nerve Hypoplasia/Septo-Optic Dyspla-sia. I am sharing my story in the hopes of helping oth-ers effected by ONH/SOD as well as to give a voice to the experience of living with it into adulthood. I was born to a young mother, like many of my fel-low ONH/SOD-ers, who was only 19 at the time. Doc-tors could tell that my left optic nerve was grey and small when it should be pink and suggested that the stronger eye was covered, which I would absolutely not comply with as they didnt realize that my right eye was legally blind as well with 10-15% of my field and extreme nearsightedness. The doctors couldnt tell me or my family much. I had a Marcus Gunn pupil with bilateral small nerves and small differences in my MRI along with a laundry list of symptoms widespread throughout my body and my doctor only felt that I needed vision correction. They just didnt know what my eyes should have alerted them to.

When I became an adult, I started to search for answers to my symptoms. Prior to adulthood, I was unable to seek health care due to my familys impoverished posi-tion. The trappings of being homeless and poor made seeking answers more difficult as an adult. I suffered great discrimination from doctors who couldnt be-lieve that I was only getting help in my twenties when I said the symptoms had been with me as long as I remembered. I couldnt believe how hard it was to get a supportive healthcare provider. From the time I was born and even today, doctors have not been educat-ed regarding ONH/SOD at all. Many of the symptoms that I struggled with were common in those with the disorder but I had to fight for them to be recognized at all. This was made more difficult by the fact that I was homeless for many years in elementary school

and did not see a regular doctor. Unfortunately, cir-cumstances like these made it more difficult for doc-tors to take my symptoms seriously. Apparently, not receiving assistance worked against me even though I thought it made me stronger. It was a shock that I had gone through so much, including managing school and life without visual assistance until I was 15 and having hormonal imbalances that caused emotional and physical frustrations, and I still had to fight for rec-ognition of things that were clear in modern medical research on the condition. The search was hard and shows just how much education still needs to be done to help the public. I am also of the opinion that if more information was received from adults with the condi-tion, we would find out that widespread abnormali-ties are common and have great influence on sensory perception including the whole nervous system and behavior.

I have had chronic pain issues from my earliest child-hood memories to now, nerve issues, seizure issues, fatigue, hormone imbalances that resulted in endo-metriosis necessitating a full hysterectomy and oo-phorectomy at the age of twenty-four, hashimotoss disease and Ehlers-Danlos Type II. I am now on hor-mone replacement therapy and levothyroxine and will likely be on them the remainder of my life. I am a very slight person, definitely the runt of the litter making me wonder if I was in need of supplements as a child. However, I recognize that my body processes information differently than others. This helps me live day to day at a happier and more comfortable level. My nervous system seems to be more in tune to my internal processes and the environment around me. Medicines also seem to effect me differently, almost at a metabolic level. Things are different but I acknowl-edge it and try to learn how to adapt. Obviously, I am speaking from personal experience as I am not


a health professional. These adaptions end up seem-ing to work in my advantage, despite being hard work. This is something that I believe is common in us ONH/SOD-ers. In fact, ONH/SODers may have abil-ities that others do not. Have you ever noticed the agitation and sensitivies to environment that seems to affect us? I have noticed with myself and with oth-ers that I have encountered that we seem to interpret messages differently. We can feel things on a more detailed level and can become overwhelmed easily. I have found that for myself, paying attention to stim-uli has greatly helped. Massages and aromatherapy work wonderfully to help modify situations. It can be a handicap. It can also give me tools that not every-one has. I can tune into myself on a deeper level and can often get myself off of a negative path quickly before I have had to suffer any negative consequenc-es. Pay attention to your ONH/SODers. Their agitation may key you into something larger.

What really has had an emotional tug, though, is the way in which people like myself are treated in social situations and the need for them to be treated as nor-mal as possible as well as the fight to get adequate health care. Social interactions have always been hard for me. If you have ever had any issues with your eyes, you know that people do not know how to re-act to a person with things like having a crossed-eye. My left eye turned in and so I was self-conscious and it was made worse by the almost constant awkward interactions with others. In fact, it seems as though others have an expectation of stupidity of those with obvious eye issues. This is something that we cannot realistically change and so giving your little ONH/SOD-er self respect and confidence is of the up-most importance. They will be bullied. They will be faced with discrimination. They will still be strong.

