Growing Times Spring 2015

1The MAGIC Foundation • Ph: (708) 383‐0808 • magicfoundation.org

Growing Times

Annual Convention July 9-12, 2015MAGIC Foundation for Children’s 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 Novo Nord-isk for the incredible team of runners for the Disney run in January. Team Novo raised many funds for Team MAGIC. And a special thanks to all that ran for team MAGIC as well. See pictures (under fun-

draising news) of different runners in this newsletter. We look forward to growing our Team of runners for 2016. Plan ahead and plan to spend a great weekend with us.

Spring 2015

MAGIC Foundation’s 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: Erin Alulis• 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 child’s 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 Co‐Founder, CEO [email protected]

Dianne Kremidas Executive Director [email protected]

Pam Pentaris Office Manager [email protected]

Jamie Harvey Co‐Founder [email protected] Teresa Tucker, Co‐Founder, Patient Advocacy [email protected] Melissa CallahanInsurance Assistance [email protected]

MAGIC Foundation for Children’s Growth6645 W. North Avenue Oak Park, Illinois 60302Ph: (708) 383‐0808FX: (708) 383‐0899www.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...........................................................15Optic Nerve Hypoplasia (ONH)/Septo Optic Dysplasia (SOD) Division News...................17Donations & Fundraising...........................................................................................20Thyroid (THY) Division News.....................................................................................24Growth Hormone Deficiency (GHD) Division News.....................................................26Congenital Adrenal Hyperplasia (CAH) Division News................................................28McCune Albright Syndrome (MAS) Division News.......................................................30


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


I am SO ready for Spring!! With Spring comes warmth and growth and beauty! Don’t get me wrong, I love a little snow like anyone else…but I’m ready for the change! And I’m ready to prepare for our upcoming convention!! This year will be amazing with new presenters and some of our favorites! If you haven’t registered yet, I encourage you to do so. The program is available on our website! This life changing weekend only comes once a year it promises to be great line-up that includes information for the newly di-agnosed as well as that are knee deep in their journey. There will be something for ev-eryone! We have get togethers for dads and get togethers for moms and even one for teens! Dr. Harbison will be available for free screenings and there is no limit to the fun that will be had by all! Can’t wait to see you there!!

A huge thank you goes out to Tristi for sharing her journey with us this quarter. Grab a tissue my friends.

Dayna CarneyConsultant for RSS and Mom to Alyssa(RSS)

TRISTI: He changed everything. It has been over 3 years since I found out that I was pregnant with a little miracle that would not only change my life, but all the lives of those around us. It was over the course of this time that I learned that my divinely-given mother’s intuition would be my compass. It would be my beacon. It would be a loud voice that I was incapable of silencing. You see, somewhere around 24 weeks of pregnancy, my voice spoke up and told me I had better listen. And, I did.

Casey Royce had stopped growing inside the little safe place my body had created for him to develop. I began candidly speaking with our OBGYN about our concerns. I couldn’t feel him kick. I never felt him roll over. I was spending my evenings tied to a rented doppler monitor while praying that this wouldn’t be the time I couldn’t find his heartbeat. As my pregnancy advanced, Casey’s growth was slowly coming to a halt. I was placed in the hospital, hooked to a baby monitor, and given twice weekly sonograms. The goal was to get me to 36 weeks, but if Casey showed any signs of distress, it was time to bring him into this world.

Casey was given the prenatal diagnosis of Inter Uter-ine Growth Restriction, commonly known as IUGR. As long as Casey showed signs of comfort in the womb, we were going to leave him there in order to develop a little longer. I was given precautionary drugs in order to develop his lungs and was placed on a high calorie diet in hopes that he might be able to receive some of them for himself. This was the first time I knew I was giving birth to a little fight-er. No one expected him to last 36 weeks in utero. Casey decided to be in the business of proving peo-ple wrong long before I laid eyes on him. He made it exactly 36 weeks before he sent the very first warn-ing that it was time to come out.

It was that night that our little fighter was born at 3 lbs and 6 ounces. He had that tiny, little body while sporting a very average sized head. He looked like an angry 86 year old man trapped inside of this small vessel of a body. Casey spent several weeks in the NICU at Baptist Saint Anthony’s Hospital in Amarillo, Texas. At first, it almost felt like I was hold-ing a stranger that had so much to tell me. Don’t get me wrong, I knew he was mine and I knew that I loved him on a very deep level. I just didn’t know how deep that love was going to grow as I began to learn exactly who he is today.

Nearly exactly 3 years later, I now realize why it felt like he had so much to say. It was because he did. There was a lot going on inside of my little boy’s body that I didn’t know. There were events occur-ring inside his body and his mind that would take me years to fully understand. In fact, I would wager that I have barely scratched the surface on under-standing who he is entirely. We spent the first year of his life feeling like relatively normal parents. He had created his own little adorable growth curve right along the 3rd percentile. Our pediatrician advised us that this was normal as long as he was showing growth. We trusted her. We took her for her word and we went on with raising Casey Royce.


I can tell you the day that everything changed for us. We knew that Casey was going to be slower on his milestones than the typically developing child. With his body sitting so low on the bottom of the growth charts and his head sitting along the 75th percentile for an average child, there isn’t any mystery to why gravity was his sworn enemy. Still, there was that voice deep within my gut telling me that something was wrong. That voice was right.

Shortly after this time, Casey began to fall off of his growth curve. He started waking up extremely sick in the mornings after a night of excessive sweating. He woke up extremely lethargic, vomiting, and pale. We began to discuss this with our doctor but she did not seem concerned. At first, it was chalked up to food allergies. Next, it was chalked up to acid reflux. My favorite was the very obscure diagnosis of cyclic vomiting syndrome. One morning, Casey woke up really sick. Had I known what I know now, I would have demanded that he be put into the hospital. He was sick for 17 days. He didn’t eat for 17 days. He didn’t show any interest in playing for 17 days. But, regardless of the fact that I was bringing him in ev-ery single day because I was concerned about him, his pediatrician would treat him and send us home.

Fast forward a couple of weeks later. Casey was grossly off the growth charts at this point. He had fallen off the adorable curve I had mentioned be-fore. It was time for the dreaded Failure to Thrive diagnosis. Casey was still vomiting in the mornings. He was still waking up lethargic. He was starting to have more bad days than good. I am a person of significant grace for people. I don’t like having ill feelings. I don’t like chaos or broken relationships. I don’t have room in my life for anger or bitterness. I think this is one of the main reasons why I stayed with our pediatrician for as long as we did. Looking back now, I should have left as soon as we weren’t agreeing on a level of urgency for my child’s growth.

Eventually we found ourselves in this vicious cycle of specialists where the endocrine guy thought it was the GI guys problem but the GI guy thought it was the neurosurgeons problem even though the neurosurgeon had dismissed us from his care. We went from appointment to appointment, from city to city, hoping that one appointment would finally bring us some answers and some peace. You see, Amarillo doesn’t have pediatric specialists here. Our options were either in Lubbock or in Dallas.

It took a severe metabolic crisis to really jump start things in motion. Our family doctor was advocat-ing for us between our specialists, but we still hadn’t made much ground on why Casey wasn’t gaining weight and was feeling so badly so frequently. On

April 22nd of 2014, we couldn’t wake Casey up. He would open his eyes for a few seconds and he was unable to keep them open. He was unresponsive. He was instantly admitted into ICU with a blood sug-ar that fell somewhere within the 30s. His ammonia levels were high and he was in a state of metabolic acidosis. We met with a new team of doctors and we told them our story. They listened and they agreed that Casey needed to be evaluated by geneticists, an endocrinologist, and a gastroenterologist.

We were very hopeful when we went to Dallas but it didn’t take long before we knew we were striking out. We were admitted by an endocrinology team and they told us that Casey wasn’t growing because he wasn’t eating enough. They set us up with a nu-tritionist who came in and told us everything we al-ready knew about feeding our child. Basically, we were dismissed without a follow up plan. We even asked if our child would ever be a candidate for growth hormones and his response was a firm “No.”

We were sent back to the GI team who also admitted us for 10 days of testing. They did a calorie count on Casey and decided that he needed more caloric intake to stimulate “catch-up growth”. Casey was al-ready 2.5 years old at this point but the decision was made to place a g-tube. This is another one of those “had I known what I know now” moments for me. I am not sure that I would have made the same deci-sion in hindsight. During our stay at the hospital, my husband began diligently researching growth disor-ders. Something wasn’t resonating with either one of us. This is when my husband, also named Casey, came across the MAGIC Foundations website. I nev-er knew that one single URL could change our lives so drastically. We gave the button several weeks to work and Casey wasn’t showing any progress. In fact, he was eating less and losing weight. He was vomiting during his feeds at night regardless of how slow we set the feeding rates. We knew it was time to reach out to someone else who knew what we were going through.


First, I joined the RSS/SGA page on Facebook. I watched for several days and even snuck a peek at a few of the other children’s pictures that were being posted on the page. They looked so much like our little Casey. People were talking about the exact same things that we had experienced. I decided to reach out to Dayna Carney, a volun-teer consultant with the MAGIC Foundation. I will never forget my first phone call with her. It felt like it lasted for minutes but it fell somewhere around the hour mark. She strongly encouraged me to work with Jennifer Salem and her as far as getting a free assessment for Casey’s growth. I’ve never made a better decision for my child’s care.

These women are solid gold. They were the first two voices of compassion and understanding that we had heard in a very long time. They were under-standing because they had been there with their own children. The more time passed with Casey not gaining weight, the more the finger pointing was beginning to shift to us as parents. After read-ing the guidebook and with the guidance and di-rection of Jennifer and Dayna, we knew that it was in the best interest of our family to get to New York City to meet with Dr. Harbison, the woman who had literally written the book on growth disorders.

So, here we are. We are 4 days post our first Dr. H meeting. I’m sure she will never fully understand what she actually does for families like mine. She is more than just a doctor to us. She was some-one who understood us and heard every single world we had been saying, for the past 2 years of our son’s life, even though we hadn’t said them di-rectly to her. She got us. She encouraged us. She told us we were doing a good job. She took her time and made sure she had every stone unturned with him. Casey’s weight was exactly where it had needed to be. Casey DID need growth hormones to grow and the course that we had previously been on had been wrong. And, for the first time, I felt that little voice in my gut finally tell me that we had fought the right fight and that we were now able to give Casey the best opportunity he could to achieve his full potential.

Children with growth disorders of unknown origin are some of the most medically misunderstood people out there. Often, the blame is irresponsi-bly placed upon the parents. G-buttons are placed when they shouldn’t be. Hospital stays happen when they aren’t necessary. Labs fail to point you in the right direction of what your child’s body is trying to tell everyone. It’s a long and lonely road out there at times but at the end of that road, there is always hope. There are a lot of different aspects that go on behind the scenes. There is heart ache. There are many tears. There are moments of un-deniable, but temporary, defeat. But with every storm, eventually there is sunlight. With every defeat, as long as you keep pressing forward, you will find victory along the way. For my family, we found victory in New York City. We found victory in the office of Dr. Harbison.

It’s easy to get lost out there. Although I am an in-ternalizer and many people were not aware, I was grieving deeply over the unknown. I was focused on who Casey was going to be 5 years from now. Who would he be in the school system? Would he have friends? Would he ever get to date? Would he play sports? I was so worried about these things that I lost all my hair but, that’s not all that I lost. I lost precious time. One thing that I have learned from this exhausting journey is that I can’t allow myself to drift off to 5 years from now be-cause I’ll bury myself there. I can’t spend so much time fixated on the future that I miss out on the now. I can’t do that anymore because the now is beautiful. The now is unique and special to our journey. We fought the battles that we needed to fight in order to get where we are today. We will continue to fight the next battle and the next but I just refuse to go any further without stopping for a second, hugging my son, and loving who he is in this exact moment. In this exact moment, he is perfectly and beautifully Casey Royce.

