growing times summer 2016

8/15/2019 Growing Times Summer 2016

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Growing imes

For program information and

registration for this year’s annual

convention, visit:

www.MAGICFoundation.org

Tanks o Our Fundraisers!MAGIC Foundation thrives because of the eorts ofso many incredible people who raise funds. Thanksto all of the wonderful people and their eorts togrow theMAGIC

Foundation around the country.

Summer 2016

MAGIC Foundation’s Quarterly Newsletter

eam MAGIC...0

Registration Now Open for the 2016 MAGIC Convention


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Table of Contents

• Arnold-Chiari Malformation: Michelle Scognamig

• Chronic Renal Insuency: Lola Fortier• Down Syndrome (re: growth): Linda Blevins

• Disorders of Sexual Dev.: Ellen Jones

• Graves Disease: Sharon McHugh• CAH: Lisa Hughes

• Central Precocious Puberty: Sonya McTillman• Cushing Syndrome: Jackie Edgar

• GHD Children: Teresa Tucker• GHD Adults: Randy Fishburn

• IGFD: Jamie Sorensen

• Hypophosphatasia: Tracy Porreca• Jeunes Syndrome: Erica Rieger

• McCune-Albright Syndrome/Fibrous Dysp: Tamara Gordon

• Panhypopituitarism: Janet Meehan• Russell-Silver Syndrome: Dayna Carney

• Schwartz-Jampel Syndrome: Rani Elway

• Small for Gestational Age: Megan Donnell• Thyroid Disorders (Hypo): Blythe Cliord

• 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 TheMAGIC Foundation

TheMAGIC Foundation is a charitable non-prot organization created to provide support services for the families of children

aicted with a wide variety of chronic and/or critical disorders, syndromes and diseases that aect a child’s growth. Since itsinception the Foundation has grown to include support services for adults who were also impacted by these disorders. Ourcommitment 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 [email protected]

Pam Pentaris Oce Manager

[email protected]

Jamie Harvey

Co‐Founder [email protected]

Teresa Tucker,

Co‐Founder, Patient [email protected]

Stacey HerholdInsurance Appeals Specialist

MAGIC Foundation for Children’s Growth

6645 W. North AvenueOak Park, Illinois 60302

Ph: (708) 383‐0808FX: (708) 383‐0899

www.MAGICFoundation.orgFacebook.com/MAGICFoundation

Parent Help Line:

(800) 3MAGIC 3

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

MAGIC Convention- Save the Date..............................................................................3

Russell-Silver Syndrome (RSS) Division News..............................................................4

Hypophosphatasia (HPP) Division News.......................................................................6

Central Precocious Puberty (CPP) Division News.........................................................9

Panhypopituitarism (PAN) Division News...................................................................11

Optic Nerve Hypoplasia (ONH)/Septo Optic Dysplasia (SOD) Division News...................13

Thyroid (THY) Division News........................................................................................16

Small for Gestational Age (SGA) Division News...........................................................19

Congenital Adrenal Hyperplasia (CAH) Division News................................................23

McCune Albright Syndrome (MAS) Division News.......................................................25

Donations & Fundraising...........................................................................................28

Growth Hormone Defciency (GHD) Division News.....................................................29

Idiopathic Short Stature (ISS) Story..........................................................................30



MAGIC CONVENTION 2016- REGISTRATION NOW OPEN

www.MAGICFoundation.org/2016-MAGIC-ConventionJuly 21 - 24, 2016 in Lombard, IL (Chicago area)

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.• Kathryn Dahir, M.D.

• Lawrence Deeb, M.D.• Jill Fahrner, M.D., Ph.D

• Mitchell Gener, M.D.• Mitchell R. Goldstein, M.D.• Madeleine Harbison, M.D.

• Peter Lee, M.D.• Richard Levy, M.D.

• Kurt Midyett, M.D.• Bradley Miller, M.D., Ph.D

• Irene Netchine, M.D.• Katrina Parker, M.D.• Dorothy Schulman, 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, DaleMurphy, Jennie Snoply, Allison Andrews, Margaret Burke,

Terry Gith, Sarah Grith, 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 Cliord• ISS: Lori Cowherd

• IGFD: Jamie Sorensen• MAS/FD: Russ Hazael, Rita Jaskoli

• ONH/SOD: Martha Michals• 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: Lisa Hughes

• Growth Hormone Deciency in Children: Teresa Tucker• Hypophosphatasia: Tracey Porreca

• Hypopituitarism: Carrie Cagney

• Idiopathic Short Stature: Rachel Hemmelgarn• Insulin-like Growth Factor Deciency: Jamie Sorensen

• MAS/FD: Tamara Gordon• ONH/SOD: Martha Michals

• PAN: Janet Meehan, Erin Connors

• Precocious Puberty: Sonya McTillman• RSS: Sara Bissonnette, Stephanie Scott, Jodi Zwain

• Small for Gestational Age: Megan Donnell• Turner Syndrome: Cindy Fraser

• 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


Summer is almost here! I am always so excited for summer to arrive since it means Iwill get to see many of you at our upcoming convention! Some for the rst time andmany returning familiar faces! Megan and I have worked hard to bring you a selection

of presentations on Friday to meet your needs! We have speakers for new families andreturning, newly diagnosed and even those not new to this rodeo! Whether your child is

young or older, we hope you nd many useful opportunities to expand your knowledgeand support system! I hope to see you all there!!

I’d like to thank those willing to share their personal stories with us this month. The jour-ney seems so much more doable when you can see the light at the end of the tunnel!May their experiences help you navigate yours!

Finding the time and energy to make good healthy meals is never easy, but can especially challenging for oufamilies. Be sure to check out Emily Barker’s recipes at the end of the section. As a parent to an RSS son, Emily

is eager to help us do just that!

Dayna CarneyConsultant for

RSS and Mom to

Alyssa(RSS)

Tamera’s Story

June 2, 2006. We are heading to a baby shower mydaughter Amanda is throwing for her sister. Aman-da’s phone rings. It is Katherine from the adoptionagency. There is a baby girl. Born May 27. Amanda isso excited. Katherine is worried for Amanda becausethe baby is only one lb. 11 ounces. She has no ideawhat her prognosis is. It sounds heartless but Kath-erine reminds her there is no money back guarantee.Amanda needs to be very sure before she proceedswith this adoption.

The next morning Amanda and her husband go tothe hospital to see the baby and speak with the doc-tors. They sign the papers at 3 o’clock that afternoonand Eliana is the newest member of our family.

She is doing great. Only ve days on the vent. Nobrain bleeds. She is gaining weight and growing.

The birth mother did not know she was pregnant. They believe Eliana was 25 weeks based on thebaby’s size at birth. This is somewhat puzzling be-cause a baby at that gestation would normally be

on the vent much longer but we don’t give it muchthought. Eliana is in the NICU almost four months.We can’t bring her home until she hits four poundsand that seems to be a huge hurdle.

When she nally comes home we realize what astruggle it is to feed her. She vomits several times aday. She gains weight so slowly. We see our pediatri-cian who is concerned with her lack of growth. Wesee a gastroenterologist who is concerned with thevomiting. There are other issues. Her development isvery delayed. She turns a year old and weighs only

12 pounds. She still doesn’t sit up by herself.

She is so cute though. Everyone comments on herlittle “pixie” face and how tiny she is. Everything istiny.

By the time she is two we are keeping endless dia-ries of every calorie we get into her. Of course thenwe have to subtract everything that comes back

out. We are lucky to get 500 calories a day. Less thanhalf what the doctor wants. We are pros at catchingvomit. At a restaurant my daughter and I can grabnapkins, catch vomit in our hands and clean up thebaby without even a break in our conversation. Bynow Eliana hates us. All we do is follow her aroundwith bottles and beg her to drink. She clearly doesnot want them and eating seems to make her so un-happy. She is so small. 17 pounds. She still does notwalk. My daughter is endlessly searching the inter-net. Trying to nd something that might explain herdaughter.



Two years, two months. She nally begins to walk. Itis amazing to see this tiny little thing walking on herown.

We are referred to a geneticist. She looks Eliana overand pronounces she has FAS. Fetal Alcohol Syn-drome. We don’t believe it. She is too smart. The birthmother lled out a health history and admitted shedid meth. But for alcohol she said no. Why would you

admit to meth but say no to alcohol? It doesn’t makesense. We are still searching for an answer.

The GI has decided Eliana needs a G-tube. She is not gain-ing enough and her development is falling further be-hind. She has surgery for the G-tube and a fundoplicationto help with the GERD. We celebrate her third birthdaywith a brand new g-tube. She rarely throws up now dueto the fundoplication. The doctors aren’t really searchingfor a “reason” anymore. They are happy with her progress.We still want to know “why”. There has to be somethingelse going on.

One day while looking on the internet my daughter ndssomething called Russell Silver Syndrome. All the piecest. Eliana has the triangular shaped face, the curved pin-kies, the crossed over toes. All her feeding problems ttoo. My daughter thinks she has nally found the answer.We need to see an endocrinologist. We are on waiting listsfor the only two endos in our town. We never get called.We nd out later that since the geneticist put it in our re-cords that she has FAS no one will see us. It is now May.Amanda is still searching the internet. There is a doctor inNew York who specializes in RSS. We can see her for free inJuly if we go to Chicago for the RSS convention. We make

plans to go.

By this time the doctors here have us feeding her highcalorie formula and have gotten her BMI up to 18.4. Theyare quite pleased with themselves. When we get to Chi-cago, Dr. Harbison is appalled. She almost dismisses theidea of RSS based on the way Eliana looks. Then Amandapulls out her iPad and shows her pics prior to the G-tube.Dr. H takes another look. After three years of mystery andfrustration Amanda hears the diagnosis. RSS 11p15.

We immediately start getting her BMI under control. Shestarts growth hormone shots. We are so relieved to know

there is a plan for her care. Since then we see a local endo.Yes, we were able to nally get an appointment when wesent them Dr. Harbison’s diagnosis. She didn’t know thatmuch about RSS but she has followed Dr. H’s protocol andhas reached out to her whenever she didn’t understandsomething that was going on. We see Dr. H at the conven-tion every year or two.

Eliana is amazing. She will be 10 next month. She still getsher GH shot every night. She still has her G-tube. Last No-vember we added a Lupron shot every three months. We

need to hold o puberty as long as we can. She is current-ly four feet, two inches tall. We have every condence shewill make it to ve feet. She does gymnastics, snowboard-ing, swimming, and diving. Everything any girl her agewould do. She has many friends. She has won author ofthe month at her school for her short stories. She knowsall about RSS and how it impacts her life. She accepts itwith such grace. She has so much empathy for anyonewith special needs. She has the biggest heart of anyone I

have ever met. I am in awe of her.

Project Pants for Peanuts: My daughter, Daphne (pic-tured), is SGA. She has been itty-bitty since day one. Find-

ing pants that t her weren’t a huge problem until shestopped wearing diapers. I dread each winter season,wishing I could just go to the store like every other parentand buy her pants. Instead I make pants for her myself.Adjustable just pants just aren’t cutting it.

My solution: Project Pants for Peanuts. I am in the begin-ning stages of starting a line of pants for kiddos like ours.As fellow, MAGIC Foundation parents, I am asking for yourhelp by gathering data with your child’s dimensions. Ifyou would please, take the time to ll out this short sur-vey (link below). With your participation, Pants for Pea-nuts could become a reality!

http://goo.gl/forms/gLHMaOb3n4

It is my goal to alleviate at least one of many hurdles weface as parents of children with medical problems. Cloth-ing should be fun to shop for, not stressful!

Thank you for your time and support!

Warmest Regards,Natalie Origanti



Hypophosphatasia (HPP) Division News


Tracey PorrecaConsultant for

HPP and Mom to

Nicholas & Cassie

Hello! My name is Tracey Porreca. I am the Hypophosphatasia Division Consultant for the MAGICFoundation. Over 20 years ago when my son was diagnosed with Hypophosphatasia (HPP), theMAGIC Foundation helped start the rst support group for this disorder. My daughter and I werealso diagnosed and at that time, I was able to network with many families. Support groups areimportant to families dealing with complex medical issues and I’m glad MAGIC is here for our

HPP families!

The 2016 MAGIC Foundation Convention is Coming Soon! Those who have attended our annualnational convention in the past can attest to it’s caliber – leading experts in HPP and other spe-cialties will be gathering to provide information, and MAGIC has a wonderful program whichis geared toward supporting families dealing with the disorder. Dr. Robert Hopkin, geneticist,will be giving our main HPP lecture. Dr. Mark Cannon will be dealing with dental aspects in HPP.We will have an aquatic therapist giving a poolside demonstration on various techniques to im-prove strength and reduce pain. We will also have a working group where YOU get to participate, have one of the lead-ing HPP physicians listen, and give your input on your concerns and what matters in HPP. Finally we will be talking aboutsupport services and case management. Other programs available to all attendees include a sibling support discussion,as well as a national motivational speaker. Kid’s activities, professional day care, and fun networking opportunities

round out a fantastic program. You won’t want to miss this! Visit our website at this link for more information: https://www.magicfoundation.org/2016-magic-convention/ And email me (Tracey Porreca) at [email protected] before you register if you’d like to attend, for some important information. If you’re not able to email me, you cancall the main oce at 1-800-3MAGIC3 and I can call you!