Despite the discrimination that I have faced with the condition, I have overcome all obstacles set before me. I was able to succeed in my academic and pro-fessional life do to the tools my mother allowed me to develop as a child, namely knowing that I can ac-complish things on my own and do not need to en-vision myself with any handicaps. She never treated me different than others. I was not given more time to complete activities and was always given the same expectations of those around me. I have strong feel-ings that this is a requirement for all children with ONH/SOD. Do not feel bad for them and do not treat them different and they will be strong.

Well, writing this turned out to be more difficult than I expected. It is hard to share the type of infor-mation that is held as private, the type that played a part in making you who you are. I feel as though I am babbling incoherently and reviewing my writing just brings out those feelings even farther. I should end by letting you know that no matter ONH/SOD brings with it, nothing is out of reach for our ONH/SOD babies. If we listen to them, support them and treat them the same as everyone else, they will have the strength to reach for their dreams. Despite the challenges, I am grateful to be able to reach for my dreams, which are firmly in place as I sit here in a Col-orado Mountain hotel preparing for law school in the fall with my husband and two kids. I couldnt want anything more.

DID YOU KNOW?

If you donate through the United Way, you can help MAGIC! We do not have a Unit-ed Way number, but you can fill in The MAGIC Foundation with our address (6645 W. North Avenue Oak Park, Illinois 60302) on your form.

Combined Federal Campaigns Our number is #10388. Your support really helps! Each time you contribute, you are ensuring that The MAGIC Foundation will be there for children and their families.


DonationsHONORARY DONATIONS Donations made in honor of someone special or for an important event in your life. Notices are sent to those who receive these donations but the amounts are kept confidential. Thank you for putting your gift to work for MAGIC Children.

In honor of Reese Boyles birthday from:

Michael & Mary Beth Casement

In honor of Caley Phams birthday from:

Shimatzki Family

In honor of Eilidh Stephenson, PAN/Tumor

from:

Teachers at her School, Callison Elementary

School

MEMORIAL DONATIONSFrom out of the darkness of sorrow comes amazing compassion. We are sorry for your loss and humbled by your gifts to MAGIC during your time of loss. In memory of Philip Shapleigh from:Ann Marie Grace In honor of Dr. Robert Stanton for caring as-sistance to patients with FD/MAS from:Fred, Cindi and Carly Levin In memory of Donovan Jacob ONeil from:Elaine HarmonEric Landry In memory of Troy Felleum from:Maloy & Rodney Van Faussien & Family

In memory of Dorothy Bertram from:Maxine BertramWilliam C. White IIIC. Donald & Shirley WellsRebecca G. ThomasBarry & Susan CordrayEdward & Sharon Delaney In memory of Thomas Schilling from:Ken & Teresa Dickard In memory of Linda, Dale Murphys sister from:Ken & Teresa Dickard In memory of Bruce Wolff from:Ken & Teresa Dickard In memory of Evelyn Clark from:Ken & Teresa Dickard In memory of Charles Buttiglieri from:Ken & Teresa Dickard

OTHER DONATIONS

Blue Jean Fundraiser from:Employees of the American Medical Associa-tion (AMA)

Share Your Story with MAGIC

MAGIC Families all have such incredible stories, some of triumph and others that are heart-breaking. If you have a story that you would like to submit your story for the MAGIC Newsletter, please email it to us at:

[email protected].

We receive many stories and cant promise that it will be published, but we do our best to share as many personal stories as possible.

Please include high-resolution pictures with your submission, and be sure that you have per-mission from anyone in the pictures to publish their image in the newsletter.


Donations and Fundraising News

FUNDRAISING NEWS

Emma Buckley was at it again! She participated in a Mud Run and raised nearly $2,000.00 for MAGICI!!! Way to go Emma, you are the greatest!