These are beautiful kids. They have fought for their right to be here and to be understood. They are uniquely and divinely crafted into these indi-viduals who have the power to change the world around them. Casey Royce is in charge of setting his own boundaries and limitations. He will only be as weak as he allows himself to be and I know that kid can move mountains. I know this because he has already changed my once very hardened heart. He has touched the lives of thousands in his community and he will continue to overcome. He’ll continue to adapt. He’ll continue to perse-vere. He’ll continue to compensate. My only job is to equip him with the ability to do those things.

I’m honored to have the ability to wake up to my greatest inspirations every single morning. I’m honored to be my son’s mother. We are called to be many things for our children. We are called to me warriors. cheerleaders, and advocates. We are called to be comforters, shelters and navigators of their childhood. There isn’t a greater calling. There isn’t a more noble purpose. I do not take that call lightly and, my fellow parents of SGA and RSS chil-dren, I’m honored to answer that call with each of you.

With Much Love,

The Ogdens

http://communityforcasey.wordpress.com

Hypophosphatasia (HPP) Division News


Tracey PorrecaConsultant for HPP and Mom to Nicholas & Cassie

I live in Alaska and our winters are cold and long, but I absolutely love it here, and I love the winters! As I write this, it is -45 below zero outside! The coldest it’s ever been since we moved here is -65 below. That certainly gets your attention! Our home is designed to help me as I get older, but right now I’m loving life and living it to it’s fullest, cold weather and all.

I’m happy to announce that the program is being finalized and the HPP group within MAGIC is going to have a wonderful lineup for this year’s convention, being held near Chicago July 9-12, 2015! If you have not added your name to our mailing list, please contact me at [email protected], or call the main office at 1-800-3MAGIC3 and give them your mailing and email address. They’ll make sure you get all the information you need to attend this event. It’s guaranteed to be educational, inspirational, and just plain fun. I do hope to see as many of you there as possible. Dr. Michael Whyte will be our main speaker on HPP, as well as sessions on managing emergencies, living with and/or caring for someone with HPP, dental issues, pain management, IEP/ADA/504 info, and much much more. If there is something keeping you from attending, but you’d really like to, please don’t hesitate to contact me and we’ll see if we can help.

As always, if you have questions or concerns, or just need to chat, we’re 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 you’d like to join one of the groups, we’d love to have you! Please read the instructions in the header about sending an email asking to join. Because we might not already know you, and because we want our families to be able to communicate without worry, you will be sent an email asking about your interest in joining our group. That’s it – easy! If you have any question, please don’t hesitate to contact MAGIC directly, or email me at [email protected]. The MAGIC Foundation has so much to offer both children and adults, and I’m excited to see where this next part of the journey takes all of us. If you have questions or concerns, please don’t hesitate to contact MAGIC. We’re here to help and support you in this journey!

Hello! My name is Tracey Porreca. I am the Division Consultant for the MAGIC Founda-tion. Nearly 20 years ago when my son was diagnosed with Hypophosphatasia, 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 MAGIC’s Annual Educational Confer-ence.

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 commu-nity. My children are grown now and with renewed energy, I’m happy to be back to support and network families.

Ginny Williams Myers Story

Hello - My name is Ginny Williams Myers. My Story starts with my daughter Sara giving birth to her first child, a son named Jackson. When Jackson was about 2 or 3 weeks old we notice he would cry every time we would change his diaper or pushed on his hips. So Shane( Jacksons father) and Sara took him to the emergency room and they referred him to an ortho-pedic doctor. We were told he had possible hip dys-plasia by the Orthopedic doctor and to come back at 9 months for a recheck. At that appointment the doctor took a new X-ray. We could see on her face she was very troubled and we could hear her on the phone with someone saying “I don’t know what this is, but it’s in every bone in this child’s body.” She then referred us to an Endocrinologist and at the first visit he said “it looks like rickets” but he needed blood work to find

out for sure.

When the test came back as hypophosphatasia, we were then referred to a geneticist. Well, in the state of Oklahoma there is not a geneticist that can test for this so Jackson was sent to Arkansas Children’s Hospital. When the geneticist started asking about family his-tory, that’s when red flags started popping up that we have a family history of hypophosphatasia - like my sister, my twins and myself all having a diagnosis of a juvenile early tooth loss. This means you don’t have enough bone to hold your teeth in. But by the age of 2 1/2 my twins had lost all their front teeth. Then we went to talk about broken bones and it came up that my cousin had to terminate her pregnancy because her baby had no bones. Now keep in mind all these things happened years apart so only someone like a Geneticist could put these puzzle pieces together.


But Jackson also got a second diagnosis there of cra-niosynostosis, meaning that the plates in his head fused too soon putting pressure on his brain and causing it to grow abnormally and he will have a sur-gery called a cranioplasty. I am told it is not uncom-mon for a pediatrician not to notice craniosynostosis and it can be associated with Hypophosthatasia. So when Jackson’s little sister Elizabeth was 5 days old she was tested and also came back positive for HPP.

So as you can see, we have a long life journey a head of us, but there’s one thing that has prepared us for this: My mother, sister and myself are all special needs Foster parents and many of my children have worked or still do work in the same kind of field as re-habilitation specialist or respite provider for people with special needs.

I hope our family story can help others going through the same journey. Our family would like to give Trac-ey Porreca a special thanks for all her support and information that she has given us through the Magic Foundation.

HYPOPHOSPHATASIA (HPP) PATIENTS/ PARENTS of HPP PATIENTS DESIRED FOR DISCUSSION ON HPP DISEASE AND EDUCATIONAL MATERIALS

(NOTE: The MAGIC Foundation has confirmed that this is a legitimate study. We never release your information to anyone… if you are interested in participating, please contact them directly. As of now they have filled their quota of adults and are just looking for parents or caregivers of children under age 18.)

Market Strategies, an independent market research agen-cy, is seeking patients who meet the following criteria to participate in an online/ telephone survey to explore re-actions within the context of their experiences with HPP to relevant materials in development for patients/caregiv-ers. Participation will help to improve outreach designed to support HPP patients and their caregivers/ families.

You would qualify for this study if you/your child:•Have been diagnosed with HPP •You/your child are not currently taking part in a clinical trial for HPP•18+ years of age if patient/ if you are a parent of a child with HPP, your child must be less than 18 years old•Have access to a computer, the internet, and a tele-phone

You will receive compensation for your time and partici-pation. Please note that there are several study require-ments as far as the desired mix of participants who are parents and adult patients, which means we cannot guar-antee participation if you meet these criteria but we will make every effort to include as many people as possible.Interview will consist of

• 60 minute interview via telephone/internet. Compensa-tion for a completed interview is $125.00.All interviews to be completed during month of February, 2015

The interview may be viewed by Market Strategies re-searchers and by the company sponsoring the research (which may include people from the marketing, clinical and sales departments of the company concerned).

If you are interested, please contact Mark Solomon: [email protected] or you can call - 908.803.6944

Something to leave you with -When my son was very young, he had quite a few strug-gles. One day I was particularly frustrated over a situation where he wasn’t able to participate in an activity after school, so I wrote this poem. I’ve received a lot of positive notes about it. I hope that you find something positive in it you can carry with you.


A FRIEND LIKE MEby Tracey Porreca

Please don’t be afraid of meI want to be your friend.

And if you get to know meYour rigid thoughts might bend

Thoughts that I am differentFrom others that you know,

I really am no differentAnd this I’d like to show

I live and breathe and laugh and cryI love to play and learn,

I sometimes do things differentlyWhich can cause some concern

You see, some say I’m specialI guess this much is true,But if you were to ask meI’d say you’re special too

We’re all a little differentNo two are just the same,

It’s really something wonderfulthat way there is no blame

When things don’t go just perfectlyAnd others get confused,

And say things like “poor child”and other terms they use

It’s okay if you look at meAnd might not understand,

It’s okay if you touch meAnd even hold my hand

My life has many obstaclesMuch more than you could know,

But that’s not what I dwell onI’m me, that’s all, and so…

Please don’t be afraid of meI want you just to see,

How truly great and wonderfulA friend like me can be

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.

Watch for MAGIC’s 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.


Central Precocious Puberty (CPP) Division NewsOlivia’s Story

Our journey with Central Precocious Puberty (CPP) began when my sweet baby was only 18 months old. Olivia was growing perfectly, always 50% in the height/weight ratios. She was walking and talking as she should for her age. She was a perfect and healthy child. During a normal day, I was changing Olivia’s diaper and noticed a dark brown discharge. I had no idea what it was and how concerned to be at that point. I contacted her pediatrician and they wanted to see her of course. During our visit, the pediatri-cian noticed that she had longer than normal, dark hair in her pubic area. He was concerned about both symptoms and immediately referred us to a Pediatric Endocrinologist.

We were quickly seen by our Pediatric Endocrinolo-gist for an exam. She was also concerned with the early symptoms Olivia was showing. She also noticed some breast tissue development. It was so shock-ing because Olivia was so perfect to me and just looked like a healthy, chubby baby. As for the hair I discussed earlier; I thought it was just because her hair is so dark anyway that maybe the “peach fuzz” everyone has is just darker on her too. Our Endocri-nologist ordered blood work, an ultrasound of her ovaries and an MRI to check for pituitary tumors. This was a very scary time for our family. Having to have our baby put under anesthesia and all the possibili-ties of what could be wrong with her were terrifying. After a few weeks we got all of the results of the tests. Her MRI came back normal. Her blood work came back with elevated Luteinizing hormone (LH), Follicle

Stimulating hormone (FSH) and estrogen. Her ultrasound also showed that her ovaries were enlarged. This is how we came to the diagnosis of Central Pre-cocious Puberty. Our family was shocked! How could my sweet, perfect little baby be going into puberty!? Of course as a moth-er, I blamed myself first. What did I do to cause this? Did I eat something during pregnancy that I shouldn’t have? Did I ex-pose her to chemicals in her soap or formula? These questions and not having an answer made me feel crazy. Our Endocrinologist reassured me that this was a case of true CPP and that this was going to hap-pen to Olivia no matter what. Something in her little body pulled the trigger and set puberty into action.

After the diagnosis we were all very ready to begin treatment right away to stop the symptoms from getting worse and to halt puberty for the next 10 years! Olivia was too little to begin with the Suppre-lin implant so we started with Lupron injections ev-ery 3 months. Obviously, Olivia wasn’t thrilled with getting shots. When she was 2 years old we decided to get the implant since it would be less visits to the doctor’s office and less trauma for her. The implant surgery was pretty simple. It took about 10 minutes. The hard part was having Olivia deal with more an-esthesia. She had a rough time with it and was very combative. I know that is common with young chil-dren and that she would be much happier when it was over with. She did great for the year she had the implant, we didn’t think about CPP at all and our lives went on happily. When Olivia turned 3, she had her first bone age scan, which is an x-ray of her hand and wrist to determine how her bones are growing. Oliv-ia’s came back with the bone age of a 6 year old! Our doctor assured us that her body would slow down in growth but not totally and that her bone age may al-ways be a little higher than her age. Olivia has always been tall for her age and this is the reason. During this time we also decided to switch back to the Lupron in-jections every 3 months. Our insurance changed in that year and our new insurance had a much higher deductible which made paying for the removal of the implant as well as the new implant very hard. We ended up going back to the Lupron injections due to receiving a grant with the pharmaceutical company. This to me is one of the biggest frustrations. We have to fight hard to receive help. This is expensive medi-cation that my daughter has to have and paying for it is difficult.