Tracey Doyon: Our Story

We wanted to share our journey of identical twin girls thatboth have two rare genetic diseases. Symptoms of chronicasthma started after 6 months and requiried multiple hos-pitalizations. They had frequent pain from gas that neverlet them or us sleep. This was followed by both losingteeth before they were 2 years old and frequent bone/

joint pain. It has been a curvy road to get the correct diag-nosis of their various symptoms and learned of additionaldiseases they have. We now know that it will be a long andbumpy road.

Having said that, we have much to be thankful for. First,we have the bravest of warriors with the ability to endurehours in the car to constant appointments fearlessly ac-cepting pokes and procedures with a certain style thatamaze all who care for them.

We hope to spread awareness and bring more light tothese diseases, especially since both are not always obvi-ous.They are identical mirror twins who overcame all oddsto survive their arrival.

Isabella & Julia were born at 35 weeks and 6 days. Broughtinto this world through an emergency C-section after theplacenta was ruptured when they tried to break my water

due a condition I had called Vasa Previa, which for mostbirths is a 99% mortality rate. We would not have had thesame outcome had I not already been at the hospital inlabor and the doctor having been right in the room. Theywere intubated, required blood transfusions and placedinto cooling therapy to reduce swelling in the brain. Thosewho helped deliver them went home at the end of theishift not sure they would survive. After they were doingwell, the delivering doctor had told us that they were whiteas the hospital sheets due to their loss of blood and theirdelivery was scarier than anything she had experienced.

They were ghters from the beginning, extubating them-

selves within 12 hours. Hypothermia Therapy lasted for3 days. They were 3 very long days still not having heldour babies even for a moment yet. After a week they weremoved from the NICU to the CCN and for the rst time theywere near each other again. We stayed in the CCN onlyanother week and we were able to go home on Thanksgiv-ing. All were so amazed at their quick recovery and themiracle that MRI’s show no obvious indication of long termcomplications. The lack of oxygen to their brains causeda HIE [Hypoxic-Ischemic Encephalopathy, which is still no-table on their recent MRI’s. This lack of oxygen can oftenlead to more serious eects, like cerebral palsy.



Within the next year asthma becomes an increasingproblem. By the end of 2011 it was a chronic issueand in 2012 Julia and Bella had been admitted to thehospital a total of 10 times (2 times Bella was movedinto PICU), in addition to countless ER trips and pro-

cedures. While there had been some mild delays intheir development, nothing had been a huge con-cern given their birth history. At about 14 monthsold they started walking and running and within afew months the pain started in Julia’s hip. She wouldhave episodes of not wanting to run or jump andat times was in obvious pain. Within a few moremonths their legs were hurting both of them everynight. They also both started losing teeth that year.Julia was the rst during a visit in the hospital. Sheripped it out with her blanket and had to search thewhole hospital room to nd it. I wish it were funnythat not one person was piqued with interest in mypointing out the tooth was whole with the root stillintact.

After xrays taken for her hips show dense bones, weare on a year and a half long misdiagnosis of Osteo-PETROSIS {hard bones} while we run genetic tests foreach gene they know of for that, only to conrm it isnone of them. Thankfully our geneticist took no timeto get the next step going quickly, as she already hadlearned how persistent I was from my follow-up forresults from each test done. Exome sequencing wasstarted in October 2013 and results nally came back

in May 2014 which established a total opposite di-agnosis of HPP Hypohosphatasia, a metabolic bonedisease and means they actually have soft bones,though our geneticist wasn’t convinced it was severeenough and felt more comfortable diagnosing themwith a milder form called Odontohypophosphata-sia. This new diagnosis was additionally conrmedby bone marrow biopsy results that were receivedthe very same day as the exome sequencing, whichindicated her bones are not hard but soft and thereare bony islands and cartilage where there should bebone and considered it to be a lack of mineralization.

Quite remarkable to be able to be so sure but I stwanted conrmation. Within days I emailed the pthologist that reviewed her biopsy and requested hconrm this diagnosis would t his ndings, whiche did. Months later in trying to convince the gneticist to correct her diagnosis, she said that shwould have to get conrmation from the pathologist. Thankfully, I was able to provide her with a cop

of my email I had from him and she quickly correctethe diagnosis.

The next year was spent both seeing specialists lcally and in Boston with very little support to deveop a plan on how to care for them with this diseasMost had not heard of it or took the approach thathere is nothing to be done until they break boneor can’t walk. Meanwhile, I continued searching fsomeone who knows about this disease and cahelp us navigate through it. It was very dicult the beginning, doing my own research and reaching out to those who I hoped might know. Final

Facebook was crucial in making connections to thright people closer to me thanks to support groupthat are out there. We now have an endocrinologiabout 4 hours away that is treating a few patienwith this but more importantly, she has been fantatic and wants to learn more about it.

HPP [Hypophosphatasia] is an ultra-rare genetmetabolic disorder {severe forms are 1 in 100,00that the bones, teeth, liver, kidneys & brain. Due ta mutation to one (everyone has two) of the ALPgenes, calcium and phosphate are not processeproperly so the bones are soft. The bones are sodue to the lack of mineralization. Ironically their sobones actually appear ridiculously dense on botxray and DEXA bone density scan and therefore havprovided a false result. Symptoms they have are curently mild and often misdiagnosed as other thingchronic asthma (congenital), gas issues, bone pai

joint pain, weakness and lack of endurance, gait isues and the telltale early tooth loss with roots intacMore severe cases endure frequent broken bonebone growth issues, brain involvement or may noeven survive through birth.

Currently for this disease the girls go to physical theapy weekly, wear AFO braces at night and one has othotics to stop the rolling ankles. The asthma is cotrolled by typical asthma medications and frequenoral steroids and albuterol in order to keep them oof the hospital. Change in the diet to limit calciuand phosphate have improved both bone/joint pabut more importantly the constant stomach acheonly happen once in a while. This has thankfully improved their sleep a bit.



My husband and one of our older daughters also haveHPP and both have some mild symptoms with overallpain that will continue to be monitored.

This progressive, life-threatening disease has no cure,but nally an enzyme replacement therapy treatmentcalled Strensiq™ (considered to be a breakthroughtreatment) was just approved through the FDA in Oc-tober 2015. After 3 months of ghting with our insur-ance, they started these treatments in February andreceive injections 3 times a week.

TSC [Tuberous Sclerosis Complex] is also a rare, life-threatening genetic disorder {1: 12,500} in which tu-bers or tumors can grow in all of the major organs(Brain, heart, liver, kidneys, eyes, etc).

After it was conrmed through the exome sequencingthat they also have the genetic mutation for [TSC 1] wehave been able to get baselines to conrm there area couple of lesions and areas of concern that we will

continue to monitor. We are fortunate to be aware ofthings to come before symptoms of seizures or severedevelopmental delays appear.

Currently for their behavior, processing and sensory is-sues, they are going weekly for OT & Speech Therapy.

They also have a very disrupted sleep pattern and areup 3-4 nights a week. Their TSC1 mutation is new andonly the two of them have this specic mutation.

The exome sequencing also uncovered a third ge-netic mutation for Marfan Syndrome/TAAD, which canalso be life threatening and mostly eects your heart

and eyes. This is a bit more common of a disorder {1:5,000} that aects the body’s connective tissue whichprovides the strength, support, and elasticity to ten-dons, cartilage, heart valves, blood vessels, and othervital parts of the body including the eyes. One of thebiggest threats of Marfan syndrome is damage to theaorta, the artery that carries blood from the heart tothe rest of the body.

All baseline tests were done and currently there areno symptoms of this disease for either twin. They willcontinue to be monitored with eye exams and echo-cardiograms every couple of years for this, as well as

my husband who also has this mutation.

In addition to these in Jan. 2014 Julia was also diag-nosed with ITP [Immuno Thrombocytopenia Purpura]which is auto-immune blood disorder in which herbody destroys it platelets rather than the virus, whichcontinued to be chronic requiring 6 hospital stays overthe course of the next year. This is monitored with fre-quent lab work and she has managed to stay out of thehospital since Jan. 2015.

Needless to say we have busy weeks and sometimes

very busy days. I look forward to sharing our journewith all of its ups and downs and hearing from anyonwho wants to know more. We are also thankful to athe nurses and doctors who care and listen. The support groups found on Facebook that provide instanunderstanding and a medium to build friendshipare priceless. Please check out our website at wwwtwinslivestrong.com or the Facebook page TwinLivestrong.

Warm Regards, The Doyon Family

Contact

Now that the drug Strensiq has been approved, this an exciting time for all of us. But we are in unchartewaters. Some families have been able to easily accethe drug while others have been denied by their in

surance companies. MAGIC has an insurance deniaspecialist and she, along with myself and others, havbeen working hard to address denial issues for manfamilies. MAGIC is here to assist in any way we caPlease don’t hesitate to contact us if have questions oconcerns, or just need to chat. We’re just a phone caor email away. I’m always here to speak with anyonwho would like to ask questions, get advice and referals, or comment about our organization or programWe also have two wonderful Facebook groups, one being for adults and the other for parents of aected chdren. If you’d like to join one of the groups, we’d love thave you! Please read the instructions in the Faceboo

header about sending an email asking to join. Becauswe might not already know you, and because we wanour families to be able to communicate without worryou will be sent an email asking about your interesin joining our group. That’s it – easy! If you have anquestion, please don’t hesitate to contact MAGIC drectly, or email me at hypophos@magicfoundatioorg. The MAGIC Foundation annual convention is ona few months away so watch for information on that. you have questions or concerns, please don’t hesitatto contact MAGIC. We’re here to help and support yoin this journey!



Hello everyone and welcome to the Precocious Pu-berty (PP) section of our summer newsletter. Withsummer upon us my mind is on the kids being outof school, trips to the coast AND our 22nd AnnualMAGIC Foundation Convention! If you’ve never beento a MAGIC Foundation Convention you are in for awonderful experience! We have some of the coun-tries leading endocrinologists on board to guide usthrough all things related to Precocious Puberty. Wehave an informative line-up of sessions planned andI hope to see all of our PP families in Chicago in July.

On another note, the National Institutes of Healthis still conducting a research study on the genetic

relationships associated with PP. If you and yourchild(ren) are interested in participating, please feelfree to email me at [email protected] and I’llforward you the necessary information.

Our story this month comes from Regina (Gina) Bab-cock who is mom to a darling ve year old little girl.Gina shares with us their PP journey and how withan early diagnosis, they have found success thus farwith a naturopathic route! Have a wonderful summereveryone!

Regina’s Story

Greetings! My name is Gina and we are just beginningour journey with Central Precocious Puberty (CPP).My daughter is ve, soon to be six this summer. Wenoticed in January of this year that our daughter wasgoing through some changes to her little ve yearold body. First of which were emotional symptoms...aggressive mood swings followed by the physicalsymptoms of growing of breast buds relayed to thismama that something was amiss. I thought for sure itwas probably some sort of uke hormone uctuationso when our pediatrician referred us on to a pediatricendocrinologist, I was shocked by the probable diag-

nosis. I had never even heard of precocious puberty!Of course all of the testing associated with Preco-cious Puberty followed. By March we had our bonescan done, ultrasound nished, hormone stimulationtest completed, and an MRI checked o the list. Shewas such a trooper!

All her testing concluded that she had Central Preco-cious Puberty and that her young body was in thevery beginning stages of puberty. Her condition, likemany other children with C.P.P, came back with noidentiable underlying cause.

At this point we had to decide if we were going totreat her with and the Lupron Depot or the SupprelinImplant, both of which are treatment protocols forchildren with C.P.P. Our endocrinologist was so sup-portive and thorough when informing us of all ouroptions! From there, we had to meet back with herto follow up with testing results and to discuss ourtreatment path. The plan was to start treatment byearly April. However, when we met we were greetedwith some unexpected, yet welcomed news. Before share, let me backtrack.

During the whole process of testing we also wentto see a Naturopathic/Holistic doctor in our area.

She gave us some advice and protocols to help ourdaughter in her early puberty journey. Some of thesechanges included: diet restrictions, supplements, de-toxing xenoestrogens, and a make over of some ourhousehold products. It was during this time that wenoticed that her symptoms were not progressing. Infact, in some ways, they were dissipating! Thereforewhen we went back to the endocrinologist in Marchshe actually postponed treatment. This is not to sayor to assume that our battle is over and that her C.P.Pis gone for good.