Growth Hormone Deficiency (GHD) Division News

Teresa TuckerMAGIC Foundation Co-Founder and Mom to Stephen

Tobys Story

Be careful around the baby..... My husband and I heard these words all the time. No - they werent talking about our 5 month old daughter, they were talking about Toby, our almost 2 year old son as hes running around a play-yard with other kids his age. Once, I even felt the cold stare from another mom, as if she was reprimanding me for letting such a little baby play with the big kids. I could hear her think-ing - Its not my kids fault if HE gets hurt. I try not to take these nonverbal cues too personally. They dont know how old he is, and from the looks of it, Toby looks like your typical almost 1 year old. He tries so hard to keep up, and climb the same obstacles, only to be met with the dust left behind from the older kids. This makes me determined. When Toby is old enough to understand - He will NOT be afraid to keep going. I will NOT let him think he is any differ-ent. He will know he is loved UNCONDITIONALLY by his family, despite any nonverbal (or verbal) signs he receives from others. He will forever be raised that it is the size of your heart and not the size of your body that matters.

Toby was 5 lbs 9 oz when he was born on April 10th, 2012. Tiny by newborn standards, but not too small to need assistance; he was born considered full term, at 37.5 weeks. He had no health issues. I remember in the hospital trying to get him to eat and he couldnt have been less interested. Wait, what? No book I read prepared me for an infant who didnt want to eat? Did I skip a chapter? The doctors almost wouldnt let him leave with me because he wouldnt finish 1 ounce. It was only after I begged, and Toby was force fed 29 mls (1 ml away), did they allow him to come home on day 5. Despite the early problems, his pe-diatrician wasnt that concerned, and assumed that when Toby got home and relaxed a bit, he would get into the groove of things. When he left the hospital he weighed 5.2 lbs.

Having been a first time mom, I had no clue what I was do-ing. No clue what to expect, and every reason to freak out about everything. He hadnt gained much his first check up, but he had gained, and that was what was important. He continued to gain VERY slowly, but steadily, making his own curve in the 4th percentile. At his 6 month visit, T weighed 13 lbs, and the doctor started asking questions. Toby had gained each checkup, but this time, it was mi-nuscule. After we talked for a while, he reassured me that once Toby started eating more solid foods, his diet would round out and take on a more normal structure. Babies can be tiny, that is not a problem. Every child eats at their own pace; As long as they maintain a curve, even if its their own curve and not in the standards, thats whats most important. Over the next 3 months, Toby gained 1 lb. And thats when he took the plummet, (Picture Thelma and Louise style) off the curve. I remember at that appointment, asking for more time before we did testing. Even though I knew he wasnt normal, I wasnt ready to accept the fact that something could be medically wrong with him. The testing and the bloodwork started. Cystic Fibrosis and additional blood work came back normal so the wait began. For more signs of something, for not so good well checks, for something to happen to lead us down a new path. And eventually, it did. He just stopped growing altogether.

Toby remained the same weight and height 18 lbs/ 9 month clothes from the age of 15 months to 23 months. At the age of 15 months, his first Endoscopy was performed. This is when a small camera is insert-ed through the mouth and they look at the upper digestive track. They were looking for signs of reflux, or an allergic disorder like Celiac Disease or EEG. They obtained additional blood work for evaluation. When the results came in, they were both good and bad at the same time. Nothing. Nada. Zilch. Nothing to point them in any direction what-so-ever. Every-thing was fine. I guess Im supposed to be happy to hear this, right? It was decided that perhaps this was a behavioral issue which needed to be addressed with Diet and Speech Therapy. At this point, it was all we had to go on, and I was all too happy to oblige. I will try anything to get this kid to eat. After many visits nothing changes.


This newsletter has been provided as a courtesy of The MAGIC Foundation. It is for informational purposes only. The MAGIC Foundation does not assume any liability for its content or decisions made on the basis of these materials. Always, con-sult your physician for diagnosis and treatment options.

We are referred from specialist to specialist. Each meeting starts with the same questions, and we can tell when they walk into the room already deducting whats wrong with him. I can see their thoughts - Ah, Ive seen cases like this before; its just going to be ..... *insert some random illness here*. Its only when our interview ensues and Mom and Dad dont answer the questions the way they thought we would, do you see an eyebrow go up. You hear a sigh, or see a scratch of the head. Its something Ive said, isnt it. Something I just said made you change your mind about his diag-nosis completely. Were shuffled off to get stuck again, and the sweet child life workers try their best to calm his fear by shaking glow sticks, and tinker toys, and IPAD games in his face. It doesnt work. He knows by now whats happening. He gives me that look that is all too familiar, and by now I really feel he understands my gaze back. Just be strong buddy - it will only be a few minutes - and well be back in the car with blanky. The results come in, we meet again, and the riddle continues. No further in a direction. In the days that have passed, no light bulbs have gone off. Its still complete darkness. A last effort from his GI doctor, another endoscopy, this time with a colonoscopy, was ordered. A routine stool culture showed signs of in-flammation. Prep for the surgery involved fasting for a whole day - 24 hours. In a shocking turn of events, our lives were almost turned upside down.