Erin AlulisConsultant for CPP and Mom to Rachael


So now, Olivia is 4 years old and she continues to get the Lupron injections every three months. She has been so brave and gets better each time. Her most re-cent injection was Jan 27, 2015 and she didn’t even cry! She was so proud of herself that we celebrated with frozen yogurt! She loves choosing her toppings! We have explained to Olivia that her body is growing too fast and that the shots help her to slow down so she can be a 4 year old. This has sufficed her questions at this point about why she has to get injections so often. We have learned to live day by day and year by year until treatment can be discontinued. At this point, the Endocrinologist is thinking that she will be finished at about ten years old. I continue worry about what the future holds for my sweet girl and her life after CPP.

As a mom, you can’t help but to worry, that’s our job; however, I don’t let the worry get the best of this time. Olivia is growing beautifully now and is fixing to be in kindergarten. She is kind and sweet and loves playing with her cousins. She is learning to read and write. She lights our lives up with so much joy and that is what we focus on everyday.

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

Andrew’s Story

Good day to all, my name is Andrew ‘Andy’ Schei-nok and I am a 23 year old who is living with Pan-hypopituarism and Attention Deficit Disorder (ADD). While ADD is not necessarily an endocrine disorder, my research and discussions with endocrinologist over the years have provided me with the notion that they often go hand-in-hand. I have joined the MAGIC Foundation now, years after my mother once did, in hopes of helping parents and children of all ages il-luminate the dark shadows surrounding this disorder that were once prevalent in my own childhood but have recently begun to fade away. The biography of my life’s story is thus intended to provide a first-person account of how I have experienced living with panhypopituitarism/ADD as well as how it has shaped me in becoming the person I am today. At 6:22 AM on June 11th, 1991, I was brought to term a healthy sized 7 pound 6 ounce baby with idiopathic panhypopituitarism and adrenal insufficiency which was unknown at the time. Four days following my entry into the world, I was rushed back to the hospi-tal after experiencing a high-grade fever and quickly stopped breathing. After my revival, doctors took a spinal tap and blood cultures which yielded no posi-tive results for any infections and allowed for my re-lease following my two week stay.

I returned home without further incidents occurring until I was admitted for two days at 6 months of age for bronchiolitis. Upon multiple check-ups over the subsequent months, it was evident that I was rapidly dropping off of the growth curve for my age.

At 10 months doctors believed the reason for not growing was due to the illnesses in the previous months and pleaded for my parents to wait another 3 months before reassessing my growth. At 15 months, without showing signs of growth, my mother pushed for an endocrinologist to test for growth hormone levels which yielded positive results for growth hor-mone deficiency. Within the next 3 months I was di-agnosed with hypothyroidism as my TSH levels were nonexistent. Suspecting panhypopituitarism, I was further tested for ACTH and diagnosed with adrenal insufficiency and, in turn, with idiopathic panhypo-pituitarism at the age of 2. To confirm, I was given an MRI which showed and empty sella turcica and an atrophied pituitary stalk. While the first 2 years of my life’s events may have been standard for a child born with panhypopituitarism, the years following were anything but ‘‘normal’’. At the hands of my kindergarten teacher, it was an-nounced to my parents, and not for the first time, that I was overly active and had a very hard time con-centrating. Perhaps it was from my fixation on the oc-casional fly on the wall, or just me looking aloof as I pondered the multiple daily daydreams for hours as they passed that had my teacher concerned for my ability to concentrate. With the evidence of me having the attention span of an ant and the energy of a Tasmanian devil, I was evaluated for and con-firmed in having ADD and placed on an individual education plan. This allowed my parents to select my teachers as well as where I sat in the class. In class my ADD proved an obstacle towards my learning of subjects that were not of immediate interest to me while outside it helped seed interests into how many things worked, including my medicines and panhy-popituitarism.

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

Happy Spring to all of my PHP families! Time is flying by and soon it will be time again for another annual conference! Hard to believe. If you have not yet made your plans to be in Chicago July 9 – 13, do it now! You will NOT want to miss this one. We have a great lineup planned, more topics than ever, and you can read what’s in store in the online program on the MAGIC website. The more who come, the better – there is no better way to meet other families going through the same things you are!

This quarter I have a special Personal Story for you. I hope you enjoy and appreciate reading it as much as I did.


Taking shots of growth hormone out of insulin syring-es was something that, as a young child, proposed a lot of mental barriers for me. Finding out how to cope with my ADD, my parents realized that explaining how things worked and why they needed to be done gave me the incentive to carry out such required actions. At 6 years old, I became infatuated with learning how to draw up and inject my own growth hormone. As could be expected from any parent, my mother and father were more than weary of the idea of having a 6 year old administer something that could have a large ef-fect if done incorrectly. However, my parents knew that allowing me to understand and complete the process myself would provide the solitude and confi-dence to supplement the lack of these very character-istics observed in other aspects of my life. By the age of 7, and from then on, I administered my own daily GH injections.

I caught up quickly to my classmates and by the third grade I was in the 75th percentile for my age but skin-nier than rail which further had my mother concerned for my safety during school and every day physical ac-tivities. For all she knew, I could have blown away if the wind picked up past 5 miles per hour during my school recess periods. In fourth grade I became very interested in sports and begged my mother to enroll me in Pop Warner tackle football. I was a very self-conscious child when it came to anything medical but when sports were the subject of interest, I was as com-petitive as anyone. Due to my adrenal insufficiency and being awkwardly skinny, my mother had a very hard time letting me play a game where the goal was to throw someone in the dirt. I only realize now how hard of a decision it was for her to let me play, yet how influential it was in my life in removing some of the alienation I felt because of my condition. As a young child, I felt I was the only one with a medical condi-tion which made me feel abnormal and so I distanced myself from my peers in hopes of no one getting close enough to see me take my medicines or stick a needle in my stomach. Football was an equalizer for me and while it provided my parents with anxiety and appre-hensiveness, it gave me the confidence I lacked in the classroom, at home, and amongst other kids on the block. Something as simple as a sport brought me the ability to prove to my parents and those who knew of my condition that I could outrun, outplay and out-smart other “normal” children my age.

My success in sports at a young age translated almost directly into my school and social life, giving me the ability to perform proficiently in these settings. While my behavior in class was anything but tame, my grades were above average in part due to the com-petitiveness gained originally on the football field. My parents found ways to spark interests in things which later caught fire in the form of passion because, with

my ADD, the only way I found focus was to find this very passion in something immediately. They knew that if they could seed my interest in something within my first time seeing it, my mind would commit to the rest. In 6th grade I got a microscope set for Christmas that kindled a flame for science that I have never let go of. Part of their parenting, I have now realized, was molding and manipulating a stencil for learning that encompassed my strengths and weaknesses.

After finding that I was able to do as much as any other child, my parents ignored any of my further pleas to re-frain from any activity that could expose my panhypo-pituitarism. In sixth grade I begged my parents to not have to go to the infamous “6th Grade Camp” for the sole reason of wanting to prevent other kids from see-ing me take medications and then asking what they were for. Following my parents rejection, I found my-self at camp lining up at the nurses station with hun-dreds of other kids waiting to take some form of medi-cine themselves which, in turn, began dismantling the many fallacies of my abnormality that I convinced my-self of all the years prior. Over the next years it was my parents’ crossroad decisions of this sort, where they traded my initial uncomfortableness for lasting con-fidence, which opened up my eyes to what “normal” really meant. In doing so, I became more involved with embracing my condition and learning about what it entails and where it stems from. As with the micro-scope from sixth grade, this initial interest sparked my lifelong research into panhypopituitarism and began fueling my desire to fine tune my ability to know when something was physiologically “off” with my body.

I was fortunate to enough to have a few doctors grow-ing up that had different ways of approaching my in-terests. On the whole, I found that the doctors who could explain to me what was taking place physiologi-cally in terms a 12 year old could understand made me feel comfortable in the exam room conversations and more responsible in administering my own medica-tions. From the 6 month checkups with these doctors, I began learning how to cope with my own symptoms better than ever before which provided me with inde-pendence that other children my age and older did not have. The notion of understanding what takes place in my body truly gave me a freedom from my condition I could never have envisioned without the help of my pediatric endocrinologists. At the age of 14, I transi-tioned from having the condition control my life to a child who was in control over his condition.

As I reached freshman year of high school I was started on testosterone injections which provided a new in-stance for me to feel abnormal and alienated. Just as in my early age, I was afraid of kids finding out I took a steroid commonly associated in football as a perfor-mance enhancing drug.


Soon after starting the androgen therapy I grew into an awkward body that proved complicated for sports. At that point, it was clear that my testosterone would not be very performance enhancing for the time be-ing. Growing seven inches in a year left me with string cheese legs and a stocky upper body that might have convinced some people that blowing strong enough air at my upper half could just be enough to get me to topple over. While I was no star on the football field anymore, the confidence in my ability to perform in-tellectually was something that always lasted. I grew into that awkward body like do most children during puberty and became quite confident and outgoing; too outgoing. The ADD had accompanied my confi-dence as characteristics that lasted throughout the years. I was a class clown who didn’t have much of a filter and was no stranger to being held after school. While it was tough for me to be quiet, I remained in-trigued with my condition and even more so with sci-ence as a whole. I decided at the age of 15 that, for me to have taken so much from my doctors and this con-dition, the only thing for me to do was to find some way to give back. I made a decision that learning about this condition was not enough for me anymore. From then on I was going to educate others about panhy-popituitarism with what I knew, as well as probe the field of endocrinology for other conditions and disor-ders alike to further my own education. In focusing my new found passion for the field, I recognized that the best way to perpetually learn and educate others in a science I have taken everything from, was to pur-sue a career in pediatric endocrinology.

Following my graduation from high school, and not a moment too soon in some of my teachers’ perspec-tives, I entered college. The class clown in me was quickly extinguished by a very stern and foreign Ad-junct chemistry professor who dropped me from her lab class my second week into my freshman semester. I quickly realized that college required intellect and re-spect and by graduation, that very professor greeted me with my tassel at the honor awards ceremony this past May. I am now a 6 foot tall, still slightly top heavy, 23 year old who graduated Magna Cum Laude with a major in Molecular Biology and a minor in Chemistry last May, 2014. I am currently passing time by doing a stem cell research internship on the University of Cali-fornia San Diego medical school campus until I apply to medical schools this June. My aspirations to one day utilize everything I have experienced in my life to become an understanding Pediatric Endocrinologist are stronger now than ever before. While I still battle with ADD and educating others about panhypopitu-itarism, I am working to hold the future of children like me above any insecurity I still have as I migrate through this journey called life. As I strive to turn my life’s flashlight towards the shadows still casted upon my condition, I hope my story keeps the pathway from

my past illuminated for others to use in any way that helps. The more I age with this condition, the more I realize that it has not taken from, but only provided me with my strengths that have aided me in assum-ing success. As for now my journey has taken me here, to the MAGIC Foundation, a place that once gave my mother the strength and security to provide her son with the ability to reach and aspire to whatever he de-sired. While we are all genetically predisposed to be unique and different individuals from one another, there may be some aspects of my quest that other families and children find similar enough for me to help. For this reason I would like to make myself avail-able to any who would like to learn more about what did and did not work for me as well as what aspects about this condition I know now that I wish I knew before. To the parents, families, and children of the MAGIC foundation, I am at your complete disposal; to the MAGIC Foundation itself, I and my family are for-ever in your debt. I would like to send a special thanks to Janet Meehan for being instrumental in providing me with the opportunity to share this story. I hope to get involved on the online discussion board over Facebook and thank you all for taking the time to read my story.