However, we are closely monitoring her and will con-

tinue on with the implant if/when it is deemed nec-essary. And so this is where we are currently.....wait-ing to see what is truly next. We go for a follow upappointment in early June to reassess her symptomsWe have learned so much on this journey in such ashort amount of time. We know this is not Janie’s bat-tle, but rather, OUR battle. We are trusting Jesus forwhat lies ahead and will embrace what He gives. Heis a good Father and will see us through.

Central Precocious Puberty (CPP) Division News

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Shari Homan’s Run inCoral springs, FL

Fifteen runners ran for Team MAGIC in the run forWomen’s Health that took place in March, in CoralSprings, Florida. Thanks to Shari and Team MAGIC forraising $1,210.00! The following pictures are some last-ing memories from the event.



Panhypopituitarism (PAN) Division News Greetings and Happy Summer to all of our wonderful PANfamilies! We have all survived another cold and u season,hopefully without too many ER and pediatrician visits,and I’m guessing everyone is glad that warm weather ishere. The year is ying by already, and actually the YEARSare ying by as well.

Normally you’d see a Personal Story from a mom or dadhere about their child’s diagnosis and journey throughthis maze of a disorder. But this month I’m telling my Per-sonal Story, but from a dierent angle.

When I rst joined MAGIC, back in the late 90’s, my sonShea was barely more than an infant. He’d been diagnosedat the age of 12 weeks with congenital panhypopituita-rism, about which until that point I had known exactlyZERO. MAGIC gave me a connection to other parents thatI would not have otherwise had. Keep in mind, there was

no Facebook. There was no Google. No Yahoo. No Bing. There was no way to do any research on a computer easilyin your own home. There was an Internet, the World WideWeb, but it was in its infancy and compared to now, therewas next to nothing available.

I remember quite vividly researching and nding ‘papers’that could be ordered on panhypopituitarism. They werequite expensive, around $20 each, but I gladly orderedthem, only to be very disappointed when they arrived,only to nd they were research papers on clusters of chil-dren in say, England, 10 years prior, and were written insuch research and studies jargon that they were all but

meaningless to me. I don’t even think I kept them.

Now, this thing called Email was starting to catch on, butonly a small percentage of people had a computer, muchless an email address. So when I wanted to talk to anotherparent I had been linked to through MAGIC networking,I got out a pen and paper, wrote a letter, put it in an en-velope with a stamp, and mailed it. And then I waited acouple of weeks, at least, to get a response back. Look-ing back now, it’s hilarious, as people can post in real timeon Facebook about their child, who might be going intoan adrenal crisis, and get 15 responses within a minute ortwo. They can talk to 1000 families at a time with a single

post, and share photos, and get instant feedback.

If I wanted to send a picture of Shea to another PAN momI’d met, I had to take a picture with my Minolta camera,get the lm developed at a drug store, and then send apicture, IF the photo had come out ok, because you didn’tknow until you got the lm developed!As the years went by, technology continued to advance,and MAGIC started a Yahoo group for parents of PAN chil-dren. It still exists today, actually, and some of you manystill be in it, although it seems to be pretty quiet in recent

years from what I’ve seen, havingbeen eclipsed by Facebook. But Idigress. My involvement in that,which was run by my predeces-sor, got me more involved in gen-eral with this disorder, with otherparents who needs support, andwith MAGIC. When my predeces-sor stepped down from the Divi-sion Consultant job, I was invitedto step into that role, which I did. The year was 2008, and Shea was10 years old, about to turn 11. Wewent to our rst conference together, back when theywere held in Wheeling, Illinois. I felt like I didn’t know whatI was doing and I remember being worried that I wouldsomehow be a letdown to all of the families who werecoming from around the country. But it all went ne, al-

though I do remember being concerned about sendinghim o on the eld trip ‘alone’, given his medical condi-tion, until I remembered that ALL of the kids going on theeld trip had a rare medical condition and the chaperonesknew what to do in an emergency! He had fun, the ses-sions went o without any disasters, and people told methey learned something and were glad they came. I thinkthey were telling the truth.

As the years went by, I grew more accustomed to whatto do and how to do it, this Division Consultant role I hadtaken on… And Shea grew as well. Pictures from thosedays show him coming up to my shoulder. He now towers

above me at just a hair under 6 feet tall. And as the yearswent by, more babies were born just like him and the par-ents found their way to our group. Some had almost iden-tical circumstances and problems, others had the same di-agnosis but dierent paths to get there. But we all sharedone thing in common and that was the desire to be thebest parents that we could to a child with this condition.And in the early years, some days that meant just keep-ing our children alive. I’ve often told people over the yearsthat for the rst 5-6 years of his life, on every birthday, Iwould actually mentally congratulate myself for keepinghim alive yet another year. And he crashed so often thatI actually felt like I was being tested to do just that. As I

grew more experienced and a little more condent aftereach crash or episode, I realized I had the ability to helpother parents who were just starting the journey.

Janet MeehanConsultant for

PAN and Mom to

Shea(PAN)



And that’s what I love about being the DC because I remem-ber those early days when I didn’t know which way was up,and how I wished I’d had a group like we have now.

Over the years I have talked to many, many parents. Thereare too many to count. I kept a log in the early days, withdetails about each one, child’s name, where they lived, par-ent’s name, whether they were congenital pan or acquiredpan, and any other relevant details to help me keep them

straight. But I soon realized it was not practical or even pos-sible to keep up with that system, and besides, luckily forme, MAGIC has a database as well. I have talked to parentswhose children are still in the NICU, freshly diagnosed, somestill on ventilators and not even out of the woods yet. Oth-ers have been parents who are about to be released fromthe hospital but don’t feel like they even know what ques-tions to ask before they go.

I’ve been on the phone until 1am with a woman about toadopt an infant with panhypopituitarism, still in the hos-pital. She was looking for guidance on whether to moveforward, what this child’s life would be like, what it meantfor her life. Often times I have talked to parents who have

not been prescribed the emergency Solucortef injectionfor adrenal crises, even though they clearly need to be. I’dfeel good when I heard back from the parent saying they’dconvinced the doctor to prescribe it. I’d breathe a big sighof relief and I would sleep better. It is impossible to overem-phasize how much I have worried in the past 8 years aboutwhether everyone who needs to carry a Solucortef injec-tion actually has one. It became my mantra over the years– the one thing that would really get me on my soapbox, asyou may already know. You see, I’ve also talked to parentswho have lost children. I’ve even attended the funeral of achild who died. I’ve learned that each one of needs to bediligent and not become complacent about the severity ofthis disorder. But I’ve also learned to let my son live his life

and pursue his dreams like any other kid his age. Our natu-ral instincts are to protect them, but what they really wantand deserve is to just be ‘normal.’ After the death of one par-ticular toddler, which could possibly have been prevented,I stayed up most of the night putting together a layman’sguide to Panpit called Preventable Deaths. It can be foundon the MAGIC website. I hope it has helped and will helpothers explain to family, friends, teachers, caregivers, andyes, even emergency room personnel, what this disorder is,

what it means, signs, symptoms, and how to treat and manage it so that hopefully no tragedies occur again.

And so, with all of that being said, and an invaluable eighyears in this role behind me, I nd that it’s time to turn ovethe reins to the next generation, so to speak. Shea is 18 nowand fortunately he has stabilized, as so many of them seemto do in their teens, and to be honest, panhypopituitarism rarely mentioned or thought of around our house anymor

He takes his daily meds, we reorder when needed, but thatabout it. Luckily he does not crash easily these days, anhe seems to weather colds and illnesses with stress doseonly. So I can’t help but feel that it’s time to turn the reignover to someone who is more involved with this disordeon a daily basis. It is hard to believe now, looking back, thaI can say I’m not. And let’s face it. I’m no longer the parent oa child with panhypopuitarism. I’m the mother of a younman with it.

Erin Beamon will be taking over as the PAN Division Consutant. My tenure will end on September 30. Erin has been athis mothering of a panpit child task for several years nowShe is sharp and compassionate and, unfortunately for he

but fortunately for you, already very experienced at managing this disorder. I’ll let her tell you her own story, for thoswho may not know her, but suce it to say we have a lot icommon and our boys took very similar paths when thewere very young. They are even both middle children, witan older brother and a younger sister, all close in age. Thelook like my family did 15 years ago in many ways. She wmake an awesome Division Consultant.

I appreciate all of the support and friendships and knowedge I have gained in this position. It would not be an exaggeration to say that it’s been life changing for me. I have aentirely new perspective on what people can endure, anbear, and deal with, and cope with, and prevail over, an

conquer. I’ve seen what the human spirit can do. It is ststartling to me to this day that I have close friends, many owhom I have never met in person, from all over the globewhom I would not have ever met had my son not been borwith this specic defect. I will keep in touch. I’m not disappearing altogether, although I can tell you that you probably won’t see as much of me. Life goes on, my daughte(non php) is starting her senior year in high school ankeeps me very busy with all of her activities.

Thank you for letting me serve you for the past 8 years. Itbeen very gratifying (although not always easy!) on a pesonal level, and I hope I’ve made a small positive impacsomewhere, somehow. I wish you the very best on th

journey of life. Keep doing what you’re doing to raise thwonderful children who have been entrusted to you. Godspeed.

Janet



Taya Cook’s Story

Is something wrong with me? Well I’m sure I don’t need any-one to answer that because I am quite sure I am wrong onmany levels! But when it comes to the topic of my daughter Taya and her “issues” not being upsetting to me I know I amfar from wrong and I stand proud when I say I would not

change one thing about her!

Taya was my unexpected, expected daughter! We hadbeen told for years I was infertile, we tried Invetro, IUI andhormone treatments with no success. We nally decidedadoption was our next step while we were living in Fair-banks Alaska. We went through medical, mental, criminalchecks and did counseling with a private adoption agency.We also had to answer hundreds about what we would orwouldn’t want in a potential child. It was a private agen-cy we were going through that was going to run about$12,000 and would be the one and only time we could gothis route so we wanted a pretty healthy “normal” child. Wesaid yes to many of the questions and no to just as many.

We said we didn’t care about race, or if the child was an in-fant or younger kiddo, boy or girl didn’t matter and we didnot care if birth mom had mental illness issues, some drug,alcohol or tobacco use was ok. We didn’t want a child withany known serious health problems and we said we wouldnot adopt a blind child.

A young birth mom picked us almost immediately afterour packet was ready. We met her and her husband andtheir 2 year-old son when she was 8 months pregnant. Thevery same day the agency sent her to the doctor for herrst prenatal appointment. She was told she was carryinga baby girl! We received the ultra-sound pictures that dayand the young couple assured us we were the ones they

wanted to adopt this little girl! Sophia Ann arrived aboutfour weeks later. Life was perfect. We were home and wehad a baby. Life was complete. Sophia was our selectedbaby and we were content knowing she would be our onlychild. I was already 34 and getting her took years and a lotof stress etc. I was perfectly content! Until I got sick! Oh Iwas so sick, I couldn’t eat or drink without throwing up, Ihurt everywhere and I couldn’t make it go away. I nallywent to the doctor. The doctor called with the news that Iwas pregnant! I can still see my husband’s reaction whenI responded “impossible I’m infertile I can’t be pregnant!” The doctor’s response was “ oops your obviously not in-fertile and blood tests don’t lie!” An ultra sound conrmedI was 8 weeks pregnant! My pregnancy showed nothing to

be concerned about and at twentyweeks we found out we were hav-ing a baby girl! Despite a lot ofnausea, I loved being pregnant.

Unfortunately when I was 36 weeks along my husband lefthe Army after 13 years do to one to many trips to the des

sert and PTSD. He got a medical discharge and we left oumilitary life and Army hospital in Alaska and moved to hihometown of Greensboro NC. I found a new OB-GYN andat my 39 week visit he asked me when I wanted to havemy baby!?!? I was shocked and happy that I could pick thday and make all the arrangements for my other baby ahome. My husband could plan his time o from work. Oubaby was due on August 19th 2008 and my doctor scheduled me to check into the hospital that night at 9pm to beinduced. Finally, after two days. I delivered our little girl a8:30pm on Aug. 21st 2008. We already had her name chosen, Taya Lee. Taya after a Star Trek character and Lee afteher daddy! Taya weighed 8lbs 11 oz and was 21” long. Shwas a normal healthy baby.

Taya had to go into the nursery immediately after birtinstead of me holding her because her respirations wereerratic. At rst they fed her through her nose. I had beedisappointed that I was unable to breastfeed our rsdaughter because she was adopted. I couldn’t wait fothat experience with our expected baby. Oh well I will havyears to make up for this missed rst feeding right?

Taya spent her rst night in the nursery. The next dashe met her grandma’s and her brother and sister Sophia. I tried and tried to get Taya to breastfeed witno success even with the help of a lactation speciaist. She had no desire to eat. This concerned me buwasn’t the only concern I had about my baby. I nevefelt she was quite right. I kept asking the nurses whcame into our room. Finally later that afternoon one othe nurse’s listened to me and agreed Taya was kind ooppy and her eyes just didn’t look right! Taya was 2hours old at this point and the nurse said she was going to take Taya down to the nursery and observe heNot exactly sure how long she was gone but it felt likhours when I nally convinced my husband to takme to the nursery.