In the same day surgery room, Tobys pale skin looked see through in the bright light. The nurse explained that she was going to take his vitals and asked if I thought Toby was acting normal. NO. He wasnt. Nor-mal would be him crying, kicking and screaming as we walked through the hospital doors. This was not Toby. My son doesnt sleep in my arms while people in scrubs fuss over him. As she talked, I could see his eyes rolling into the back of his head. Something was definitely not right. I gave my husband a worried look, and the nurse ran off to find a kit to check his blood sugar. By this time, the nurse anesthesiologist had come in and was also clicking away at the computer, asking questions. As Nurse A stuck his finger - not a peep was uttered from him. Not even a movement. A

lump formed in my throat. Something is very wrong. Seventeen she said aloud to nurse B, who looked up and asked her to repeat herself like she had heard wrong.

SEVENTEEN - she said again, enunciating each syl-lable to make sure she heard correctly. Thank GOD I didnt know what it should have been, because I would have gone into panic mode. I was told, very promptly, to get Toby on the bed and get him undressed. Scared and shaking, I did as I was told, as my husband looked on from the corner of the room. 4, 5, 6, 7....I stopped counting as scrubs and white coats flooded into our room. Toby was not there. His eyes were rolled into the back of his head. He was breathing but he was not conscious. Two different nurses and 1 doctor each took the limbs that were left looking for a vein to start an IV. I was squeezing his hand with all of my might, rubbing his head, and whispering in his ear that every-thing was going to be fine. I kept glancing back at my husband who had the same cold look as I did. What was going on? Why was this happening? I remember asking the nurse what his blood sugar should be, and she didnt answer me. The feeling of dread grew even more. I looked up to the doorway and there was Nurse C, holding what appeared to be a crash kit. She whis-pered quietly so I wouldnt hear...but I did...Was his sugar really 17?, and the stone cold wide eyes from Nurse D confirmed it.

As Tobys tiny foot was stuck and an IV inserted, he didnt flinch. He made no movement. No squeal of pain. That frightened stare he usually gave me before getting our routine blood draws...what I wouldnt give to see that right now. To see some sign that he was there. The doctor pushed in a syringe full of Glucose, and very slowly, I saw him again in his eyes. The blue shown a little brighter and I could tell he was looking back at me. He still wasnt crying, or saying anything, but he was there. Back again. I looked over to my hus-band with a look that said, things are getting better, and for a brief moment the hopes that he was going to OK overshadowed the terror that had just ensued. He stabilized, and the nurses and doctors went over what just happened. We talked long about how it could have been prevented. My eyes water recalling this moment.

Through all the terror a bright light appeared. It was this incident this horrific moment in time that put the wheels in motion and sent us directly to the right people - Endocrinology.


Over the next months, Toby was admitted multiple times, and a stim test was performed. The results showed Growth Hormone Deficiency; a scared sigh of relief that we finally had an answer, but a reality that something was definitely wrong. We were trained how to give an injection of HGH, and now that we understood and could connect his hypoglycemic episode, we checked his glucose regularly at home. I cringe at the thought of how many times growing we could have contributed his illness to hypoglycemia. All those times he was so sick, we never knew.

Toby has also been diagnosed with Celiac disease an autoimmune reaction to the ingestion of Gluten. Additionally, because of the hypoglycemic episodes, he has damage to his Vagus Nerve causing a condi-tion called Gastroparesis; an illness which causes his stomach to not properly digest food. Because of his additional feeding complications he had a short stint with an NG tube a tube that is inserted in his nostril to allow liquid feeds. This was to ensure he was get-ting enough calories to allow the growth hormone injections to work. Today at almost 3 years old, he maintains a strict gluten free diet, takes 2 meds three times daily to allow his stomach the ability to digest his food, and gets nightly injections of HGH.