--------------------------------------------------------------------------------------A closing note from Janet: Please continue to share your personal stories with me. It is these I have found that offer newer parents (and more experienced ones too) so much hope and confidence in the future of their own children.Email me directly at [email protected]


Small for Gestational Age (SGA) Division News

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

As I write this, my daughter Emerence has less than 1 pen of growth hormone left. Today is February 1 so Emerence has had 3,225 shots of growth hormone (ok well we probably missed 1 shot per year so may-be a bit less). Emerence was IUGR and born SGA. I chose Growth Hormone for her for the health benefits although it was nice to get her close to her mid-parental target height which was only 5’1.5”. After a lot of thought I decided not to pursue using medication to help slow her bone age when she was younger. Unfortunately her bone age did advance almost 3 years in the past year or so and her growth plates are pretty much closed. She will be 12 on Valentine’s Day and has a bone age of about 14.5 years old and is just under 4’10”. While I am surprised at how fast the time has flown and would like to celebrate the end of growth hormone, Emerence is less than happy. She wanted to at least be as tall as I am - 5’1” but will not likely grow any further. She doesn’t want to celebrate because she is not happy. Yes, we can tell our kids great things come in small packages etc etc but she really doesn’t care about that. So, with about a week left to go, we are having mixed feelings in our house. Additionally, her body has never quite

reacted to growth hormone like just an SGA kid. Her endo has always said we will watch her to see if she is also GHD when she comes off the GH. So that will be on our agenda to watch for as well as the other long term SGA affects we need to keep track of. So next week begins a new chapter in our lives – the one without GH! It’s almost like telling us to have Emerence stop brushing her teeth…..so wish us luck! Off we go!

Our Little Bit of MagicGregory Vasquez DOB 11/23/07

We first learned that Gregory was on his way through a home pregnancy test – after years of secondary fertility, it was quite a surprise – but a very welcome one, indeed! My OB had run some tests and done extensive bloodwork several months prior to my getting pregnant and insisted that if I ‘just took a few baby aspirin a day,’ I’d be pregnant within two months. I was pregnant within three. Other than the baby aspirin daily, it was a picture-perfect pregnan-cy until the 20th week. Early on, there had been a few concerning ultrasounds and my OBGYN insisted that I didn’t know my dates because the baby was measuring a bit small. Thing was, I definitely knew my dates. As anyone who has had infertility issues knows, a mom-to-be with infertility issues knows her dates! But otherwise, all was well.

I felt great after the initial 14 weeks of morning/after-noon/evening sickness – mainly because of Zofran. I was active, happy, and excited. Around week 22, my OB became increasingly concerned about several measurements and sent me to a perinatologist, just to be certain everything was ok. From that point for-ward, I visited the perinatologist twice per week. Still, everyone was optimistic. Finally, around week 26, my OB sat me down and informed me that they had some grave concerns about the baby’s growth (or lack thereof ). I left his office that day with my head swimming in information about intrauterine growth/IUGR, catch up growth and head circumferences and dates and high risk pregnancies and and…and… a note to hand to my employer indicating that I was on complete bedrest, effective immediately.

I still have that green scrap of paper with my notes and question marks and hearts and doodles when I stopped processing info, scrawled all over it.

The remainder of my pregnancy was touch and go with lots of visits to the perinatologist several times each week. Bedrest was exceedingly boring and te-dious. I learned to schedule my days right down to half-our segments, learned to knit, did some embroi-dery, watched lots of crummy television, and wrote lots of letters and emails. Around week 32, the doc-tors told me what we were watching and waiting for and we discussed under what conditions we’d deliver the baby. Obviously, we hoped for the longest pos-sible pregnancy, but the longer I was on bedrest, the slower our little guy grew. Eventually, we reached 36 weeks and scheduled a c-section for 36 weeks, 5 days. My doctor scheduled me for one last visit with the perniatologist on the day after Thanksgiving. That appointment was the last, though, because be-fore I knew it, I was transferring to the hospital for an emergency delivery!


Gregory arrived via c-section later that night, weighing a whopping 3 pounds, 7 ounces. They’d prepared me for how small he would look – but he still surprised me. He looked like a small bird. Despite his size, he let out a lusty cry, and the fully assembled NICU team was pleased to announce that they were unnecessary – his APGAR scores were 8 and 9 and his lungs were clear. He was sent to the NICU because of his small size, but otherwise, was pronounced healthy and small at birth. Fast forward 24 hours, and the picture became a bit more murky. Over-night and then for several weeks after, Gregory exhibited apneic episodes, bradycardia, hypotonia, difficulty main-taining body temperature, jaundice, and feeding issues. He had an NG tube, through which he was fed a mixture of my breastmilk and high-calorie formula. He gained ad-equately, but not impressively.

He left the NICU after four weeks, just about when he should have been born, had it been a normal 40 week pregnancy. He weighed just under 5 pounds when he fi-nally came home with us. All along, we knew breastfeed-ing was a problem for him. I worked extensively with a lactation consultant, but feeding was a struggle from the beginning. In addition to sleeping though feedings and only nursing for several minutes at time, bottle/syringe/finger feedings were a struggle as well – he was just never hungry! Despite my concerns, Gregory did gain weight – albeit very slowly. Doctor after doctor examined him and no one had any solutions or diagnoses – just that he was a preemie and he needed to catch up. I knew in my heart, though, that something was not right.

Finally, around 5 months of age, one of his outpatient therapists suggested that perhaps Gregory had a growth disorder – she’d recently worked with another family with a similar child and they were patients of an amazing doc-tor in NYC at Mt. Sinai. I did some googling, found Dr. H – soon after, made an appointment – learned about The MAGIC Foundation – and the rest is history!

Gregory has always been a bit of a mystery. He’s managed to develop complications in every possible area of his life: he had RSV at 6 months old, developed spinal meningitis at the age of 8 months and spent a month in the hospital PICU as a result. During that illness, he developed com-plications that puzzled even his doctors at Yale University: salt-wasting disease, blood clotting disorders leading to failed IVs, clotted central lines and DICs, prolonged sei-zures that didn’t respond to typical seizure meds, side ef-fects from the one antiseizure med that was effective in controlling his seizures (he did not sleep for the entire 6 months he took this medicine – 20 minute cat naps be-came the norm in our house until he could safely discon-tinue the meds!). Shortly after his first bout of meningitis, he had a relapse that landed us back in the

hospital for another week. He’s had emergent hernia repairs, three sets of ear tubes that all extruded after just 2 months, and just this past month, a viral skin reaction to influenza A that once again had a roomful of doctors shaking their heads. If there’s a complicated way to do things, trust Gregory to figure it out.

Just before Gregory turned two, Dr. H introduced the idea of beginning Gregory on hGH – more due to his terribly

atrophied and low muscle tone than anything else. Af-ter much research and exploration (both my husband and I are scientists by nature, and research is the crux of our training!), we opted to start a trial. Within 6 weeks of beginning hGH treatment, Gregory went from being un-able to support himself for more than several seconds at a time or feed himself independently to pulling up and soon after, walking! For us, it was the right decision.

Despite all of the challenges Gregory’s encountered, he has a delightful sense of humor and an engaging person-ality. He loves reading, math, karate, and swimming (now that he’s finally realized that he cannot, in fact, breathe underwater!). He attracts others wherever we go, and he’s known in our small New England town as “The Mayor.” His personality is definitely LARGE, and what he lacks in size and muscle tone, he makes up for in giggles and friendli-ness.

Although no one dreams of bringing a special needs or medically complex/fragile child into the world and there truly is no way to prepare for it, we know our family wouldn’t be the same without him. Gregory has taught us more about love, perseverance, and overcoming ob-stacles, and about life in general in the seven years he’s been with us than in the 36 years we lived without him!


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

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

Time is flying by and while we are firming up our plans for The MAGIC Foundation’s 21st Annual Convention we are making new friends every day on our Face Book page! We add new members to our page daily and are growing by leaps and bounds! The support and learning that happens on our Face Book site is absolutely incredible. Moms and dads, grandmas and grandpas, teachers and caregivers all share new stories and old stories and along the way help and inspire one another. Our page is a daily source of inspiration for all of us. Each day we learn and grow with the care we have for one an-other. I am so moved at how often I read that our members are relieved to know they are not alone in their journey with ONH/SOD. We also see that as a result of our very active page folks that live near each other are getting together in their local area to share their common ground! We all look forward to having an even greater opportunity July 9-12 to meet and connect, support and learn at The MAGIC Foundation’s Annual Convention in Lombard, IL! –Martha

Ransom’s Story

My name is Christy Haugen and I am going to tell the story of my journey with my son Ransom who was diagnosed with ONH when he was four months old. Getting pregnant at age 17 during my senior year in high school was the biggest change in my life. Up un-til the day I gave birth I had never even held a baby. I had no idea what was normal and what wasn’t normal for a baby to do. When Ransom was about 4 months old he wasn’t looking at me. His eyes began to move and shake in a way that I knew wasn’t ok. I brought it up to his pediatrician and they began tests to figure out what, if anything was wrong. I can remember the day I was told about his diagnosis like it was yesterday. I was a teenager being told my baby was blind and everything that comes with it.

I remember hearing these big medical terms and I had no idea what they meant! I could not comprehend what I was facing. I can still see the look on the doc-tor’s face when we walked into her exam room. My mom had come with me for support and comfort but we all had tears in our eyes. What I did know is that I loved my son Ransom. I also knew I would never give up! This was the beginning of our long journey.

Ransom’s first four years of life were filled with doc-tor appointments, vision specialists, occupational therapy, and speech therapy. My parents have my biggest fans and have never left my side! When we fi-nally found out what Ransom’s actual diagnosis was my mom was with me to hear the words “Septo Op-tic Dysplasia” and “Optic Nerve Hypoplasia.” When we got home from the doctor my parents and I looked up SOD/ONH on the Internet. What we read was at first terrifying! I am so fortunate to have a mom and dad who were so supportive. We all stayed positive and decided that together we would get over any hurdles that we might face. As it turned out there were a lot of challenges!

As Ransom grew older it became easier for us to tell how much he was able to see. He has never really run into anything and played with his toys just like any other child. Although he does not need a cane to get around he has been taught that he may have to walk with a cane. Not because he needs a cane but because it helps others understand he has low vision. He also can read and write print. He rides dirt bikes and four wheelers and loves hunting and fishing with my dad, his papaw. I am raising him to know he is just like everyone else. I have taught Ransom to never be ashamed or embarrassed that he was different and I never allow ANYONE to treat him different or give him pity.


...Ransom’s Story continued

At age 4 we moved right outside of Indianapolis so that he could start preschool at Indiana School for the Blind and Visually Impaired. This was a huge change for us because Ransom and I had never been away from our family. It was hard but we made it work. Ran-som had a great experience at ISBVI. ISBVI is just like a regular school. While he was there Ransom learned to read braille. They have lots of different sports the kids can play, Ransom was even on the wrestling team! They have Boy Scouts and cheerleading and one heck of a band! Over the years I have taught my son to read large print text. The ISBVI offered classes for parents too and I was able to learn braille. My son now has also been a huge help teaching me braille! We have been able to learn so much from each other!