Optic Nerve Hypoplasia &

Septo Optic Dysplasia (ONH/SOD) Division News

Martha J. Michals

Consultant for

ONH/SOD

Summer is nally here! Plans are set and we are ready for The MAGIC Foundation’s 22nd An¬nualConvention in July! Please make sure you register now! We have a great line up of speakers andwe are looking forward to meeting old friends and making new friends when we gather and share

our common ground as parents and caregiver’s of ONH/SOD children. Our Facebook Group pageis growing by leaps and bounds. We learn from one another every day. We all look forward tohaving an even greater op¬portunity July 21st-24th to meet, connect, support and learn at TheMAGIC Foundation’s Annual Convention in Lombard, IL! See you there!



I’ll never forget the images and feelings or what was saidto me when we arrived the nursery. I saw my daughter’shospital crib empty. Her blankie from home on the oor!!I knew right then as I feel to my knees sobbing somethinghorrible had happened to my baby. The doctors ran overto us from the elevator and informed us that Taya wasnow in the NICU. She was on a ventilator but doing “great.”Ventilator? Taya had stopped breathing and had becomenon-responsive. Her temperature had dropped. We werebrought up to the NICU to nd our baby in an incubator

with tubes and wires coming out of her everywhere. Shewas so lifeless looking and that was the one and only timeI didn’t think she was going to make it! I hadn’t had timeto know this willful child yet!

Taya spent the next 3 weeks in the NICU. It was absolutehell! Never felt like we were getting told everything. Wehad lots of ups and downs. She became jaundice andthat took longer than normal to correct. She would bedoing good and leave the heated incubator. Her tempwould drop and she would go back. We were initially told Taya had Bacterial Meningitis. Then we were told no theydidn’t get what they were expecting to grow in the lab. Then a few days later yes it’s Bacterial Meningitis because

a small amount of Klebsiella was found in her uid. Thoseantibiotics were what seemed to work so that must bewhat it was. This is same hospital who did a Cat Scan andnever mentioned any abnormalities and same hospitalwho said her vision & hearing was normal!!

After 3 weeks in NICU we went home. We thought all wasne other than maybe few delays do to stay in NICU butwe were never told any other reasons for concern. Tayahas had Early Intervention in our home since she left thehospital. When Taya was 2 months old I didn’t think shewas tracking or seeing anything for that matter! We talkedwith her teacher and she agreed. I made an appointmentwith a Pediatric Ophthalmologist. The tech that came inthe room to do the rst few tests looked into Taya’s eyeswith his light and excused him self immediately. I knewright then Taya was blind! The doctor conrmed what Ialready knew and told us her eyes themselves appearedne but her optic nerves were pure white rather than darkred. He called it Optic Nerve Atrophy and blamed it ondamage from Bacterial Meningitis. This is the same infec-tion that caused Helen Keller’s blindness and deafnessbut then they called Scarlet Fever.

Not sure why but I wasn’t bothered by this news that Tayawas blind. Perhaps because I knew? It is denitely notdenial and I have many therapy sessions to verify that!

We ended up moving back to my home state of Michiganwhen Taya was 5 months to be close to my mom and a topnotch children’s hospital. Helen Devos Children’s Hospitalin Grand Rapids. I am so glad we made that decision! Tayawas denitely not your typical normal baby. This child wasspecial from the start. She is denitely here for a reason.

Since our move to Michigan Taya has had more ER visitsthan I ever thought would be possible. There are enoughstories to ll a book! Needless to say I had an extremelysick baby. Finally one doctor at one of our little local hos-pitals gured it out. We were put in an ambulance to De-vos Children’s Hospital where we stayed nine weeks. We

came home with a diagnosis which was Septo-Optic Dys-plasia along with other brain abnormalities. Taya’s brainwasn’t fully developed. Her Corpus Coliseum is very thinand her brain is smooth in several areas. After long talkswith her specialist and my own research I was so relieved! Taya didn’t have anything terminal and could live to be100. I understood she could of stopped progressing at 9months but I never feared that. I always have felt in myheart and gut Taya is here for the long haul and to changemany people’s lives! Taya also came home from this nine

week hospital stay with a GI feeding tube. Not only did itgo into her gut but small intestines as well.

Many more stays at the hospital with Taya due to her feed-ing issues and unexplained temps and sugar drops. Tayawas also considered Failure to Thrive. That was a hard oneto swallow because that is also what abused children suf-fer from. We did not like that but once we learned that Tayas gut and intestines empty at 12% when normal is100% in 90 minute’s we understood her diagnosis.

The next 7 years were lled with 30+ hospital stays in-cluding out of state, several top notch specialist includ-ing Neurologist, Endocrinologist, Gastroenterologist, Op-

thalmologist, Early Development, General Surgeons anda Pediatrician. Taya also had Early On in our home. (PT, OT,Visual Consultant etc.) I would also drive Taya to GrandRapids 4 times a week 2 therapy sessions each visit. I g-ured God gave me this child and the government gaveme a SSI check for her. I made Tayas well being more thanmy motherly duty but my full time job, actually my ca-reer! I was going to learn and research everything I couldabout SOD, visual impairments and cognitive/physicaldelays. There is not a lot out their on SOD and everythingthat entails. But almost 8 years later I’m still researching. Thank God more information comes out each day. NowI nd myself teaching her team. Sometimes I think Tayais here to remind her large team of specialists that theyare scientist and just because they don’t have the answersdon’t mean they can’t nd them! Thankfully, a few of herdoctor’s nally have listened and understand all theseunexplained issues, temps of 106 out of no where, failureto thrive, etc are all part of SOD and not some big infec-tion or illness! Taya is pretty typical SOD kid, as of now shedoes not produce enough growth hormones. They wait-ed until she was six years old to test for growth hormonedeciency. That should have been done sooner. She alsodoes not produce enough Cortisol which is stress hor-mone. She is visually impaired and also has cognitive de-lays! Pretty typical! Taya does have other things going onbut since we got the growth hormone news and I foundinformation about kiddos with SOD and how their bodiescan’t regulate their temperature Taya hasn’t had 1 hospi-tal stay in a year! That is the rst time I have been able tosay that! Taya was on 22 meds a day and not progressingmuch past a 1 year old. In the last two years we have got-ten Taya down to 2 meds twice a day and a couple PRNs.Now she is progressing like crazy! She started walking justlast month! We were told because she was to low toneor Hypotonia she would never walk!!! Never say NEVERabout my kid! NEVER say NEVER about any SOD kid!!



Taya is here to teach and ll those she meets with a veryspecial love. She is the gooest, funniest kiddo you will evermeet and she has changed me to be a much better under-

standing person. I have never felt like I have lost somethingwith Taya because she will never marry or have children andshe will always remain at home with our family. I don’t have

hang ups about sharing her story or the prejudice somehave towards these “special needs” kiddos. Yes, my daugh-ter has special needs and sorry if that’s not politically cor-rect. She is denitely special and has needs just like every-

one else. I actually get excited when I run across someonewith issues with our kiddos. It gives me the opportunity to

discuss how life is much better with Taya. In the blink of aneye one accident or illness could make someone they love

in the same boat! I can honestly say I have had lots of suc-cess changing opinions and making new friends. The oneswho are unable to understand are stuck in the 70’s when

our kids would have been institutionalized. I pray for them.

I guess the reason I ask if their is something wrong with meis I wouldn’t change one thing about Taya. Not one hospi-

tal stay, not one helicopter or ambulance ride. Or the factwe still get up every few hours to make sure she’s not run-

ning a fever. I wouldn’t change one thing because if I didsome doctor or Nursing student wouldn’t have gotten tolearn from her. Or all our new “family” of therapists and par-ents blessed with these wonderful, unique gifts from God.

My favorite Bible verse is John 9:1-3. As he went along, hesaw a blind man from birth. His disciples asked him, Rab-bi, who sinned, this man or his parents, that he was bornblind? “Neither this man nor his parents sinned,” said Jesus.”

But this happened so that the works of God might be dis-played in him!”

Thank you for taking time to read a little about our journeyenjoy what you have been given and see it for what it is…

…..a true blessing!

Kristen Cook

On behalf of, Taya Lee Cook

If you donate through the United Way, youcan helpMAGIC! We do not have a Unit-ed Way number, but you can ll in “TheMAGIC Foundation” with our address(6645 W. North Avenue Oak Park, Illinois60302) 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 therefor children and their families.



Our Journey with Acquired Hypothyroidism

Our journey with Hypothyroidism began in January 2015Miriam (Mim) was 8yrs old. Miriam is the 3rd child out of 4siblings, and we live in the UK.

For us Mim’s diagnosis came as a complete shock as I hadnever heard of anyone having hypothyroidism so young,and after 4 children it had never registered with me thatone of the conditions they check for is Congenital Hypo-thyroidism. Mim’s case it was only discovered due to metaking her to the Dr’s for repeated tummy ache, she wasdisplaying signs of indigestion, she regularly complainedof her legs hurting, also to us she seemed depressed andhad no energy, everything seemed an eort to her andshe was really tearful and agitated.

Mim as a small child had been really quite poorly, at theage of 2 and a half it was decided that she needed to have

her adenoids removed and grommet’s inserted in her ears.A few weeks after the decisions was made she had to beadmitted into hospital as she kept being sick, this turnedout to be an upper respiratory tract infection, she was on adrip for nearly a week. Her operation was brought forwardand she had her adenoids and tonsils removed and grom-mets inserted. She was so well after that and full of beans,always climbing and playing. Mim started school in recep-tion class at just 4yrs of age, already behind in her learningdue to being poorly from so young, combined with thefact she is the youngest in her year group. But she had aneagerness to learn although the teachers were concernedas she was very “clumsy” and kept falling over, her moth-er’s daughter I told them. By year 2 aged 6, she was really

struggling, her concentration was going and the teacherkept telling her o for not doing her work, grouping herin with the disruptive children. I’m not afraid to say I don’tlike this teacher and I don’t think Mim did either, so I put itdown to personality clashes and hoped things would im-prove the next school year. Things didn’t, but at least shehad a more understanding teacher who had time for Mim,although this didn’t seem to help the concentration andfalling over situation, by this time they tested her at schoolfor dyspraxia, but that wasn’t the answer. Mim resorted toplaying on the Xbox a lot at home because she didn’t haveany friends. She seemed so depressed and unhappy, it wasso sad to see her like that. At parents evening in yr4 aged8 her teacher was very concerned about her, we explained

that we were too and that we thought she was playing onthe Xbox too much and that we felt this was the cause.Miriam didn’t want to do anything but play on it so wewere taking steps to reduce the amount of time she spenton there, but it was causing her to get very agitated, weagreed we would take her to the Dr’s for them to possiblycheck her hearing again. Unfortunately I was then ill andadmitted to hospital for 3 days so it was delayed.

Her dad and I decided it was time to take Mim to see thelocal GP. During the Doctor’s visit in December 2014, I ex-plained about the tummy ache and the concerns of theteacher, the Doctor examined Miriam and diagnosed ant-

acid medication for indigestion, but didn’t address theconcerns of Mim’s teacher or our concerns. She decidedthat a routine blood test was required just to make sureeverything was okay, but didn’t feel anything seriouswould show up. A few days later I received a phone call

from the receptionist at the surgery, saying that the Drwanted to see Miriam again as the blood test had showna problem with her thyroid levels, I went through the mo-tions of making an appointment. I came o the phoneand processed the conversation with the receptionist, andthought “hang on what did she just say” so called backand asked them to repeat what was wrong with the test,the receptionist told me that all she could tell me was oneof Miriam’s thyroid levels was too high which was why theDr wished to see her to discuss it. All I can say is it was along couple of weeks as it was Christmas.

In the next visit to the Dr she told me she was so shockedwhen the test came back showing her thyroid levels were

wrong, and that she really hadn’t been expecting that, shestarted to explain why the thyroid levels were wrong butthe Dr might as well have been talking in a foreign lan-guage, saying Mim’s TSH levels were too high and abovethe reference ranges, along with her T4 levels were bor-derline abnormal. I tried to grasp what she was saying, butdidn’t really have a clue. The Dr explained that it appearedas if Miriam had an underactive thyroid, but because shewas only 8 she didn’t want to start her on treatment yet asshe had never treated anyone so young for an underac-tive thyroid, she referred us to the local hospital to see thepaediatric endocrinologist. I went home a little in shock,I wanted to nd out more but kept saying well when shegoes to the hospital they will retest and say she was ne.

I eventually caved in and had a look at the symptoms. Itwas a lightbulb moment as I went down the list of tick,tick, tick, they answered so many questions as to why Mimwas behaving the way she was, why she complained ofaches and pains, but still I kept telling myself that until shewent to the endocrinologist it wasn’t conrmed.