We started this treatment, and it was rocky at first, but then slowly, we fell into a routine. My tiny son started growing. For the first time in a year, we saw a change. A change that is so powerfully overwhelm-ing and beautiful. The sense of relief you didnt know you needed. The pounding of worry in your heart you had grown accustoming to feeling every minute, dis-sipating enough to make you realize how harsh that pounding actually grew to. You werent even aware

how all-consuming it was because it was a feeling that you had gotten so used to, you thought it was normal. Even more than his height, his health. The vomiting-every-day, sad, bloodshot, puppy dog blue eyes - wa-tering every night while he looks at me confused and scared. Gone. Pale, see-through skin - soft and cold, now colorful and vibrant. Lifeless, limp limbs trying to struggle through the day because they arent be-ing fueled with enough sugar - Now working, moving, pulling and pushing like a normal 2 year old. Its like weve been huddled into Wonkas elevator, pushed the normal button, and shot right out through the sickness into the way real life is supposed to be.

During our last trip to his endocrinologist, we were in the elevator pushing buttons and being loud, when an employee there asked Toby how old he was. We say 2, and as Im getting ready to go through my standard speech about why hes so small, she just continues to gab with him, asking him about numbers and colors and shapes. Her unemotional response to his age, in that moment, was such a powerful thing. The first time Ive said his age and havent received a look of horror, or a laugh, or a sad pitiful frown. Water stings my eyes. Relief.

What a wonderful moment in time, a feeling I want to freeze and thaw out on bad days. In 10 months, Toby has grown over 10 inches, and gained over 10 pounds. He no longer gets confused for his sisters twin, who is 17 months, his junior. He is, in one word, amazing; and we are so blessed to be part of his journey. You can follow his story at www.tinytoby.blogspot.com.


Thyroid Disorders (THY) Division NewsHi, everyone. Weve just celebrated our baby girls first birthday. I write letters to my children on their birthdays, and I felt this was a great one for sharing. Gabbys one year birthday letter is for the day she leaves home, telling her story and diagnosis from the beginning. It brought me to tears many times thinking about the past year and the worry I felt. If you are just getting this diagnosis or any unexpected diagnosis, I want you to know that it is all going to be okay; your baby is going to live a beautiful life, and we are all here to help along the way. xo

My Dearest Gabby,Today marks one year baby girl.1 year, 12 months, 365 days, 8760 hours, 525,600 minutes, 31,536,000 seconds. No matter how I define it in my mind, it has passed all too quickly. Its like time has cheated us and somehow the world is spinning faster. Like any mama I wish I could relive every precious second of your first year forever.

Those perfect moments every mama knows of rocking and singing you lullabies, being cuddled up when you fall asleep, and not wanting to ever move again. The sound of your baby laughs and softness of your sweet baby kisses are the moments that made the months of 1, 3, & 5 a.m. feedings less exhausting and made every hard day or sleepless night easy.

The day you were born, May 1st of 2014, was the National Day of Prayer. It seemed fitting as I had prayed faithfully for you for years prior to this day. On this day,I would hold you in my arms and I would kiss your perfect face for the first time.

Little did I know the countless nights I would spend praying myself to sleep, pleading with God on your behalf. You would teach me more about faith and trust in Gods plan in one year than I had learned in the 28 years prior.

At 11 days old you were diagnosed with Congenital Hypothyroidism Disease. It is the most common preventable cause of intellectual disability and growth failure. Millions of people live with thyroid issues every day, but for an infant, levels must be

regulated and maintained within the first 30 days to avoid permanent damage.

It took 11 days for the lab in Montgomery to test your PKU newborn screen which would reveal your TSH level off the charts at 409 when it should have been well under 10. They would then contact the Childrens Hospital of Birmingham Endocrinologist who would contact your pediatrician in Tuscaloosa who would make the phone call on a day I will remember for the rest of my life.

We were sitting outside in the late afternoon enjoying the summer sun when the phone rang. The nurse on the other end may as well have been speaking Spanish....T4, TSH, FreeT4. I didnt understand what numbers meant what or what all of this meant for you. We rushed to the hospital for labs as instructed and started medication within hours.