Ransom attended the Indiana School for the Blind and Visually Impaired for seven years. It was a great place for Ransom to begin his school career. He learned so much while he was there. The only bad thing is the children don’t learn how to interact with or make friends with sighted children. I wanted him to learn how to live in a sighted world too. It was nice for him to be around other children like him but I wor-ried about what would happen when he’s finished with school and he would not have learned how to interact and get along with everyone. Ransom has been asking to go to public school for two years. I just wanted to do what was best for Ransom. So after years of thinking about it and tons of research at the start of 2015 I decided to pull Ransom from ISBVI and place him in public school.

The biggest reason I placed my son in a mainstream school is so that he can have that whole social aspect that us sighted adults had as kids. Before Ransom’s first day of school there were special activities to cre-ate opportunities for social interactions with all the students in the school! A week before he started at the new school Ransom and I went to the school so everyone could meet him and so he could see what his days will be like at school. They ask me if it was O.K. if students could ask Ransom questions about his vi-sion. After meeting the students we sat in class and went to lunch and talked to and met a lot of students and teachers. The school and I had a few meetings too just to go over what Ransom will need so that they could make his transition as easy and comfort-able as possible. All the teacher’s staff and principal at Reagan Elementary are so amazing! We couldn’t have found a better school!

He is now in his third week of public school and is do-ing great! One of my main worries about mainstream school was that he would just be stuck in a room all by himself and not have an opportunity to interact

with other students. I was totally wrong! At his new school he is in a regular classroom with 27 other stu-dents! He has a classroom aid by his side during class to help explain what he’s unable to see. Ransom re-ceives direct services from a teacher certified in blind and low vision throughout his school day. He sits at the front of the classroom and the school ordered all kinds of equipment to accommodate Ransom’s needs. I’m just so glad I decided to let him try public school. He has made so many friends and all of his classmates are so kind and eager to help him anyway they can. Before he started his new school I talked to him about how kids will ask him questions about his eyes and they are not being mean, they are just curi-ous. He has since told me that some kids have asked about his eyes and that it doesn’t bother him and no one has said anything mean. Our decision to place Ransom in public school has brought a huge change to our lives in a wonderful way. Probably the biggest and best decision I have ever made. I’m just so proud of the young man he has become.

Around the age 5 Ransom began to have severe head-aches. I took him back to Riley Children’s hospital and he was diagnosed with Chiari Malformation and on November 2, 2009 at age 6, he had brain surgery to correct the Chiari. Chiari malformation is a condition in which brain tissue extends into your spinal canal. It occurs when part of your skull is abnormally small or misshapen, pressing on your brain and forcing it downward. Ransom is now 11 and at his regular check up, his doctor noticed a small curve in his back and did X-rays immediately. The next morning we were informed that he has scoliosis. It’s very mild and needs no treatment at this time. The doctors will just keep an eye on it. About two weeks after we found out about him having scoliosis, he had a seizure. He had never had one before and the doctors couldn’t find what caused it. Thankfully he’s not had anymore.

It has been a very busy eleven years since Ransom was born! I was a single mom until Ransom was two years old.

DID YOU KNOW?

If you donate through the United Way, you can help MAGIC! We do not have a United Way number, but you can fill in “The MAGIC Founda-tion” 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.

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 can’t 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.


...Ransom’s Story continued

When I was twenty-one I met my amazing husband, Jared. Jared and I have had two more beautiful kids Har-lan (7) and Remmey (2). Ransom’s dad hasn’t really been in his life and since the age of two. Jared is a great dad to all our kids and loves Ransom very much. All three of my kids are super close and Ransom is very protective of his younger siblings! We treat all of our kids exactly the same and don’t make Ransom feel like he’s different. Our family loves doing things together especially camp-ing, hunting and fishing and amusement parks. Ransom LOVES roller coasters!

I have learned so much from being Ransom’s mom. When first I learned he had Optic Nerve Hypoplasia I cried. I have shed MANY tears along our crazy journey. It has not been easy but I would not trade my journey for anything! What I do know is that Ransom is more like all other kids than he is different from them. I treat him just like I do all my children. I teach each of them to be proud of who they are! As a parent, especially a blind/low vision child, there will be ups and downs, but just re-member it’s doesn’t matter what God throws your way, it only matters how you handle it!

Proud mother, Christine Haugen


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 amount is kept confiden-tial. Thank you for putting your gift to work for MAGIC children.

In honor of Taylor Sun, RSS, fundraiser with Scentsy for MAGIC from:Lelia Cohen In honor of Chael Rammel’s birthday, PAN/Tumor from:Don, Erin, Tony and Ashlyn Rammel

In honor of Jennifer Ricketts, GHD Mom from:Karen Gustafson

In honor of Christie Whiting’s birthday, RSS Mom from:Cynthia Farrell Donation given for Christmas in name of Jennifer Majors and family, RSS from:Gary & Debbie Engnell Donation given for Christmas in name of Amy McGovern, RSS family from:Allison Lathrop Matthew Reuter family, GHD, Christmas present donation to MAGIC In honor of the Gudeth family from:Phyllis & John Bynard In honor of Taylor Sun, RSS from:Allison TedescoAmy MalyszTachikawa Family In honor of Sarah Cohen’s 4th birthday, sister of Liam, MAS/FD from:Caitlin & Gavin CarnowBecki Jo Miranda In honor of Riley Cox and Sadie Vandiver, for her precious grand kids from:Tonee Crabtree In honor of 4th Annual Jake D’Espinosa MAGIC Foundation Charity Event from:Roxanne MorinIn honor of Ryker Feist, RSS from:Marvin & Nancy FeistMax & Jennifer Vander LindenSignatures Salon, Theresa Grahek

In honor of anniversary of baptism for Sophie and Ellie Fuller from:

The Hamiltons

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 grandfather of Nicholas and Caitlin Shapleigh, CAH from:Barbara SmithRobert & Kristen WilliamsJoseph Czarnecki and Johanna S. HabibNancy L. ZonaAgatha Marano/Matthew SpinaTricia ButlerArthur & Judy RichardsonRichard & Barbara LanzilloThe Oliari Charitable Foundation, Inc.Mary T. ConnellyDan & Sue McGonagle Carolyn & Joe Mahoney Donald & Barbara Stats Bruce & Gertrude WhippleJanice & Bill McNicholsJoseph & Patricia Tower

In memory of Donovan Jacob O’Neil, SOD adult from:Larry & Martha GeninEric & Fay LandryLisa EymardMark & Jacque DeLoachMichael & Tracy TurnerDonna M. OttRobert R. Landry

In memory of Caleb Clay Maximo Barrera, PAN/Tumor Charity BBQ Tournament, Saturday, September 14th from:

CTC Electrical Service, LLCAces & 8’S, DBA SharksStein Services, Inc.Martz Bros. Lawn Care, Inc.

In memory of Crystal June Mantle, AGHD, from:Gerald & Olive HoffmanDormee McGruderJaci GoingsDon & Debbie DeeGene & Barb Kirby

In memory of Linda, Dale Murphy’s sister:Kathy ZiebellMary Jo Mikottis


OTHER DONATIONSDonation from the George and Julie Mosher Family Foundation

Donation from:David & Jill Wright Bellerive PTO popcorn fundraiser for MAGIC Christie Cochran, Mom of Liam, GHD, ran local race on January 3, 2015 donation from:Bettina & Don George Donation from 31 Party hosted by Amanda Synal

Donation given for Christmas in name of Jennifer Majors and family, RSS from:Gary & Debbie Engnell Donation given for Christmas in name of Amy McGovern, RSS family from:Allison Lathrop Matthew Reuter family, GHD, Christmas present donation to MAGIC

Walk-A-Thon by Bryan & Courtney Rivard and Family

Donation thru fundraiser by Ian Rammel, through his MMA bout, Mixed Martial Arts his son is PAN/Tumor.

Fundraising NewsEmma’s MAGIC Mudder 2015

Alright party people, We’re back at it again! As most of you know, for the past ten years since I was 9 years old I have been holding events to benefit the

children and families of the MAGIC Foundation. My inspiration is my brother Kevin who has McCune Albright Syndrome, a disease that makes his life very challenging.

The money we raise helps families (who otherwise cannot afford it) come to the MAGIC convention; where the foundation brings doctors and speakers from all over the world to Chicago to educate us about Kevin’s disease and other disorders whose families the foundation supports.

If you wish to donate or simply learn about my cause, please click the link below. http://www.gofundme.com/jlgzwg?fb_action_ids=10205231803811296&fb_action_types=og.shares&fb_ref=fb_cr_n&fb_source=other_multiline&action_object_map=%5B901979683175569%5D&action_type_map=%5B%22og.shares%22%5D&action_ref_map=%5B%22fb_cr_n%22%5D

Team MAGIC Disney RunHere are some pics from the Team MAGIC Disney Run in January at Walt Disney World. Thanks to all that participated and made this a very successful fundraiser.

Donations and Fundraising News


Team MAGIC Disney Run January, 2015


Team MAGIC Disney Run January, 2015

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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.


Thyroid Disorders (THY) Division NewsDavid’s Story-You gave birth and it was hard but the pain was taken away the minute you saw your perfect child. To every mother your child is perfect. The love and excitement from the journey you took to get there shows. The fear of not knowing on top of the overwhelming emotions is a lot to handle. I know these things because I have personally felt them.

I am also a maternity nurse. It is my job to give you the advice to help you care for your new child. You are discharged with all I can teach you. I discharge you in good health and then you get that “talk;” that notification which would change your life. However, at the time of the birth of my child I was not a maternity nurse, but a nurse. I worked with adults but little babies I knew nothing about.

It was a hard pregnancy. Our little guy tried to come at 31 weeks, so, I spent some time in the hospital trying to keep him in. It worked. I was able to go home on bed rest, and he decided to give us a Christmas Eve blessing at full term at 39 weeks. The birth process was perfect and he came out perfect! We had our perfect child. He was sleepy and we struggled with breastfeeding but he was healthy.

We came home and had our scheduled appointment. There we were asked about the newborn screening and if the state had contacted us. I looked at the pediatrician, confused. I was told David’s newborn screening for hypothyroidism came back abnormal and we needed to get a confirmation test as soon as possible. When he was four days old we went to an outpatient lab for testing. He did well. Later that night the pediatrician called. We have confirmation: TSH 485.87 (normal value 0.70-27.22) and the FT4 0.27 (0.7-1.9).

He has congenital hypothyroidism. Immediately I put blame on myself as I have Hashimoto’s hypothyroidism. The guilt, confusion, pain, and not understanding was a bit much. I cried. I will be honest.

We met with his pediatric endocrinologist, Dr. Sarah Lawson, of Cincinnati Children’s Hospital the next day. We started treatment and moved on. Yes, it was difficult but we found ways to give David his medication. Being young we crushed his meds and gave it through a syringe. As he got older we still crushed them but we gave it in a spoon with some water. Results were promising. We increased and decreased but things were ok and even though he was behind on development he was doing well.

We had some minor concerns as he was not sitting up when he should have. He did not crawl when he should have. We were offered “Help Me Grow;” however, I remembered our daughter doing something similar and thought we just have laid back kids. He was meeting his milestones, just later, so we held back on the referral. We continued to see his pediatric endocrinologist every three months.