Thyroid Division News



It was March 2015 by the time we got a hospital appoint-ment. I explained to Mim who we were seeing and why,but in true 8yr old fashion she took it all in her stride. Iwas probably more nervous than she was. I geared my-self up that they would want to do another blood test andwould again talk in a foreign language. The paediatricianwas lovely, and started with telling us that Miriam had anunderactive thyroid, telling us she was hypothyroid. Sheexplained to Mim what that meant and asked her how shewas feeling, Mim replied “ne”. Fortunately I was able to

ask questions as Mim had switched o at this point. Thepaediatrician explained that Miriam would have to be onmedication for life to replace the thyroid hormone T4, butthat did mean that as an adult she would never have topay for a prescription. She told us that Mim would requirea bone scan on her wrist to be able to determine roughlyhow long it had been since her thyroid had stopped func-tioning properly. I asked why a bone scan would showthis, to which she explained that being hypothyroid ef-fected how children grow. Another lightbulb moment,we had wondered why Mim’s younger sister by 2yrs wascatching up with Mim in height fast. I mentioned abouthow Mim had ended up having the blood test, and askedwhether the tummy aches and indigestion were anything

to do with the thyroid not functioning properly, the Drwas unaware of any correlation between thyroid and indi-gestion. Back to the drawing board on that one! I wantedto know why her thyroid had stopped working properly,she explained that the thyroid can limp along for a longtime before it gets to the point it can no longer do its jobproperly, but that we may never know why it stoppedworking properly. Miriam was to start on a low dose ofLevothyroxine 50mcg and to increase to 75mcg after 2weeks so as not to put her body into shock, and then after6 weeks she was to have another blood test to see whather thyroid levels were like, it was explained to us it wouldtake at least 6 weeks to see any improvement. And so ourlearning journey began.

I am the sort of person who likes to know the ins and outsof anything and everything and to understand, so after tak-ing Mim’s prescription to the pharmacy, I started searchingfor my answers on the internet, big, huge, mistake!!! Theonly information I could nd was based on adults, ok thesymptoms all tallied but anything else was just too scary. The forums were all aimed at adults and were extremelynegative places. I could nd nothing aimed at Hypothy-roid children other than Congenital Hypothyroid, whichalthough same symptoms was directed at babies so didn’tthink would help. I gave up feeling depressed and scaredfor my 8yr old daughter who would have this conditionfor the rest of her life, and some of the things I had readetched into my brain along with the fact that I also hadringing in my ears the Drs words, that because she had de-veloped one endocrine disorder at a young age she maywell develop another. A family member called to see howit had gone at the hospital, I lled her in on all that wassaid, and low and behold she picked up all the negativesstu and started being really negative. I thought I don’twant to hear this. I decided then that I wouldn’t look at theinternet again for my answers for a while, the only thingI had learnt was that people with hypothyroidism don’tmake enough stomach acid, so in actual fact the ant-acidmedication made the situation worse for her.

Miriam started her medication a few days later and from

day one I have given her some responsibility by makingher come to me for her medication as opposed to me tak-ing it to her. We weren’t expecting anything to happen for6 weeks, but even just the rst dose when she came outof school she was slightly less tired, this was huge in mymind. A week after she had started her Levothyroxine thedierence in her was amazing, she was more alert and notquite so tired, this was timed perfect as she was due to goon a school residential trip for 3 days. This meant I had tohand over her medication to the leaders of the trip, trying

to politely but rmly get across the importance of themgiving her medication to her half an hour before break-fast. At this point I realised I had become the “Levothyrox-ine police”!!! Mim thoroughly enjoyed her trip away andI think the experience was enhanced by the fact she feltso much better, even though it was still early days on themedication.

Watching Mim come alive again was amazing, my littlegirl was coming back to me (she will be angry with me forcalling her “my little girl”, because she’s very much a tomboy) I know that sounds far-fetched to say that but that’swhat it was like. It got me thinking about when and why ithad started? My mind kept telling me the beginning was

when she was really poorly as a 2yr old.

By the time Mim had her 2nd appointment with the endo-crine team she was on full form, the Dr was really pleasedwith her progress, and I had also managed to get a pho-tograph of Mim in the early days of her medication thatshowed the dierence in the morning before and aftermedication, the Dr asked me to email it to her so it couldbe used as a teaching tool to new Dr’s. Although Mim wasslightly over medicated, she would be ok as she wouldgrow into her dose. I thought another set of symptomsto learn.

I wanted to learn more about her condition. I felt that I

could only help Miriam if I understood the conditionmore, but after my last brush with the internet searching Iwas a little wary of searching again. I took the plunge andused Facebook, asking my friends if they knew of anyoneelse who had a child with Hypothyroidism, no-one did butseveral came back with links to various parent supportgroups. Through one of these links I stumbled across TheMagic Foundation’s Facebook page for parents with chil-dren with Congenital Hypothyroidism, I was accepted andso my learning began. It was a relief to nally have parentsin the same situation as myself, and so many people tolearn o, I bought a note book so I could make notes to re-fer back to, and so nally I was able to understand the for-eign language that the Dr’s talked in. After a while one ofthe other parents of an Acquired Hypothyroid child askedif it was possible to have a dedicated Facebook page forparents of Acquired Hypothyroidism, there was some in-terest, I ended up being the one to approach Teresa fromthe Magic Foundation if it was possible, and subsequentlyended up becoming the admin for it, I still ask myself howthat one actually happened!!! All the information I learngoes to helping Mim to understand a little of why she feelsthe way she does, but sometimes it can be easy to becomea little paranoid about, asking yourself, is she like that be-cause her levels are o? Has that happened because she’shypothyroid? (I have some amazing arguments in myhead). You post it on the group and some reality comesback again.



On her last hospital visit to the Endocrine team we sawa dierent Dr, we explained that it seemed like her lev-els were o, she was tired and emotional again, so hechecked the bloods she had done the week before andlooked puzzled, he turned to Mim and asked her if shetook her medication every day? Do you spit any out? Areyou sure? How long after taking your medication do youeat your breakfast? Mim answered all his questions truth-fully and correctly. He then turned to me and accusingly

asked is this true Mum? I was a little puzzled so told himI was the “Levothyroxine police” in my house and yes itwas all true, why? He proceeded to explain that Miriam’slevels were a little bit strange and she needed to increaseher dose form 75 to 100 mcg, but wouldn’t explain why.When I asked for a copy of her blood results he was ex-tremely condescending wanting to know why I wouldwant them and why I felt the need to check up on the Dr’sI had only told him I liked to have them because it helpsme learn and understand in order to help Mim. I asked ifhe could have her thyroid antibodies tested, he was ada-mant it was done when she was rst seen in clinic, I toldhim they hadn’t ever been tested, he had to back down

on that one and agreed to test them. I was fuming at hisattitude. He begrudgingly gave them to me and we left.When we got home and I calmed down I looked at theresults, there was nothing on there that indicated a doseincrease was needed, I had ringing in my ears how conde-scending he had been, and who was I to question whathe had decided as he had years of medical practise and Ihad only been learning for a few months? I did as her toldme and increased her to 100mcg, but kept a watchful eye.After a few weeks Mim had to see the GP for another mat-ter, I used this opportunity to raise my concerns with her,she looked and conrmed what I had thought, and therewas no reason for him to have increased her dose. The GP

emailed the consultant at the hospital and after a coupleof weeks received a reply apologising for his mistake. Bythis time Mim was so over medicated it was actually be-ginning to make her feel quite ill, her heart was racing andshe couldn’t sleep, the worst of it was that she also startedto become very aggressive, which is not like Miriam at all.A repeat blood test was done and sure enough it had senther into hyperthyroidism temporarily whilst the dose wastoo high. The dose was reduced back to 75 again, but justas it takes time for it build up in the body it also takes timeto reduce in the body. I am really pleased I have learnt asmuch as I have about Mim’s condition, because I was ableto spot the mistake of a qualied consultant. Never feelafraid to ask for the results of your children’s tests, Dr’s areonly human!!!

Recently she has had another blood test as we were con-cerned about her, again she was showing symptoms, herblood results came back and we now have it conrmedthat Mim’s thyroid was attacked by her own immune sys-tem in other words Hashimoto’s, but this does also con-rm my suspicion, that is more than likely when she wasreally ill that started the land slide of her thyroid. The Dremailed me saying all was ne, thyroid levels were ok. An-other Dr contacted us to say that Miriam’s thyroid levels

are ok, but she is Iron Decient but not anaemic, and weare to increase her iron levels by diet, this one I’m ndinga little hard to correct by diet!!! Until we go to the hospitalin May I can’t do any more than I am.

Although the initial shock of Mim’s diagnosis was hard, atthe same time it was a relief, it gave us answers as to whyshe had changed so drastically, and it gave us somethingto work with. I do appreciate it’s not a permanent x to

the situation and that her health will be a little bit of aroller coaster particularly until she’s an adult. I asked Mir-iam could she remember how she felt before she startedher medication. She said “I felt tired all the time, I didn’twant to do anything, I felt really lonely as I didn’t have anyfriends and I didn’t want to go to school.” I then asked herwhat about now you are on your medication? Her replywas “I feel really happy as I now have friends, and I’m enjoying being friendly and sociable” Miriam having friendsis huge for her to the point she associates her having hermedication with having friends, I’m not sure psychologi-cally that is a good thing or a bad thing, but it does haveits perks, as she never argues about taking it.

I’m also very grateful that the routine blood test was doneas that was the start of getting Mim back to how she usedto which makes me smile every day. My little tomboywhirlwind always playing and able to nd fun in life againis amazing.



My family’s SGA story began for us ocially on Octo-ber 18th of 2014 the day my second son was born andto say the circumstances surrounding his birth wereunexpected would not be an understatement. Let meback track a bit though. It took several years to con-ceive our rst son and my pregnancy with him was

miserable. I was sick everyday, the whole time. I lostmore than ten pounds the rst trimester and endedup only gaining 13 pounds total. Asher was born atalmost 42 weeks gestation on New Year’s day, 2012 at6lbs, 2oz. Everyone remarked at how small he was,but I’m only 5 feet tall and my husband is only 5’7.We’re not big people, so I wasn’t terribly surprised.

Fast forward a few years later, and we decided Asherneeded a sibling. We had high hopes that this secondpregnancy would be an easier one than my rst, but itwas not the case. I lost weight just as I had the rst go-round. I was told to just keep eating as much protein

as I could, stay hydrated and keep taking my vitamins,that this was just how it was for some people. So Iwasn’t terribly concerned, but not super comfortable.

The baby always measured small, and I reached 33and a half weeks when my midwife began to worry. Ihad gained only 5 pounds total from my pre-pregancyweight and was measuring very small. I was referredto a fetal neonatologist to rule out any issues. Wescheduled an appointment for a few days later, andI’ll never forget that day. I went in, excited for a longultrasound- I loved seeing the baby, another boy- but

the results were not what I was expecting. We dicovered that he was measuring very small, at leastmonth behind where he should be. The specialist sashe believed my son was an Asymmetrical IUGR baband that he would be better out in the world than iutero. I had never heard this term before, and she to

me that some babies, for whatever reason, don’t growell in utero for any number of reasons, but that yoget them out and they eat and grow just ne, andshouldn’t be worried. She even said that her thirdaughter was IUGR and then SGA and that she was teenager and taller than me. While we should induclabor, we should not be panicking.

My midwives insisted that the OB in the practice bpresent as well, as this had shifted to a “higher risksituation.Long story short, I went in on Thursdamorning to be induced and it just wasn’t happeningMy body didn’t want to have a baby yet. They trie

pitocin and cervidil and all sorts of fun. The OB wavery supportive of letting this take its time, the babwas always monitored.They gave me an option of C-Section if I wanted one but let me know that thbaby, while small, didn’t seem to be in distress. Hheart rate was stable, and he appeared to be measuing at least four pounds. Finally, on Saturday, my bodgot the message and I felt very intense contractionI went from 0 cm dilated to 10 in under an hour antwo pushes later, my second son was born silently intthis world.

Small for Gestational Age (SGA) Division News

Megan DonnellConsultant for

SGA and Mom to

Emerence (SGA)

Hello again! It has been a busy few months – my husband and I took the kids, Michael (16) andEmerence (13 SGA) to Chile in April to visit their dad’s family and most importantly their older halfbrother. Babies are born SGA in every country and while visiting some of my kids family on theirdad’s side, it turns out a family member has a sister whose 4 year old was born SGA and is still thesize of a 18 month old.

Since I also run a Spanish speaking group for SGA and RSS, I was happy to invite her to join thegroup. I also was determined to try and make some connections for MAGIC while in Santiago andwas able to meet with the VP of the Chilean Endocrine Society. She referred me to also speak withthe head pediatric endocrinologist for the Society. We arranged to meet at the public Children’sHospital in Santiago. I was expecting just a quick meeting (I brought a Guidebook as a gift) andwhen I got there, there were 3 other endos (one who came in on his day o), 2 pediatricians anda geneticist. I ended up speaking with them for almost 2 hours sharing all the SGA and RSS treat-ment info I have learned over the years. At the end of the meeting, they realized they might be able to coordinate trement for the 15+ Chilean families I have known over the years through the Spanish speaking support group! Althougexpect progress to be slow, I am thrilled our SGA and RSS kiddos in Chile may have access to a group of doctors who seeexcited to learn and treat them!! The endo also oered me a tour of the hospital and I met several other groups of docto(some of whom wanted to know more about MAGIC) and saw some of the wings where they have the NICU, transplaservices and cardiac services.