The weeks and months following I would spend countless hours researching every treatment option across the globe. We would meet with your specialist, a pediatric endocrinologist at Childrens Hospital. She learned quickly your mother was a force to be reckoned with as I questioned her about advanced European animal transplant research and the success with thyroid gland stem cell transplants not yet studied in the U.S.

Your daddy was patient and sat quietly at every visit, allowing me let me get the answers I so desperately needed this past year. You have endured more needles in one year than I have in my entire life. You have been brave and strong through it all.


The only comfort I had the day we received your diagnosis was learning that I wasnt crazy. I had cried uncontrollably for 11 days, even to doctors, and I was overwhelmed with frustration for not being able to put into words what my motherly instinct was telling me. My closest friends would tell you I knew something was wrong before you were born. Thinking back over multiple conversations before delivery, I just knew something wasnt right. They did regular stress tests late in pregnancy because I wouldnt feel you move for days at a time. They said you were just a hard sleeper, but I wasnt convinced. Even after delivery, everyone, including doctors, friends, family and even your daddy, thought I was nuts....having postpartum, baby blues, or maybe I had just lost my mind. Im sure I seemed as if I was having a hormonal breakdown. I was written a high dose prescription anxiety & depression medication and told you were fine.

A mothers intuition is a STRONG and REAL thing. They knew you were fine, and I knew something was wrong. I felt the deepest guilt because of this. I would hold you, looking over your perfect beautiful body with tear filled eyes and was forced to believe maybe everyone was right and there was something wrong with me. You were perfect and still are, but your mama could feel something everyone else couldnt.

They fed me pills and I fought an 11 day internal battle knowing with every fiber of my body something wasnt right.....You never cried and when you tried it was like a whisper, hoarse and low. You slept 20+hrs a day, only staying awake for moments at a time. You didnt open her eyes even when taking a bottle; family members joked you were just a sleepy lazy girl, getting your beauty rest. I would call your name countless times and you wouldnt wake. I would walk you in the

sunlight just to see your eyes open for a moment and I carried my phone or camera 24/7 so I could document every moment you opened your beautiful eyes.

Nursing felt impossible; your body didnt allow you to stay awake long enough, so every 30 minutes orso, you would be hungry and then pass out within 2 min-utes. You were losing weight and I was staying awake for days at a time doing everything I could to help you back to birth weight.

The doctors told me you were just a good baby..... She sleeps all day and doesnt cry. Honey, consider your-self lucky. Frustrated isnt the word; Id take the meds to numb the frustration. I dont blame the doctors for thinking I was nuts because these signs and symptoms (cold extremities, hoarse cry, herniated umbilical, leth-argy, low weight, exhaustion, etc) for CH are nearly impossible to detect and piece together with a seem-ingly healthy infant.

I felt like the worst mother in the world when the pedi-atrician tried to give me tips like rubbing a cold wash-cloth across your forehead so you would stay awake to nurse or take a bottle. They strongly encouraged me to feed you as often as possible and said that getting you back to birth weight was their first priority. What did they think mine was? I couldnt remember the last time Id even slept and they made me feel like they were questioning if I was feeding you when thats ALL Id been trying to do for days! I had even started pump-ing and supplementing only because in my mind you wouldnt have to burn extra calories trying to nurse.

That phone call changed our lives forever. Without the PKU newborn test (I didnt even know they did) we might still be struggling for a diagnosis, and the effects would be irreversible and lifelong. I had a lot of anger in the beginning when I learned that other states get these results within 2 to 3 days and some states within hours. Just thinking of the hell we went through to wait 11 days for the labs. It was too long for me and especially too long for you. Still, I am thankful. I remind myself to pray for the mamas in countries that dont have this testing available. I pray she listens to her in-tuition and keeps fighting back for answers, and I pray they dont write her off or silence her with medication.We have had amazing doctors at Childrens who were aggressive and persistent to get you proper treat-ment.We had hoped your thyroid was just nonfunc-tioning and at some point would work but we learned at 5 months old after an ultrasound that you were born without a thyroid completely. This means medication and blood work will be lifelong. This will all be okay, too.


You are strong and handle needles with ease, even when being poked at multiple times to find a vein in your tiny arms.

growing times summer 2015

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