In November of 2013 we had his three month labs drawn. Results were not promising this time. His TSH had risen but his FT4 was normal so we knew what would happen. We needed to increase his dose. Not even two years old and he was now taking 100mcg every day. That is a high dose for a little body. We were to follow up in three months. We also agreed to take the “Help Me Grow” referral as David had not been talking as much. He only had a few words in his vocabulary and he should be saying two to three word sentences. They came by and he was shown to have a documented delay. So, we set up for bimonthly visits with a therapist who gave us tools to help him communicate.

About three weeks after starting his new dose we were sitting at the table eating breakfast. I looked over at my son and I started noticing his heart beat. I could honestly see his heart physically beat. I grabbed my stethoscope out of the bag. His heart was beating way too fast for his age. I called the nurse that works for his endocrinologist and before I even called I knew they would want to do labs. We had those drawn and both his TSH and FT4 are elevated. Most parents that are reading know at some point during their initial visit they have been told the importance of getting that TSH down. Treat the TSH and protect the brain. This is very important especially during the first three years of life where this is an important time for growth and development of your child’s brain. We were concerned for our child but knew we needed to protect his brain. We were now alternating the dose daily between 88mcg and 100mcg.


Labs were drawn about a month later and showed improve-ment with his TSH is now normal; however, his heart rate was still high. We decided to try a different alternating dose of taking 88mcg for two days followed by 100mcg on the third day. His heart finally agreed to this dose. During this stressful time thyroid resistance was introduced to us.

I had never even heard of such thing. I am not sure how to describe what thyroid resistance is but the best way I can explain is David’s brain is resisting the medication. His brain does not understand he needs this medication. This would explain why he required a much higher dose than most pe-diatric patients.

We went ahead with the genetic testing. This test took over a month to get back and we were told it could come back negative, but they would still pursue the diagnosis. It did come back negative. While we were waiting for the test results an ultrasound was ordered to take a closer look at his thyroid. After the scan the technician told us she would show the results to the radiologist and would return. I know from being a nurse when a technician gets the radiologist something is wrong.

The radiologist began to the scan himself and told us he does not see any thyroid tissue and that his thymus tissue was where his thyroid should be. I honestly did not get upset because all it meant was David would be taking a little pill for the rest of his life and would not be trialing off the medication at three. The point is David has no thyroid. Treatment is the same. We continued to follow therapy and had labs drawn.

Over the next few months we dealt with a high FT4 but his TSH was normal. It made sense to have that high FT4 as he was being treated. But I wanted to have two normal labs once again. Each new lab draw would be emotional for me and I would be scared to see the results. Every now and then his heart rate would get high but usually during play. I was okay with that as long as when I have checked his heart , while he was sleeping , his resting heart rate would be normal. I was getting less worried about that issue.

Also during the stressful times I met another parent named Blythe through the Parents of Congenital Hypothyroid-ism Support group online. We quickly began to talk and exchanged stories. Her Thyroid Mom blog, the support of MAGIC, and the support of other parents who were going through helped us through our hard times. I was asked to be a guest blogger for her page to raise awareness. This would be a wonderful thing and it would help me talk about it.

My article was released in August, and I enjoyed every mo-ment sharing my story. At the time I was still concerned and scared about David’s future. My story is the same but with a great outcome. The months passed, and we contin-ued to have beautiful labs. “Help Me Grow” continued to work with David and before we knew it his third birthday was approaching.

We spent much of December in testing with the local school district to see if David still had a delay. We were beyond ex-cited to be told he no longer had a documented delay. We did the “happy parent dance.” All of our hard work, thanks to

“Help Me Grow” was a success. We worked with David every day. We had the support. I mentioned in the Blythe’s blog that I honestly did not be-lieve David’s delay had anything to do with his congenital hypothyroidism. I still stand by that, but I do understand this disease left untreated can cause issues. We continued to have great labs and great results with his development. His “big three “birthday was coming up.

We had the labs drawn and that moment was the best moment we as parents have felt! Three long years of ups and downs were hard. Once again we had beautiful labs. The best they have ever been and his heart is happy and healthy. We did it. We protected his brain but not with-out the support of Dr. Lawson. We were so lucky to have support from the very beginning, and we never had to seek a second opinion. His health was always number one to her. Never once did we feel like he was being rushed out or overlooked, which may not be true of others. This makes me sad as a parent but also as a healthcare profession myself. I know many of you struggle worse than we did just by the fact that you are not given answers or not given the time. That is a battle I am glad we never had to face. I wanted to write this piece to give hope. We were scared. I can’t imag-ine being scared and not supported with our child.

But I do know that feeling of being scared and not being supported with my own health. I battle my own disease and I know what it is like not to be told something and having to wait weeks for a test result because the doctor is busy. I battle a rare disease called Myasthenia Gravis. Stress makes my condition worse. I struggled with my own diag-nosis and the hope that David brings also brings hope to me. I will be okay. It takes time, just as it did with David. As parents we put our children first.

Compassion is out there. We were all told if you had to be born with something this is the best. As a healthcare pro-fessional I stand by that response we all hate to hear. As a parent it was the hardest thing to hear because you feel your child’s issues are not as important. But they are, and I have learned so much through this journey. We are very thankful this disease will not shorten the life expectancy, but we should all validate anyone’s battle. Empathy can be very powerful if you can’t sympathize with a person. You are not alone. I write this so you have hope. It is hard I can honestly say but we all struggle in our different ways. What I want is acceptance, validation, and support. And the MAGIC Foundation has given me that.


Growth Hormone Deficiency (GHD) Division NewsI hope you have all set aside the dates July 9-12, 2015, to attend this year’s convention. This year’s line-up of speakers is fantastic! We will focus quite a bit this year on the emo-tional toll that our children face and how it affects the entire family. We will also have a great session on a question that is on many of our minds- the Genetics of GHD. For those with IGFD, we will cover that in a session of understanding what those numbers mean & it will include how it affects GHD treatment. And to end our GHD/IGFD weekend, we will have an hour dedicated to answering the questions you still have circling around in your head. The all groups’ sessions will include one on compliance & the importance of staying on track with GHD injections. Also a great new speaker will discuss sleep issues. All in all, an opportunity to learn & socialize. I hope to see you all there. Start planning now!

Teresa TuckerMAGIC Foundation Co-Founder and Mom to Stephen

Amy’s Story-I was born on August 2, 1971, 5lbs 1oz. And 17-3/4 inches long. I was 3 weeks early or so they thought. I was so little being only 4lbs 7 oz when I was released to go home, that I was put into doll clothes because even size 0 was too big. I was put on 5 different formu-las, throwing up all of them, including Soy formula. I ended up on skim milk which of course did nothing to put on weight. I was bald and my mom taped bows to my head for my pictures. I had no hair until I was two. At my first checkup I had not grown very much and began growing only ¼ inch in a year and at my first birthday, I weighed 11 lbs 4 oz. I spent my birthday at Upstate Medical Center in Syracuse, NY because they needed to do testing to see why I wasn’t growing. My doctor told my mother to put olive oil in my ice cream so that I would hold the fat content to try to gain some weight. Can you just imagine that.......

According to my mother I reached all my develop-mental milestones ahead of schedule and was potty trained at seven months by my grandmother. I know, that is unbelievable but I was. Unfortunately, when I entered the hospital, they put me back into diapers and I had to be potty trained again. I was talking at a year old and at eighteen months, could recite the Our Father, Hail Mary, Glory Be to the Father and Now I lay me down to sleep. People would stop in the stores and ask how old I was because I was talking up a storm. It was suggested at that time, that I might need growth shots but my father would not allow them. Since my parents were not together it made it difficult for my mother to get me started on the treatment. Unfortu-nately, I lost 5 years of growth. Don’t believe the doc-tors who say that it’s okay to start your children later, that they will catch up. Not true.

At age 5 when I entered Kindergarten, I was in a baby size 2 and weighed 26 lbs and was 24 inches tall. I had to be carried out during the fire drills because I couldn’t go down the steps fast enough. However, when I went into first grade, and I still had to be carried

out during the drills and my desk was too big, I began to throw up before school not wanting to go. Once it was realized that I was bending over all day to reach the desk, a maintenance man at school cut down my desk, moved it closer to the seat (it was all attached) and gave me a little footstool. This desk went with me up until 3rd grade.

It was at age 1 that I was diagnosed with hypopitu-itary dwarfism and it was recommended that I receive growth hormone shots. However, I did not start them until age 6. At the time, the only thing available was human growth hormone which was harvested from cadavers’ pituitary glands. I was one of 15 children in the U.S. to be on the human growth shots. I began to grow 3-4 inches a year compared to ¼ inch before the shots. I hated, hated, hated the three shots a week and gave my mother a terrible time. It was one big crying match three times a week. Since it was so diffi-cult to give me the shots and she didn’t know any bet-ter, my mom gave the shots almost in the same place in my butt and after a couple years, I stopped grow-ing. The doctor was going to stop the shots which cost $15,000 in 1979 until he had me walk on the floor naked and saw that the places on my butt had sunk in and all the flesh had been deteriorating making the shots no longer being absorbed. Thank God the doc-tor found that and my mother began to give me the shots in the front of my thighs. The synthetic growth hormone came out about when I was 11 but because I was growing on the human growth hormone shots and there wasn’t much research on the synthetic, my mother refused to allow me to change. I continued until I was at age 13 and 4-1/2 ‘ tall, which was my final adult height when the shots were stopped.

I became a cheerleader in the first grade for basket-ball, a ballerina, gymnast, and all the activities that any other child was involved in during school into high school. My height didn’t keep me from doing anything. I learned to drive when I was 16 and was a normal teenager.


I had my first child at age 27 but needed a caesarean delivery because she ran out of room and her head was tipped and she was behind my pelvic bone. She was a full term baby, weighing 7lbs, 9 oz, and 19-3/4 inches long. Today she is a normal size 15 year old. At age 31 my second child, a boy, was born at 36 weeks. He weighed 5 lbs 3 oz and 18-1/4 inches long. He was a planned caesarean birth but was a month early. He looked exactly like me and I knew that he was going to have the same growth problem as me. But because my shots were so horrible, my husband and I strug-gled with the thought that he might need them too. After a ton of research, my son started on the synthet-ic growth shots when he was 2-1/2 because I didn’t want him to go through life so short like me. Society is not as accepting of a short boy and they would be for a girl. The shots were very different than when I had them. The needle was smaller and prefilled. He gets 6 shots a week compared to my three. It was so much better that I didn’t have to take a two inch needle and put it into his muscle, with a burning solution like my mother had to suffer giving me.

So my son, Dustyn, is growing very well. He is 12 years old and is of course taller than me. He is 5 foot tall and weighs 82 lbs. I am so pleased with my deci-sion to start him on this treatment when he did. The doctor he should grow until he reaches age 17. He has sensory processing disorder which is sometimes mistaken for ADHD. He needs special help in school as his teachers say that he is brilliant, but needs to be given the time to do his work. I believe I also have this but was undiagnosed as a child, since there was no research to back up that diagnosis back then. He is a normal 12 year old. He plays baseball, he is a blue belt in Karate, he hunts, rides four wheelers and drives me crazy ha ha.

Seven years ago my son’s doctor in NY wanted me to be tested as I was experiencing difficulties with my health. Unfortunately, I ignored that recommenda-tion because of the fear of those shots again. Two years ago my health started on a downward decline and I became very ill. Here started my journey of a ton of testing, several doctors and undiagnosed illnesses. I went from a normal 88 lbs to 64 lbs in a little over two months. No one could find out why. That is when I started to do research on adult growth hormone de-ficiency. I began to see the same symptoms with lack of growth hormone as I was experiencing, but could not find a doctor who knew anything about adult de-ficiency. This has been such a stressful experience not being able to convince doctors what I needed. Then I found a endocrinologist in Raleigh, NC who was sup-posed to know all about adults on growth hormone. As it turns out, his experience with adults was only with one adult with a pituitary tumor. He was sup-posed to give me a stim test requested by the insur-ance company, but he gave me a glucose tolerance test instead. Duh!!!!!