As this is a public hospital it was very dierent from what you would expect in the US but all around me I saw teams dedicated medical professionals treating their patients. As hard as it can be here, I can appreciate how much harder ifor others. See you at convention!!!



He was born en Caul, his entire body was still encapsulatedin his amniotic sac, it was amazing. But he wasn’t crying andwas a greyish blue. They popped his sac, suctioned out hislungs,-he screamed and he was taken away immediately- Iordered my husband to go with him. I found out later thathis original Apgar score was a 1, and was so glad I hadn’tbeen told that in the moment. I had planned to encapsu-late my placenta but as I delivered it, it was coming out inpieces and shreds, what was there was in terrible shape

and it was a wonder that my son was alive at all- they hadto, for lack of a better term, dig around to make sure theygot all of it out and then I was stitched up and wheeledmyself over to the NICU to see my son.

My husband lled me in on what I was now seeing formyself- that our baby had an IV inserted in his micro-scopic bellybutton, oxygen in his nose and he was inan enormous incubator. The lights were low, so to notdisturb him and they wanted to know if they had ourpermission to put in a PICC line. All I wanted was tohold him, and they wouldn’t let me. This little person,who we were expecting to be between four and vepounds barely tipped the scale at three pounds even.

We named him Jonah. I pestered doctors until I wastold that I could put my hand in the incubator but wasinstructed not to rub his back or arms, as his skin wasdelicate, I should only pat gently, and not to talk whiledoing so; as it might overwhelm him. It was terrifying.I wanted to breastfeed, but was told he was too smallto do so- that he’d burn too many calories trying. I wasreleased from the hospital the next day, and I wasn’tgoing to leave my baby in the hospital without hav-ing held him. They let me (So scary, how the doctorswere able to tell me what I could and could not dofor my own son.)My favorite NICU nurse, Betsy, toldme that while the doctors could advise anything thatI could and should question and push and play stupid

if someone gave me an answer I didn’t like. This wasmy baby, and while it was their job to help him grow,it was my job to love him and that I had the right todo anything that would enable us to do that better.So I decided to pick my battles. Bottle feeding wasone of them. I wanted Jonah to know how to take abottle and he ate like a pro, but was a tiny boy and socould only take tiny amounts of milk per feeding froma bottle. Every day we’d go up between 2 and 5 ccs, aminiscule amount, but we celebrated every drop thatwent in and stayed down.

From the beginning, little Jonah was, and remains aghter. He had to have his PICC line inserted twice( a minor surgical procedure, involving a catheterthrough his vein in his arm to keep him nourished)due to his pulling it out. I was told they don’t oftensee little guys with as much spunk as my boy. His thirdday alive, he was laying in his incubator and pulled hisoxygen out of his nose. The alarms started going oand the nurses came running, they checked his levelsand he was ne. He never went back on, remaining onroom air for the rest of his time there. I made a pointto be at the hospital at least three feeds a day, andmy husband went at least once every day, and it wasa blessing that it was only two miles from our home.My favorite visit was at 1 am after waking up to pump-

I liked to bring him fresh milk in the night time, thawas when he ate best. The NICU was peaceful in theevening, and it was the only feed where I didn’t feerushed. After each feed, we’d do Kangaroo care andI got to hold my tiny boy. You take for granted howamazing it is to hold your little one until you have onthat lives in an incubator, then every moment withthem feels like visiting Disneyland.

That was the toughest part about the whole NICU ex

perience, always feeling like I wasn’t there for one omy kids. My oldest was having a very hard time, hwasn’t yet three and didn’t understand why we didn

just bring the baby home, or why Mama had to go tothe hospital all the time. He called Jonah “Baby Donut” and missed being the center of my attention. knew that Jonah had a sta taking care of him 24/7but they weren’t his family. We were told that Jonawas what they called a feeder-grower. He wasn’t alowed out of the incubator full time until he reachedfour pounds, only then could they allow him to beat room temperature and adjust to a crib. Once he’dbeen out for 48 hours minimally, holding his temp, hcould prepare to go home. So everyday, we counte

ounces, and our hearts sank on days he stagnated olost. It took Jonah eighteen days to gain one poundto get to the magical 4 pound weight, and on that daywouldn’t you know it, they didn’t take him out of theincubators! I gave them a day’s grace period to makesure progress wasn’t happening and then Betsy, Jonah’s main nurse suggested I request a meeting witthe head neonatologist to see what the holdup wasShe and I both felt he was ready.

At that point, he was spending several hours out if ia day in kangaroo care,and always held his temperature just ne. I met with a patient advocate and spokwith the NICU nurse provided through my insurance

company, and they both advised me I was well withinmy rights and could advocate for my son. The doctosaid he would just prefer to be cautious, keep Jonah ia while longer. I was oored and I reminded him thaat this point, Jonah was technically past 36 weeksgestationally. He had had no health issues other thabeing tiny- had passed his MRI with ying colors andwas ready to at least be given a chance to be in a cribHe said he’d consider allowing it. Whaddayaknowthe next day, Jonah was out of the incubator! Severanurses let me know that the hospital liked to keep babies incubated as long as they could get away withas it was billing more to insurance. When someonecomplains to the insurance company, if the doctorcan’t provide a medical reason to keep them in, at thapoint, crib care on room air starts- the things you learnbeing a pushy Mama Bear! We were in the nal countdown to coming home. Two days later, we brought inhis carseat for the test- it was necessary to ensure thahe would breathe just ne in it for an hour before hcould come home. He passed and was able to comehome, on November 8th, the day after my husband’30th birthday.



I wish I could say that everything has been easy sincethen, but at the very least, it’s been a hell of a lot easierhaving both of my kids under one roof.

Jonah suered from some pretty extreme reux issues for a while, which I’ve been told is pretty common for kids starting o so small. We fed him aroundthe clock, every three hours, just like in the hospital fothe rst nine months of his life. We never found ouwhat caused his placenta to deteriorate, or how longit had been in the condition it was in. We know thahe was lucky to have survived. We’ve gone throughthree pediatricians in the last eighteen months. Thrst two didn’t even know what IUGR was and withouthe Magic Foundation, and the corresponding boardon Facebook, I wouldn’t be as knowledgeable as I am

I was told by those doctors that I just needed to feedhim more, that he’d just catch up, which we knew noto be the case. It was funny, because eating has nevebeen Jonah’s issue- after we got over the reux issueeating was a breeze. My boy loves to eat. I pumpedfor him for 13 months and then we went through hi

freezer stash. He started solids at six months and tooto them like a pro. We now have a pediatrician (whowe found through the SGA Facebook group per recommendations) who actually knows and understandIUGR and SGA! We check in with her every thremonths for an appointment, have discussed Endocrinologist referrals at two if need be, but we’re slowltrending upwards . Jonah’s not huge by any means, ahis 18 month appointment this past week, he tippedthe scale at 20 lbs and 30.5 inches tall.



We had home nurse visits monthly after leaving the NICU and Jonah’s always been a bit behind on milestonesWe got him involved with early intervention through the state starting at six months old and he receives therapist visits weekly as he’s got some low muscle tone issues. We love our therapist and have learned that Jonah

just moves at his own pace and to be honest, that’s alright with us- he’s growing! My family is Jewish, webelieve in miracles, and feel that Jonah’s birthday, on October 18th was one. You see, every Hebrew letter isgiven a numerical value- Chai, the Hebrew word for life, has a numerical value of 18. Jonah’s actual due dateironically, was originally November 27th, 2014- Thanksgiving, and he’s given us a good deal to be thankful for

Together we are strong.

Together we areMAGIC! There are many people who volunteer forMAGIC everyday. They selessly

devote time and energy to make sure that families in crisis get help. If you

or someone you know would like to volunteer for MAGIC Foundation,

please email us at: [email protected]



Quinn’s Story

October 2, 2010. It’s a day that will forever be im-bedded in my mind. My whole life all I’ve wanted isto be a wife and mom. As long as I can remember, Iimagined that fairy tale version of what my life wouldlook like. Marry my high school sweetheart, have one

boy one girl, live happily ever after.... Right? In 2006 Imarried my high school sweetheart, Mark. In 2008 wehad our rst bouncing baby BOY. Here I am, October2, 2010 ready to deliver our GIRL!! It couldn’t be anymore perfect. My pregnancy went smoothly, otherthan our gender reveal ultrasound showing our babywas “most likely a boy” and eventually nding out nodenitely a girl, it was very anticlimactic. Due to myextra “healthy” babies I was scheduled for a c-section.Again, smooth delivery. Until I was being wheeled out

of the operating room everything seemed ne. I remember my doctor stopping Mark on the way out andasking to see the baby. Still, no red ags, and of courseshe wants to see my precious baby girl. A few minutelater she comes in to tell us they are going to bring ina NICU doctor to check her out, she had some physicaconcerns. Let me tell you, that NICU Doctor had little

to no bedside manner. The next hour was the mostraumatizing hour of my life. If you have your ownCAHer I’m sure you can relate. Within the hour thehospital’s pediatric endocrinologist was in my hospital room. She said she was fairly certain our daughtehad congenital adrenal hyperplasia. She has what?!?Was obviously my rst thought. She was quick to reassure us that with proper medical care she would be

just ne. And then surprisingly what I felt was a hugesense of relief.

Congenital Adrenal Hyperplasia (CAH) Division News

Lisa HughesConsultant for

CAH and Mom to

Liam

The time is near for the MAGIC Foundation’s annual medical convention, which is sched-uled for July 21-24 at Westin in Lombard, Illinois. I do hope you have completed your reg-istration and are as excited as I am. This year we will learn how to better understand andanalyze lab results to ensure our children are receiving the best treatment possible, wewill hear from an adult who has CAH and learn about his real-life experience with diagno-sis, treatment, sports, and growing up with CAH, and then we will learn about emotionaland mental health so we can support our children and understand what they may begoing through. There will also be some exciting networking opportunities with a pizzaparty, a dad’s mix-n-mingle, a mom’s mix-n-mingle, and a teen gathering. One of the bestthings about the medical convention is meeting others who understand what you are go-ing through. The gatherings provide the opportunity to share stories and learn from eachother. I truly hope to see you there!

On a more personal note, my life has been pretty exciting lately. I nally moved back home to the St. Louis areand am so happy to be here. I moved to Champaign, Illinois back in 2007 and have missed St. Louis ever sinceAlthough I did travel back to see family fairly often, it just wasn’t the same. Now that I am here I am enjoying as much as possible with family gatherings and exploring the area. Even more exciting news is that I am newlengaged. My boyfriend of a little over a year, whom I love very much, asked while we were driving back to St

Louis from Champaign. It was by no means a romantic proposal, but that part is not important to me. I amthrilled to announce that on April 1, 2017 I will marry the love of my life.

I also have some good news to share about Liam. He recently visited his endocrinologist and received excellenresults. He has grown to 49.4” tall and now weighs 59 pounds. This puts him at 75% on the growth chart. Whilethis is good news, it also makes me a little nervous. I have four children and the other three have always stayevery low on the growth chart so to have him so high it doesn’t seem right. Especially considering his father ionly 5’ 5”, but genetics are a funny thing so we will just watch him closely. All of his lab results came back nearlperfect. This time they also tested his testosterone and androstenedione levels and they came back perfect awell. We also haven’t had any illnesses in about two years, so I would say the kid is doing great. I do know fosure that he is happy and full of all kinds of energy.

Finally, last but denitely not least, I would like to introduce you to the Lockey family. I have had the pleasure o

meeting them face-to-face at a CAH gathering we had in the St. Louis area and I will tell you, they are a beautful family. Their middle child, Quinn, was born with salt-wasting CAH and they would like to share their story.hope you enjoy reading it as much as I have.



Nobody wants to hear there are health problemswith a child, but let’s be honest, there are so many

worse diagnoses. She was healthy and she couldcontinue to be healthy. Don’t get me wrong, I hadmy moments. So many thoughts went through myhead. Would she get sick more easily? How will I pos-sibly go back to work? Will she live a “normal” girl’slife? I had so many fears. The rst months had plentyof tears. I still to this day can’t smell the soap that wasused in that NICU without the feeling of pure panic.

Those rst days in the NICU consisted of countlessblood draws and conversations with doctors, oh andthen we nally decided on a name! Quinn Olivia.