So I then found another endocrinologist at Duke and after testing and trying forever it seemed to convince Blue Cross Blue Shield that I needed the hormone, I fi-nally started on the shots last July. Since being put on the growth hormone shots, I have gained weight, and I have more energy. My muscles do not hurt as much and I don’t feel like I am 80 years old. But I had to get to the point of almost dieing to convince myself that I needed this treatment again. This time, the shots are so different from when I was a child, I hardly feel them. I wish I had started them back 7 years ago when it was recommended by my son’s doctor. It is so frustrating that there isn’t more knowledge about growth hor-mone deficiency in general. I hope my story can help some parents to make that decision to start their child early. You wont regret that decision.


Congenital Adrenal Hyperplasia (CAH) Division News

Lisa HughesConsultant for CAH and Mom to Liam

Now that the holidays are over I hope everyone is having a great New Year and fulfill-ing all of those New Year resolutions. It seems winter has finally hit full force here in the Midwest. We didn’t have snow on Christmas day, which made my 6-year-old a little sad, but lately it has been very white outside (and cold, and icy). Most of our family is in an-other state so we had a fairly uneventful Christmas this year, but the kids got everything they wanted and they were pretty happy.

Since the last quarterly newsletter we have had a couple birthdays in the family. Liam, my salt-wasting CAH son, turned 6 in January and Brendan, my non-CAH son, turned 12 in January. We also had a round of illness come through the house just before Christ-mas. It started with Liam and he spent about eight hours vomiting every 30-minutes throughout the night – It was terrible. Needless to say, I didn’t get much sleep that night. Even when he wasn’t vomiting I was very worried for him. I ended up having to give him an emergency Solu-cortef injection the next morning and within a half-hour or so he was good as new. Then the illness hit the rest of us and we weren’t feeling well for about two weeks. Once it was all over we realized Liam had the best of it. It only lasted about 12 hours with him, but at lasted a couple weeks for the rest of us. It can be scary when our CAH children get sick, but I am finding that the older they get the better they communicate how they feel and the quicker they recover.

Every time Liam gets sick and needs his injection it reminds me that most ambulances do not carry the Solu-cortef injection and they are also not allowed to administer the injection even if you have it on hand. Now is a great time to reach out to your local fire station and Emergency Medical Service (EMS) to educate them on CAH and raise awareness. In my area, we have a fire station less than a block away. We have brought them reading material on CAH and let them know that we have a child in our home who was born with the condi-tion and in an emergency he may need the injection. Although they may not be able to administer it, they will be able to communicate this to the local hospital so they are prepared for his arrival should anything hap-pen. Also, it is wise to have your child wear a Medic Alert bracelet or necklace of some sort that will inform EMS of their condition. Now that Liam is a little older he wears a Medic Alert necklace with an inscription that says “Adrenal Insufficiency – Treat with Solu-Cortef” whenever he leaves the house. On a good note, I would like to introduce you to Rowan. Here is Rowan’s story:

It was New Year’s Eve 2013. Our new baby Rowan was just a week old, so we didn’t have any exciting plans, but New Year’s Eve always gives me feelings of hope and resolutions and starting over. We had experienced some relatively minor, but very stressful health problems with our older son, Sawyer (3 years), that year and I was excited to move past those. Those issues were behind us, we had a new baby, and a new year. Life was good and easy. At 10am that day my phone rang with an unfamiliar number. It was a nurse from Rowan’s pediatrician’s office. She said that one of Rowan’s newborn tests had come back abnormal and his 17-hydroxyprogesterone levels were high. I heard the words salt-wasting Congenital Adrenal Hy-perplasia for the first time in my life. She wanted us to go into the hospital immediately for further blood work. After a few hours we had the results. The mes-sage we got was his salt levels were not right and we needed to go immediately to the emergency room at Cardinal Glennon Hospital in St. Louis. We quickly stopped to pack our bags, say goodbye to Sawyer (who would stay with his grandparents), and then made the 3-hour drive to St. Louis. I sat in the back seat and held Rowan’s hand the whole way.

A few different doctors checked Rowan out and asked a lot of questions. They took a lot of blood. Once set-tled in the room the resident doctor explained they planned to start him on the steroid hormones fludro-cortisone and hydrocortisone right away. He would also be taking a prescription salt solution six times a day. The on-call Endocrinologist and nurse would be in the next day to talk with us. We were left alone and soon we heard what sounded like gunshots. They were fireworks. It was 2014.

I cried a lot over the next two days in the hospital. I cried when they told us the blood they took the night before had gone bad and they’d have to take it again. I cried when they tried to draw blood three more times and then took it from his scalp. I cried when the nurse brought in his medicine for the first time. The first medicine that, from then on, Rowan would have to take every day, 3+ times a day, for the rest of his life. I cried when my baby boy vomited that medicine up again and again. I couldn’t stand to watch them give him medicine anymore. Ryan and the nurses worked out different combinations of wa-ter and cherry syrup and syringes and bottles


to get Rowan to take the medicine he needed without vomiting. I cried again when we were dis-charged on the 2nd, I didn’t want to leave the hospi-tal where Rowan was safe and could be easily saved if anything happened.

The next few months turned out better than expect-ed and Rowan stayed healthy. We got into a routine and found different methods for giving his meds. He’d go on strikes every once in a while and we’d have to fight to get the meds down, but we man-aged. I decided not to return to work after maternity leave so that I could stay home with the boys. Rowan was a laid back baby who seemed to be growing and developing just perfectly. We checked in at his Endo in St. Louis at 2 months, again at 4 and again at 6.

At his 6 month appointment in early June I asked the nurses to check Rowan’s blood pressure. I had read in the Endocrine Society guidelines that infants BP should be monitored regularly, and Rowan’s had never been checked. The nurses took the reading and one looked at me and worriedly said, “Mom, is it always that high?”. His systolic pressure was 140+. It should have been <100. They were very concerned. His endocrinologist had us stop all his salt and his fludrocortisone and she directed us to get labs done and get his blood pressure checked at our local hos-pital the next day.

His electrolyte levels looked okay the following day, but we could not get an accurate reading done on the automatic BP machine they were using. Because it was a Friday, his Endocrinologist wanted us to be admitted to the hospital so they could keep a close eye on him over the weekend, so we drove back to St. Louis. His blood pressure came down without the salt and fludro, but of course his sodium began to fall. As salt and fludro were reintroduced his BP came back up, so we started a blood pressure medication. Over the next month we tried countless different combinations of salt and fludro and BP meds to see what worked best. All the while getting blood draws almost every other day and getting unreliable blood pressure measurements at our local hospital. After a month of working with insurance and a medical sup-ply company we got our own specialized equipment enabling us to take Rowan’s BP at home. With daily monitoring and starting another blood pressure medicine, we finally got his blood pressure stabilized around 100. He has had two kidney ultrasounds to look for other possible causes of the high BP, and one heart echocardiogram to look for damage caused by the high BP.

At Rowan’s August Endocrinologist appointment I started to get concerned that he had not gained very much weight or grown in height. The doctors were not concerned. In early October he still hadn’t

grown much. The doctors still weren’t concerned. They did a second measurement, stretching him un-til he cried and getting an extra quarter of an inch. They were satisfied, but I was not.

In October, we visited the National Institute of Health in Maryland, where doctors are doing a study entitled “Natural History Study of Patients with Excess Androgen”. With Rowan’s young age his visit consisted of a blood draw and a visit with the doc-tors. Ryan and I also gave blood so they could look at the genetics of Rowan’s condition. I expected a lot of answers from this visit: How can we fix his blood pressure? Why isn’t he growing and what can we change about that? I didn’t get those answers. At Rowan’s December appointment he still had not gained or grown much and his doctor finally ex-pressed her concern. He has only gained a pound and grown a little over an inch in six months. We continue to see his Endocrinologist regularly and continue to worry about his high blood pressure and lack of growth.

Since his diagnosis on December 31, 2103, Rowan has taken 60+ medicine doses every week, had blood drawn more than 40 times, and worried his mother sick. But he hasn’t let any of that slow him down. He is the most laid back, happy baby! He is an expert crawler and loves to stand up, but isn’t walk-ing yet. He continues to nurse well, and green beans and cheese are his favorite foods. He can say mom-ma, dada, and night-night. He loves making animal sounds and can even crow like a rooster (since we have 5 roosters to learn from!).

We had a rough start to 2014. But I should have been thankful then, and I am now, for the newborn screen, for the caring and knowledgeable nurses and doctors, and for the medicine that keeps Rowan alive day after day. We are also thankful for the sup-port from organizations like the Magic Foundation and Adrenal Insufficiency United. Once again a new year has started, and with it, feelings of hope and resolutions and starting over. Here’s to Rowan’s sec-ond year, and a happier and healthier 2015!


McCune-Albright Syndrome (MAS) Division News

Kc SheehanConsultant for MAS/FD and Affected Adult

We recently took a trip to Mayo Clinic in Rochester, MN to schedule my next RFA (radio frequency ablation) for my head/neck. They have been going pretty well. This will be my third ablation so far. They seem to be working wonders for the pain I was having in my neck. I have a little nerve pain from them but nothing compaired to the pain I was hav-ing before the procedure. They are supposed to last 6-9 months mine are working right around 5-6. I still get some break through pain during that time if I overdue anything but for the most part they really do improve my pain. My hip is still hanging in there. I have my rough days, oh boy do I. But knowing the limits of what I can do and shouldn’t do is very important. In the mean time I have been enjoying spending time with my one and a half year old neice. Not to long before I won’t be able to keep up with her. My husband and I also have taken to racing R/C cars. A new hobby that I can do and enjoy. We all have to find a hobby that we can use to express ourselves and use an outlet for stress. I get to go smash up little remote control cars roughly once a week, as long as i am feeling up to it. Have met a lot of good people along the way as well.

I hope to see many of you at the convention in July and until then feel free to look us up on facebook at Life with McCune-Albright Syndrome or Fibrous Dysplasia. Also if you would like to share your story or your child’s story in the newsletter please contact me to do so at [email protected]

Camryn’s Story-Camryn’s journey with Fibrous Dysplasia began on July 30, 2005 when she was only 5 years old. It was a warm Saturday, so we decided to go out onto the back deck to enjoy the sunshine, just like we had a thousand times before. Only this time, when my daughter laid her head in my lap and opened her mouth to speak, I noticed a large, hard mass on the roof of her mouth. As a nurse, I am trained to notice these things. Abnormalities. And I am trained to immediately run through my mind all the possible diagnoses associated with such an abnormality. But on this day, I wasn’t nurse. I was mom. And therefore, I pushed any and all thoughts of medical conditions out of my mind. Since she wasn’t in pain and had no fever or other signs of an acute process going on, I waited until Monday morning to call the doctor.

I remember the bewildered response from the secretary at the pediatrician’s office when I told her I needed an ap-pointment because my daughter had a mass on her pal-ate. I remember the trepidation I felt as I entered the of-fice. How I wanted to be anywhere but there at that very moment. How it all seemed so surreal. It was like the nurse in me was trying to tell me that there was something ter-ribly wrong, but the mom in me had decided denial was a much more appropriate coping technique at the time.