Quinn was ocially diagnosed with salt wasting

congenital adrenal hyperplasia and prescribed hy-drocortisone, orinef, and a salt supplement. Therst couple of months were trial and error with med-icine. At two months old her 17 hydroxyprogester-one levels were still very high, still she seemed to behealthy and happy. She was switched to a Cortef pillfour times a day and it made a big dierence in herlabs. Quinn thrived! She was a little chunk and shewas soooo happy!

What kind of story would this be without a littletwist? When Quinn was seven months old I found

out I was pregnant!!! Yep, just when I was gettingthis family of four thing under control and nallyunderstanding and handling Quinn’s diagnoses wewere going to become a family of ve! Like our en-docrinologist recommended I saw a perinatologistright away, and started taking dexamethasone. Wescheduled chorionic villus sampling, or CVS, to de-termine the gender of the baby and conrm if he/she also had the condition. We quickly started hav-

ing second thoughts about that decision. I had somany side eects from the medication. Horrible in-somnia, acne, weight gain, the list goes on and on.If that wasn’t bad enough the only information thatwas gained from the CVS was that our baby was infact a girl. We were recommended to now schedulean amniocentesis. In the midst of all of this we de-cided get a second opinion on the route we had cho-sen. It was at this appointment that we learned ouroriginal perinatologist had misprescribed my dos-age of dexamethasone. I had been prescribed 4mgwhen I should have been prescribed .4mg. I know,BIG mistake! At this point, I switched doctors (anddosages) and nished out my treatment. On March17, 2012 I gave birth to a very healthy baby girl.

Today Quinn is a beautiful and healthy ve yearold. She goes to school, takes dance and tumblingclasses and lives that perfectly “normal” girl’s life wehoped for. We have never limited her in any way. Shestill takes Cortef three times a day and a very smalorinef dose once a day. She’s never been hospital-ized for illness and has never needed a Solu Cortefinjection. I can only pray that her rst ve years are asign of what her future with CAH will look like.



McCune-Albright Syndrome (MAS) Division News

Riley’s Story

McCune-Albright Syndrome was introduced to our familyin July 2012 with our daughter, Riley’s, diagnosis at the ageof 3. The alarm bells went o when we woke up to a “pull-up” full of blood on the Fourth of July…not the reworksanticipated on that Holiday. I immediately contacted ourPediatrician and he arranged for an appointment the nextmorning with Pediatric Endocrinology at Riley Children’sHospital is Indianapolis. We are fortunate that our Pedia-trician had studied with the head of Riley Hospital’s Endo-crinology Department and he had the forethought andrelationships to get us pointed in the right direction from

the start. Many families struggle for years without a cor-rect diagnosis.

Even before the initial episode of precocious puberty, wehad concerns about Riley’s endocrine system. Riley hadmultiple episodes of breast buds (small, hard raised pro-trusions under her nipple area) during infancy and her tod-dler years (enough concern to warrant several visits to thepediatricians’ oce for examination). Breast buds over theage of two are very rare and concern over their persistenceprompted our pediatrician to have a bone age x-ray testperformed on Riley’s left hand at the age of 2 ½. A boneage test is used to compare one’s developmental age in

relation to actual chronological age. Riley’s resulted in de-termination that her “bone age” was 6 months advancedversus her chronological age. A result of six months wasdetermined to be within the statistical variability of thebone age test; so accordingly, we decided only to monitorRiley more closely. Researching breast buds revealed pos-sible precocious puberty (early onset of puberty).

The afternoon before our 3 hour drive down to Riley Hos-pital, my research of precocious puberty lead to a deni-tion of McCune-Albright Syndrome symptoms that I willnever forget reading: • Precocious puberty in girls as young as 6 months

• Polystoic brous dysplasia • Café au lait spots

Riley has a “bump” on the right side of her forehead (lookedlike a “goose egg” from a fall) that we had been monitoringfor some time, a café au lait birthmark on her lower backand now what appeared to be precocious puberty. Unfor-tunately, the puzzle pieces were falling into place. I imme-diately called my husband at work and told him “I just readabout an extremely rare syndrome and I think Riley has 3out of 3 of the symptoms” and he thought I was crazy.

Tamara GordonConsultant for

MAS/FD and

Affected Adult

The last few weeks of my pregnancy have been challenging. One morning I woke up withexcruciating pain, in my ribs. It hurt to move, to get out of bed. Good thing I had a doctorappointment that day. She prescribed me a pain patch that could be worn for 12 hours out of24. I decided the best thing for me, was to wear it while I sleep as I can manage the pain dur-ing the day with heat and ice. Thankfully, the pain now has lessened. Last night was the rstnight I slept without the pain patch! What caused the pain? The world will never know. Mydoctor said it’s common with hormone changes. I believe it might have been a stress fracture,or the baby kicked me, or the change of weather. Maybe a combination of all three! I’m justthankful, I’m not in that bad pain anymore.

My C-section is scheduled for May 11th, unless the baby decides to arrive early. I’m taking iteasy, not going to overdo any physical activity. My husband is helping out, doing more house-work. I’m also keeping our two and half year old busy, before she becomes a big sister. Life isbusy; I cannot let pain stop me. One thing, which works for me, is to make lists. I love lists. Byhaving a list of what I would like to accomplish during the day, within reason, makes me feelproductive when I check things o.

Our annual convention is coming up! Mark it on your calendars, July 21-24, 2016. I’m so excited to have everythingall planned out. We will have Dr. Collins, Dr. Stanton, and Dr. Boyce. There will be a couple more speakers to make the

weekend more interesting. Stay tuned. One thing I love about the convention is that we are a family. Come, learn andhave fun with your family and life-long friends. It’s a great time to come for your rst time, and make friends that willast a life time. Due to my new arrival, I won’t be attending the convention this year. Russ Hazael will be attending inplace of me.

The Facebook group is another great way of communication. Our membership continues to grow, on Facebook. Itwould be good to go on introduce yourself, for the new faces. If you are not a member of the Facebook group, you cannd us on Facebook, at Life with McCune-Albright Syndrome or Fibrous Dysplasia.If you would like to share your story or your child’s story with us, please e-mail me at [email protected]. Also,feel free to contact me with any questions. Happy Summer!

Tamara



Riley’s examination the following day was initi-ated with an ultrasound of her ovaries and anotherbone age x-ray. Once we met with the endocrinolo-gists, they conrmed peripheral precocious pubertycaused by a cyst on her left ovary the size of a golfball. The cyst produces excessive amounts of estro-gen causing a shedding of the uterus or a menstrualcycle. Our three year old daughter was having whatappeared to be a period.

Riley was further examined physically and a panel ofhormone tests ordered. We discussed pregnancy, Ri-ley’s infancy, childhood, her forehead “bump”, her caféau lait spot and the doctor started to explain “Thereis a syndrome…” and I asked “McCune-Albright Syn-drome?” The doctor conrmed that they suspectedMcCune-Albright and went on to describe that usu-ally children are diagnosed with this rare conditionwhen they have 2 out of 3 of the symptoms but it ap-peared that Riley had all three.

We left the hospital emotional and confused withfollow-up appointments scheduled for a bone scan,

ophthalmology, and audiology. Along with the clini-cal follow ups, we were given a brochure describingMcCune-Albright Syndrome from the Magic Founda-tion...our new doctors recommended that we contactMagic.

Riley’s follow up appointments were dicult as shehad to be sedated for the bone scan, however shewoke up with a smile on her face and she was sucha trooper with all the injections, blood work, special-ist appointments and scans. The bone scan revealedthat approximately 1/3 of her skull was aected withpolyostotic brous dysplasia. Riley was conrmed tohave McCune-Albright Syndrome.

The week following her diagnosis was unbearableemotionally with trying to make sense of why Riley?Why our family? What does this mean? Researchingtoo much? What will her future be like? The supportof our family and friends was and continues to beamazing. A turning point for us was when family andfriends put it into perspective as how lucky Riley is tohave our family because they know that we will doeverything and anything in our power to care for herand understand this condition.

I contacted the Magic Foundation and was relievedto speak with KC who has MAS/Fibrous Dysplasia, welaughed and cried. She encouraged us to attend theAnnual Children’s Conference which was only twoweeks away and luckily we live within an hour and ahalf from the convention’s location.

At our st convention, I was overwhelmed with theamazing medical information and insight providedby Dr. Collins, Dr. Boyce and Dr. Stanton. The McCune-Albright families attending the conference knew whowe were even prior to arriving.

We kept getting the “Oh – you are the new guys”comments. Following the presentations, the familiesformed a discussion circle where the families lookedat us and said “we already know all about MAS andhave experienced what you are going through, weare here for you…..how can we help, what questionsdo you have?”

The McCune-Albright Syndrome (MAS) kids and theifamilies are amazing and opened their hearts to help

us understand, navigate and manage Riley’s McCune-Albright Syndrome. I was so moved by the outpoufrom the group and its eect on our ability to betterunderstand and navigate through the disease thatthe January following Riley’s diagnosis, I ran the Dis-ney ½ Marathon with the Magic Foundation Team tosupport this amazing organization.

Riley struggled with four precious puberty episodesover the next year. In addition, her growth seemed tobe accelerating the summer of 2013. People we metwould inquire if Riley and our middle son, Drew, weretwins (Drew is 2 years older). This led us to numer-ous calls with our endocrinologist, growth hormoneevaluation and cooperation with Dr. Collins at the Na-tional Institutes of Health (NIH).

Share Your Story!

If you would like to share

your story, reach out to

your division consultant.



Riley was accepted to a clinical study, Natural History ofPatients with Polyostotic Fibrous Dysplasia and the Mc-Cune-Albright Syndrome, at the National Institutes ofHealth. Initial examination required Riley to be admittedat the NIH for a week long battery of testing and evalua-tion. The week started with a team of doctors perform-ing a cursory examination of Riley along with an in-depthreview of her medical history. The schedule for testingand evaluation to be performed during the week is thenreviewed. The team at the NIH is very ecient and keepsyou constantly moving. The testing reveled that Riley’sbone age had accelerated to 7 years 4 months of ageand she was 4 years 4 months old chronologically. Riley’s

bones had grown three years in 6 months.

In addition, during our visit Riley experienced her fourthepisode of precocious puberty with a cyst evident on herright ovary. The CT scan revealed a large amount of bonedisease behind her right eye and her optic nerve was sur-rounded by bone disease as well as her hearing bones.After a 12 hour growth hormone testing, we found thatRiley’s pituitary gland is producing excessive growth hor-mone (only 20% of MAS patients are typically aectedwith growth hormone excess). Uncontrolled, excessivegrowth hormone can lead to acromegaly or gigantism.It was evident that Riley would need to start medicaltherapy to manage her symptoms. Riley started taking

Letrozole daily to manage the precocious puberty and amonthly injection of Octreotide to manage the growthhormone excess.

The NIH is a large campus with wonderful facilities andlike most government run organizations these days hasstrict security and inspection procedures in order to en-ter. On the NIH campus, a common residence for useby families of children was built through corporate andindividual sponsorship. The residence is called The Chil-dren’s Inn. The Inn has wonderful facilities where children(and siblings) with varying medical conditions can nd

other children of similar age to play with. I was nervousabout how our kids would manage the week, but thereare so many activities and resources for the children andfamilies that the kids had a good time. Volunteers evenprovide assistance with schoolwork and entertainment.On our rst night at the Inn, a magician entertained thekids. The children have also enjoyed sing-a longs, jug-gling, face painting, bingo with prizes, etc. Unless Rileyis scheduled for testing over night, after the full days oftesting and evaluation she typically joins her brothers atthe Children’s Inn for several hours of play. Riley says “she

likes everything about the NIH hospital except for theshots”.

We have been to the NIH for Riley’s evaluation three timeson an annual basis since her diagnosis which is part ofparticipating in the clinical study. Riley has responded sowell to her treatments that the doctors at NIH have decid-ed to extend the timeframe for her next evaluation to twoyears which was great news. Along with the NIH evalua-tions, we continue to visit Riley’s Children’s Hospital an-nually for a physical examination and blood work. Wecoordinate and share all information and data betweenthe two hospital organizations and the pediatrician to in-sure we are all on the same page and working together

for Riley.

Riley is enjoying Kindergarten and such an outgoing, fun,happy young lady. She enjoys playing with her brothersand friends. Riley does great in school and participates indance, tumbling and Drama. She loves horses and dol-phins. It is important to take each day at a time. We areso blessed to have a wonderful support network of fam-ily and friends as well as caregivers, physicians and ourMAGIC family.



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This newsletter has been provided as a courtesyof The MAGIC Foundation. It is for informationapurposes only. The MAGIC Foundation does notassume any liability for its content or decisionsmade on the basis of these materials. Always, consult your physician for diagnosis and treatmentoptions.

Alyzea Louise aka Ali was born Oct. 8th 2011. Throughout the whole pregnancy everything wentgreat and we had no complications. But her problemswere to come not long after her birth. At six weeks oldAli ended up in congested heart failure, it turned outthat she was born with Aortic Stenosis and a unicuspidaortic valve. She has been lucky so far and has hadonly two heart cath done, but we have been told thatit is a matter of when not if she will need open heartsurgery. While we were in the hospital they order agenetic test done on her, which at that didn’t holdmeaning to me and we never heard back from that sowe didn’t think anything more of it.