The next few hours seemed to take forever, as we waited to get the results of the CT scan at our small, rural hos-pital. The staff looked quite sympathetic by then, with puppy dog eyes and long faces, but I still allowed mom and denial to win the battle. When her father and I en-tered the back room and her scans were hanging on the wall, I could no longer rely on the denial that had gotten me through those past few days. It was like a ton of bricks smacking me in the face. There, up on the light screen, was my daughter’s CT scan, with a baseball sized dark mass right where her left sinus should be. “Camryn has a bone tumor called ossifying fibroma (the wrong diagno-

sis). She needs to have surgery to have it removed right away...” the pediatrician’s words trailed on, but I could no longer comprehend them. I hardly heard anything past the word “tumor.” I was crushed. I just wanted to leave. I composed myself before leaving the room so Camryn wouldn’t see me upset. She was a sensitive child and I didn’t want her to be scared.

The next day was Camryn’s 6th birthday and instead of celebrating, we were traveling an hour and a half to have a consult with a doctor from Maine Medical Center, the largest of hospitals in the state of Maine. He told us the tumor was probably a dental tumor of some type, and acted as though it was no big deal. My husband asks if he has seen this type of tumor before. He answers, “Oh, yes. I see this all the time.” Hmmm, we both wondered. Then he added that they would need to do a biopsy to be sure. I immediately felt uneasy.


There was a part of me that knew from the moment she opened her mouth that this was a BIG DEAL, but I had been pushing those thoughts way down into the farthest parts of my mind. But a mother always knows and I knew then that he was wrong. When we got home, I called the pediatrician and told him I got the feeling that this doc-tor wasn’t right for us. The pediatrician told me he had already spoken to a colleague and had made a refer-ral to a well-known physician at Massachusetts General Hospital. Later that day, the Maine Medical doctor called me personally to tell me that he was wrong. He said that her tumor was much more serious than he had originally thought and after looking at her scans in more depth, he recommended that we go to Massachusetts to seek care. He had taken the liberty to arrange a consult for us. I told him that we had already set up a consult with Mass Gen-eral so he could cancel the appointment that he made. I thanked him. He is redeemed in my eyes. The true mea-sure of a good physician isn’t that he/she knows it all; it’s that he/she can admit when they don’t, and offer sugges-tions so that we can get the care that we need, even if it isn’t with them.

Two days later, we travel 4 hours to Mass General to see a maxillofacial surgeon. We get lost on the way. The hospi-tal is massive and there are people everywhere. We wait a long time to actually see the doctor and when we do, we notice he comes with an entourage. Assistants, residents, and other staff follow him like ducklings following their mother. He tells us he doesn’t know what the tumor is yet, as there is no way of knowing without a biopsy. We sched-ule a surgery for the following week. The next days are all-consuming with phone calls, messages of sympathy, and offers of help. We ask people to pray that this turns out to be something that can be cured. We stay positive for Camryn. We call the tumor her “bump.” We decide to make a home video of the surgery and hospital stay, and title it, “Camryn’s Bump Movie,” which closely resembles one of Camryn’s favorite videos, “Piglet’s Big Movie.”

On August 11, 2005, Camryn had her first operation. We waited impatiently for any news about our little girl. The doctor came to the waiting area to tell us that the biopsy results revealed it was Giant Cell Carcinoma, and they did not remove any of the tumor. She would need Interferon, a type of chemo that is given by injection once daily for a year. After that, they tell us, there is usually cure. Camryn was in the hospital for 3 days. She was very swollen and couldn’t eat because her incisions were all in her mouth. She needed IV fluids and IV medication. On the third day, she finally agreed to drink a little and we were allowed to go home. Up to this point she hadn’t seen her face. She was too little to see her reflection in the mirror of the hos-pital bathroom. We got lots of stares as we left the hospi-tal. Everyone seemed curious as to what was wrong with the little girl with the swollen and bruised face. It was un-clear if Camryn noticed this. On the way home, Camryn needed to use the bathroom. We stopped somewhere and as soon as we walked into the bathroom, my biggest fear came true. A mirror the entire length of the wall, ex-posing her face. I hadn’t prepared Camryn for this. In my effort to protect her, I failed at preparing her for the re-ality of her appearance. I knew it was a temporary side effect of the surgery. She thought this was her reality for

a future. I can’t describe in words the look on her face in that moment. She was crushed. I tried to console her. It won’t be like this for long, I told her. It didn’t matter what I said. To her, she looked different, and that was all that mattered in that moment. 8 days after her operation, the surgeon called. He said the final biopsy results came back and Camryn did not have a giant cell tumor after all. A wave of relief swept over my body. Then he said this: “The good news is, it is Fibrous Dysplasia. The bad news is, it is Fibrous Dysplasia.”

The plan was to watch and wait, and that’s exactly what we did for the next year and a half. The tumor was still growing, but we wanted to delay surgery for as long as possible. We knew that she would need several opera-tions in her life and the longer apart we could get them, the better. We tried to live as normal as possible, despite frequent doctors appointments three states and four hours away from home. By January of 2007, we couldn’t wait any longer. Camryn could no longer breathe out of her left nostril because it was completely obstructed and her palate was really deformed. At this point, the FD was just in the left maxilla. She needed two operations in five days. The first was to reconstruct the palate and nasal air-way. Unfortunately, there was a complication extubating her after surgery and she had to spend some time in the Pediatric Intensive Care Unit. Though the tumor will not directly take her life, surgical complications are always possible. The second surgery 3 days later was to remove an oral stent that they had wired to the roof of her mouth.

Over the next 2 years, Camryn continued to have prob-lems caused by the FD. It is no longer just in her maxilla. It has crossed suture lines and has invaded her left zygoma and orbit. Her eyesight is becoming affected and she has double vision. She is starting to have frequent (almost daily) pain on the left side of her head. The pain became routine; Camryn would wake up in the middle of the night with pain in her left temple or back tooth and come wake me. We would go downstairs to get ibuprofen. We had a prescription for a stronger narcotic pain medication, but didn’t like the idea of giving morphine to an 8 year old. In March of 2009, she received her first dose of Pamidronate. It was supposed to help slow the growth and decrease the pain. She had a pretty bad reaction from that first dose. She was feverish and had pain all over her body. The plan was to receive two days worth of infusions, and since we lived so far away, we had to go down the first day, get the four hour infusion, keep the IV in, go to a hotel, and come back the next day for another round. This routine took place every 3 months for a year. Although the Pami-dronate did help with the pain, the tumor continued to grow. And by the summer of 2010, we could no longer put off another surgery.

On August 18, 2010, Camryn had her fourth surgery. This one would be the most complicated to date. They would be de-bulking the tumor, reconstructing the nasal airway (it had obstructed again), contouring her left cheek, and then reconstructing her orbit. The tumor had been push-ing the left eyeball up and out of her head and had really affected her vision.


An oculoplastic surgeon from Mass Eye and Ear Infirmary would join the other surgeons in the operating room once they were done with the nose and cheek. Camryn was un-der anesthesia for over 8 hours. She had lost a lot of blood and had already received one adult unit (2 pediatric units) of blood donated by her dad in the OR. This was the sec-ond time that her father’s blood had been infused into her, and we dubbed him, “Super Dad,” claiming he saved the day and also her life. They didn’t have time to do the pal-ate reconstruction, so it was decided to do that at a later date. Despite an enormous amount of swelling and also having to have a nasal trumpet inside her nose for a few weeks after the operation, Camryn was still determined to start school on time. On August 29th, she started her sixth grade year (the first of Middle School). What a trooper!

On December 21, 2010, another operation was needed to correct a defect with the eyelid caused by the orbit sur-gery. This was her fifth trip to the OR. Because this was a day surgery, it seemed like a piece of cake compared to the other operations.

On July 11, 2011, Camryn had her sixth surgery to cor-rect the deformed palate caused by the massive tumor growth. It seemed like whenever an operation was done to correct one area, the FD just grew in the opposite direc-tion. The swelling was much less this time around, which was a huge relief but we were extremely disappointed to learn that two of her front teeth were chipped during the extubation. So a couple of weeks later, we headed back to Boston to have a composite attached to the broken teeth. A plastic stent was once again wired to her palate, but since she was older, she was able to have the removal in the office rather than the OR. Soon after this operation, she started the second type of bisphosphonate, Zometa, to again try and slow the growth and help with the pain caused by the rapidly growing lesion. This medication was given IV in one day, so we didn’t have to stay overnight in a hotel. She only got two doses of this, six months apart, and it was apparent that it was not working at all to decrease her pain or slow the growth, so it was discontinued.

On December 18, 2012, Camryn is back at Mass General for the seventh operation to debulk the tumor, recontour the cheek, and reconstruct the nasal airway. This was the third time that her nasal airway had been so obstructed that she could no longer breathe through that side. I am reminded of the first time we saw an ENT (Ear, Nose, & Throat) doctor when she was 9 years old at Mass Eye & Ear Infirmary. After the doctor was unable to insert a neonatal endoscope into her tiny nasal passage, he advised us to avoid surgery for as long as possible to preserve the cilia and other struc-tures in the nose that make it function normally. And now, here we were, having to drill another new airway so that she could breathe. I am thinking breathing outweighs cilia at this point, but now there would be a new worry to add to the ever-growing list: no cilia to prevent dirt, particles, and germs from entering her lungs. Her face has been completely numb on the left side since the second opera-tion, so she can’t feel sensations such as wetness or cold. Her left nostril runs clear drainage almost constantly, and she can’t feel that it is wet. This is a bothersome side ef-fect of having multiple surgeries on her face. No teenage

girl wants her nose running without even being aware of it. Her scans show the growth impeding on her right side, too, and it is amazing that she can breathe out of her nose at all. She recuperated pretty quickly from this operation, and was able to return to school after Christmas break.

Less than 2 weeks later, Camryn was started on the third type of medication in an attempt to slow the growth and decrease the pain. Denosumab is a little different than the two bisphosphonates she had tried in the past. It acts by binding to and inhibiting RANKL, leading to the loss of osteoclasts from bone surfaces. It is given by subcutane-ous injection and I am able to give her the injections at home. Camryn needs to go to the hospital every month for labs, and if they are within normal limits, she can re-ceive the injection every four weeks. She has been getting this medication monthly ever since. Her tumor growth has slowed and the pain episodes are few and far between. We are hopeful that we don’t see side effects in the future from so many doses of this drug, but if we do, we’ll take it as it comes. Camryn would say it’s just another hurdle, just another obstacle to soar over. She’s had many hurdles in the past and she’s proven that she can get over whatever is in her way. She would say, “It’s in those moments, the moments when I’m leaping over the highest of hurdles, sometime I jump high enough so that I can see the sun in the distance, enveloped in a sky of blue.”

Despite all the surgeries, complications, and medical treat-ments that Camryn has endured over the 9 years since her diagnosis, she still leads a relatively normal teenage life. She is a very active Sophomore in High School. She is an honor student, taking very rigorous courses, some well above her grade level. She plays soccer and is hoping to do track this spring. She was unable to participate in track last year due to some hip pain issues caused by a prior in-jury to the area. She is active in drama and participates in school theater productions, one act plays, and community theater. She is on the math team and envirothon team and is a member of the Robotics team. She is a talented writer, singer, and artist. Most recently, she performed with sev-eral celebrities at a fund raising gala for The Hole In The Wall Gang Camp in Ashford, CT.

You can follow Camryn’s journey, by liking the “Camryn’s Journey with Fibrous Dysplasia” page on Facebook.

Documents

Growing Times Spring 2015