Around 2 years old we had Ali tested from Early On. Atthe time she was not saying anything and she showedsigns that she might have been autistic. After all thetests we learned that she wasn’t autistic, but thatshe was behind developmentally and had Sensory

Processing disorder. The major issue she had was helanguage. Which in turn was branching o from hehaving multiple ear infections. In September of 201Ali had her rst set of tubes placed. March of 2015 hesecond set of tubes was placed in and her third set otubes, which are now t-tubes, was placed in Februarof this year.

Around April of last year I requested that Ali see

genetists because she was showing issues with heQt’s, which is an issue with how your heart pumps, bualso because something just didn’t feel right. Ali haher bone scan done and it was only after her genetistwas looking over her le again did she come across little sheet of paper that told us that the genetic testhat was done all those years ago showed that Ali alshad Mosaic Turners Syndrome. Somehow the resultwere placed in her le but no one was told the resulof the test. We still don’t know how the results goburied. Where some parents may have felt sadnesswas relieved. To me I had an answer to why she alwayhad ear infections, and why she couldn’t handle larggroup of people. That doesn’t mean I wasn’t upset athe hospital for keeping her results from us, but aftetalking to a lawyer we found out that any doctor thashe would have had to see, she was already seeing ohad seen. Other than an endo, that is.

Growth Hormone Defciency (GHD) Division News

Teresa Tucker MAGIC Foundation

Co-Founder and

Mom to Stephen

Hello GHD Families... Summer has arrived & I am sure that most of you are preparing forvacations, parties & family events. I myself am planning for my daughter’s wedding theweek before convention! It is going to be a crazy, hectic time, especially so close to ourconvention, but I am so very excited & know that the day will be here before we knowit... & it will y by too quickly. So, for those who are attending the convention... & I hopethat is all of you!!... if I look exhausted, you will understand. But I imagine that I will still

have a smile on my face, both for the joy of the wedding & the excitement of convention.I hope that you all have made your plans to attend & that I get to meet each & every oneof you. July 2016 will be a very memorable month! The paragraph below was posted inour Facebook group & I asked Lauren, Owen’s mom, if I could share it in our Newsletter.You just never know when you will have the opportunity to touch another life.

Last night at Reagan National Airport in Washington, DC while waiting to board our planehome to Orlando I noticed a young teenager (14) who had just sat down next to us with a small red cooler. Iwas the same Nutropin travel cooler we have for our son. I looked at my 7 year old son Owen and pointed outhis boy’s cooler. His eyes lit up. I turned to the young man and showed him our cooler and he immediatelylooked at our son and asked if he was on “the shots”? We all chatted about his journey, our son’s journeywhere he does his shots, etc. He even goes to the same Endo practice as my son! It was such a heartwarmingmoment for my boy, he talked about it all night. It was as if he met a celebrity! I’m not sure if his parents are

even a member of this group but I am just so thankful we briey met this amazing young man. He has madean impact on my son in more ways than he may realize.



Even though we had issues with the hospital wechoose to see the endocrinologist there, but thatleft us with an uneasy feeling. I choose this ocebecause I had friends that went there. But I nevershould have gone with what others say. I should have

just stayed with what I knew, and I knew the secondhospital was a great hospital, that my daughter’scardiologist was there. So when the rst oce left usfeeling uneasy we requested a second option fromthe second oce. I was left with a funny about this

doctor also because he was refusing to see Ali till hehad a genetic test in his hands, because Ali was tootall for a girl with Turner’s. After receiving the resultswe had our appointment with him. I still kick myselffor not going with Dr. Dranzin the rst time around.

The only issue I have with this man is he talks verysoftly and it is hard to hear him. Other than that, heis truly amazing. He talks to your child not at them.

Unfortunately at Ali’s last Endo appointment welearned that Ali’s growth has stopped. It hasn’tslowed down, it has stopped completely. At fouryears old, she stands at three feet tall and two inchesand is 35 pounds. When they did an X-ray of her handit showed that her hand structure was around threeyears old. The insurance company has just approvedAli for her growth hormone therapy so next weekshe will be starting her injections.

So, our story probably starts out like a lot of othefamilies who are aected by growth issues. Whenwas pregnant with my daughter Rylee, the docto

were concerned that not only was she measurinvery small, but that she wasn’t growing in the womat the rate they thought she should. We did genettesting, but didn’t come up with much. I had aultrasound just about every month to monitor heI loved getting these ultrasounds. It was my chancto see my little girl. But, the reason concerned meworried about her all the time. Towards the end of mpregnancy, they estimated she’d be born at aroun4 pounds. Luckily, during the last week or two, shhad a little spurt and was born at 5lbs 6oz. She wadenitely bigger than they expected, but still tinShe was my perfect little “peanut”, born about twweeks early. Thankfully, she was totally healthy…

just little. And that’s exactly how she stayed…littlI never really thought much of it, since I’m only 5’2and again, she was healthy. At around age 3, sh

just stopped growing. She stayed the same heigand weight for over a year. I remember asking hdoctor about it back then. They didn’t see anythinwrong with it; she was still on the growth chart..I remember correctly, she was somewhere betweethe 5th and the 10th percentiles for both height anweight. All I ever heard was, “She’ll catch up”, an“Being little isn’t so bad”. So, for the next sever

years, I really didn’t put much thought into threason behind her slow growth. As long as she wahealthy I was okay. She was just my “little Rylee”. Hfriends called her “cute” and “short” and for the mopart, it never bothered her.

A few years ago, when her friends started gointhrough growth spurts, and she was at the age owanting to go to the mall to shop with friends, thissue started coming up again. Not only was shalready shorter than everyone her age, but now shwas falling behind fast. Her best friend was noalmost a foot taller than her, along with just abou

all the other kids her age. Although good naturethe nicknames started bothering her. Shorty, Tinand Squirt were just a few. The kids didn’t say thein a mean way, and she knew that, but after a whiit got to her. Also, she was maturing out of the “littgirl” styled clothing, and wanted to wear the fashionher friends were, but she was still too little. Nothinshe liked t her. It wasn’t just about clothes. It wabecoming more and more obvious that her friendwere “growing up” and she wasn’t.

Idiopathic Short Stature

(ISS) Story



I remember one morning, we went to breakfast withher two best friends, their moms and one little sister.

The waitress handed her friends regular menus, andRylee and the little sister were handed kids menus.Something that may seem like no big deal to mostpeople infuriated her. She’s respectful, so she didn’tsay anything to the waitress, but I could see the lookin her eyes. She hated being looked at like a “littlekid”. Things like that happened all the time, and lit-tle by little it was bothering her more and more. Themore she complained about it, the more I looked atthe facts. There were several dierent periods of timeduring the years that her already slow growth wouldtotally stop. She still had “baby fat” in certain spots, al-though she was thin (if that makes sense) and alwaysactive. I just didn’t know there was even a possibilitythat something could be o. She was just short. Butnow that she had brought it to my attention again,I started thinking about the medical facts..the ideathat something really may be wrong. I nally broughtit up to her doctor again, who said they couldn’t re-

ally justify doing anything until she dropped to the3rd percentile for height. She was around the 5th atthe time. So, I put it on the back burner for the timebeing.

About two years ago, when Rylee was 11, I was talk-ing to a good friend of mine whose son was goingthrough some health issues. One of the things theywere dealing with was growth hormone deciency.She’s a very involved and educated Mom, and haddone a ton of research. As I was telling her about myconcerns, she started telling me about the things shehad noticed and how she came to learn about growth

hormone treatment. She suggested I look into tak-ing Rylee to a pediatric endocrinologist for testingAgain, I brought it to the attention of her doctor byphone. He said to bring her in for a height check tosee if she’d dropped. She had. She was nally at the3rd percentile. I asked him to please refer me to thepediatric endocrinologist here in town, and nally, hedid.

It wasn’t easy getting an appointment. They had no

openings for a new patient for close to 3 months. Sowe made the appointment and waited. When we -nally had our appointment, they asked a ton of fam-ily history questions, took some blood work, and didthe bone age testing. When the lab work came backeverything was normal. They didn’t see any kind odeciencies. When we went back to the oce fothe follow up, they read the bone age at being abouttwo years behind. That was the rst time I thoughtto myself that there really may be something to this

They measured her arm length, and said her armswere slightly long for her body size. I asked what thenext step was, but for reasons that I still don’t under-

stand, they were hesitant to do anything further. Atthis point, I still didn’t know enough to push the issueI assumed they knew what they were talking aboutWhen I relayed what happened to my friend, she im-mediately suggested I go for a second opinion, andsuggested I go to Duke. I asked our pediatrician if hewould refer us there, and although he didn’t reallyunderstand why, he sent the referral.

After an almost 4 month wait, we nally took the twohour drive up to Duke for her rst appointment. Theyredid the blood work, and of course asked the sameslew of family medical questions. This time I felt moreprepared, as I asked my friend a million questionsbefore the appointment. I asked them about theSTIM test, and if they would redo the bone age testI asked about the dierent types of diagnoses, suchas growth hormone deciency and ISS. I really thinkthey took it as far as they did partly because theycould tell I had done my research. By this time, Ryleewas already 13. She was still just barely at the 3rd per-centile. And although she had every symptom of pu-berty, she had not started her period. Her blood workwas still showing no signs of a deciency, but nownally things were being looked at more seriously

Her growth issues during my pregnancy, the severatimes she stopped growing altogether over the yearsher “delayed” menstrual cycle (they said they werecalling it delayed because she was showing all thesymptoms for 6 months but had not started yet), andthe results of the bone age test, were nally enoughfor them to think about a next step. That would bethe MRI of her brain. Rylee and I were both excitedbecause by now, they had told us her projected adultheight would be somewhere around 4’10”, and shewas very upset by the idea that she would be “tiny”all her life. Emotionally, over the last couple of years,it was nally taking a toll on her.



The nicknames were no longer cute, her friends lean-ing their arms on her head, although done good na-turedly, upset her, and always looking years youngerthan she was started to depress her. I knew I had todo something. So we went ahead with the MRI. Bythis point, the idea of growth hormone injections wasoating around. I read up on it and asked my friend alot of questions. I asked the doctor at Duke a millionquestions too.

The MRI came back totally normal. The doctor hesi-

tated to schedule a STIM test because of the insur-ance I have. She said it’s hard to get it approved whenthere is no deciency, and that if the STIM test cameback with passing numbers, our government fundedinsurance wouldn’t cover the injections. I was reallyupset by that, because by this point, we thought wewere getting somewhere, and it was sounding like allthis work might be for nothing. The doctor said shewould talk to her colleagues and see if they agreedwith her idea of an ISS diagnosis based on all thendings. After a couple of days, I got an email fromher saying that she consulted with the other doctorsat Duke, and that yes, Rylee was ocially diagnosedwith Idiopathic Short Stature.

I was really excited to get an actual diagnosis. So wasRylee. She actually told several of her friends that shenally knew why she was so short. Even though theactuality of the ISS diagnosis means she is short withno known medical reason why, the fact that we had adiagnosis was a huge step. What came next was hon-estly a bit crazy. The doctor knew I wanted Rylee tobe put on growth hormone injections. She sent meanother email that basically said she didn’t know ifmy insurance would agree, but that she would try to

get Rylee approved. After about a week, I got a callfrom the pharmaceutical company to set up delivery.I was actually very confused! Did that mean our insur-ance actually approved her?

I had heard that sometimes the manufacturer hasan assistance program that would help by sendinga short term supply if you’re denied and have to ap-peal with the insurance company. Was that what washappening? I had no idea. I never got an email or callsaying we were approved. Just the pharmacy ask-ing a bunch of questions and wanting to know whenand where to send the starter package. I made the

arrangements and told Rylee. She was SO excited!She kept telling everyone, “I’m not gonna be tiny any-more!”

The next few steps happened very fast. The starterpackage arrived. The call from the nurse came toschedule our training. The rest of the supplies arrived.And we were o. My kiddo has done her injectionsby herself (with supervision of course) from that very t ith th It’ b b t th th

that it’s working. Her feet have grown almost two fulsizes and her pants are slowly looking shorter. We goto Duke for a follow up in about a month and Ryleeand I are both very anxious to get an “ocial” heighton her.

The last few months have been such a validation fome. To nally get some answers, and even more, tonally be heard and taken seriously, has been incredible. So many people just don’t understand. I get somany people asking why I’m “making” her give herself

a shot every day. “It’s not a bad thing to be short!” theysay. They don’t understand that it’s not just about be-ing short. That there are reasons for it. And that thosereasons aect her.

All I can say to those people is that unless they liveour lives, or walk in our shoes, they really have no sayin what I decide is best for my daughter. I know I’mdoing what’s best for her physically and emotionallyand we are both excited to see where this road wiltake her.

growing times summer 2016

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