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My Special Angel

Dear Magic,

First I'd like to say my husband and I attended our first Magic Convention this July and we are really looking forward to the next one. We were so impressed with how wonderful everything was. There's so much effort put into MAGIC and it shows. You really do go all out for your families. Thank you for letting us be a part. We just learned about Magic and joined in April/May of this year. We have four children and our affected is our third.

I'd like to start my story by saying I had an unremarkable pregnancy (other than morning sickness, which seemed to be worse with my girls). All prenatal testing was okay, I did test slightly high for a three hour glucose but not enough to medicate. I craved sweets. The things that were really strange were my sonograms. I had five total, the first three I was told the baby was a boy, I was thrilled, being my last child was a boy and they could be playmates (not to mention clothes). Not quite three weeks before my due date I had my fourth sono, the doctor was concerned about an overabundance of amniotic fluid. I did have that but what I didn't have was a son. The tech said the baby is definitely a girl. I argued and said there's a mistake, how could three other tech's all say the same thing and be wrong? She pulled the old films to see why they thought the baby was a boy. When she came back she said if she had scanned me then, she would of thought the baby was a boy also. I was upset and confused. I called my doctors office and they said bring in the picture on my next appt. I did and they confirmed the sex of the baby as female. They sent me to their own technician for one more sono to make sure. She was 100% sure this baby was female. Now off to buy some baby girl clothes.

My daughter Charli was born on October 25, 1994 by scheduled cesarean. Everything went well. She was 8 lbs. 10 oz. 20 inches long. The nurses brought her into the recovery room to see me and she was beautiful. She was all bundled in warm blankets to try to raise her body temperature. Once I was back in my room they told me she was doing well, temp was normal. The next two days I spent a lot of time with Charli.

She wasn't eating well but the nurses said that would come. I bottle fed Charli, and like the rest of my children she was put on soy based formula, Prosobee, due to lactose intolerance. I was concerned about her genitalia, it was quite enlarged. I asked the nurse and she said that's normal, some little girls look like that. It might not look normal for four months. On day four she weighed 7 lbs. 14 oz. The pediatrician wasn't concerned. I took her for her week weigh in at the pediatricians office and she was now 7 lbs. 11 oz.. She's lost almost 1 lb. Dr. C. took one look at her genitalia and said she wasn't sure of her gender. I was to take her immediately to Children's hospital, they'll be waiting. I was numb, what did this mean? At the hospital they told me Charli may have both male and female genitalia and CAH. Upon physical exam she had very dry skin, the pediatric endocrinologist called her genitalia ambiguous. He wasn't sure where anything was. Where was she peeing from? There was no visible urethra or vagina. He said, if she did have a vagina she would need surgery so it could accommodate her in later years. After testing (Sonogram, and Chromosome) she was definitely a she, but did she have CAH? Her steroid levels came back high but not high enough to give a definite diagnosis. I was allowed to take her home but if she acted funny in any way, any diarrhea, or vomiting I was to rush her to the hospital. The endo wanted to see her back in 6 weeks to test again.

Six weeks later, Charli was doing well. She was sleeping through the night, she still wasn't eating well but I knew she was growing (wishful thinking). She seemed to choke on her bottles at first before she would get the hang of it and eat okay. At the endocrinologists she did well. She now weighed 10 lbs. but she didn't grow. No one said anything about her length, I surely didn't think it was important, I was concerned about her weight, and she was gaining. The endo said her genitalia looked better, maybe she wouldn't need surgery after all. I was elated. Charli and I were getting ready to leave the office to go get her blood drawn for her steroid levels when another doctor walked in expecting to see another patient. We were introduced and he asked to look at Charli, while asking me some routine questions. He then requested a thyroid work up. Charli's hands and feet were always like ice. She slept exceptionally well. She didn't eat well nor was she active. I didn't pay much attention to these things, I think I was so focused on her going into adrenal crisis anything calm was a blessing. This doctor said these are some of the main symptoms of hypothyroidism. On the way home my husband and I laughed, she's definitely not hyper. I completely misunderstood what the Dr. had said. I was just glad to have her tested for anything to make sure she was fine. Two days later, her endo called, he was very upset. He told me my daughter was hypothyroid,. I got very angry and said this baby is not hyper, he said no, hypo. He explained and said he never even thought about it because they test for this on the newborn state screen. I said how could they miss two, CAH and Hypothyroidism?

I took Charli in the next day to get her started on thyroid replacement. When I got there the doctors had called the Lab for Charli's newborn test results. The State said the results were normal but they didn't have the numbers. The doctors needed the numbers, so they were to call back when they found them. The numbers were never found, the Lab reran the original test (same filter paper and blood from birth). When the doctors received the original thyroid values they were drastically abnormal. Did someone forget to test my daughters blood or did someone say, I don't feel like testing this one, heck 1: 4,000, I'll let it slide? I truly hope I find out how this happened so maybe I can help prevent this from happening to another child.
Her original TSH was 307 and her T4 was 4.4. Now her TSH was 287 and the T4 was unregisterable, less than .25. They did a nuclear scan and couldn't find her gland at first. After looking for a while they found it behind her tongue. They also did a hemi-skeletal bone age, which I was told was normal weeks later. We went to start her treatment and learn how to administer it. The nurse who was to teach us said Charli has a classic case of hypothyroidism. She had so many symptoms, I felt like I really messed up. I asked her endo if these two diseases could be related, he said Congenital Adrenal Hyperplasia and Congenital Hypothyroidism have nothing to do with each other, they were not related. I thought they were both glands, so why not? Anyway, he said we should be glad they caught it now because after time there is irreversible brain damage. He said, in 6 weeks Charli will be a perfectly normal 3 month old. I felt so fortunate, if that other doctor had not came in our room by accident we would of been home and who knows when I would of realized something wasn't right. I didn't even notice how abnormal her appearance was (she strongly resembled a down's syndrome child).

Her treatment started immediately, (12-09-94) she was to take 50 mcg for the first 3 days and then 37.5 mcg everyday after. I was told I could mix her pill with water or formula. I did the water. I noticed a difference in Charli in a few days. At this time we were waiting for her steroid levels concerning the CAH to come back, they were taking much longer than the thyroid tests. As they were coming back the doctor called and said they had increased, which definitely leaned towards a diagnosis of CAH. We were soon going to learn how to give cortisol replacement also, that was scheduled for 12-20-94.

On 12-17 Charli threw up her cereal, she wasn't eating well and I forced her to eat more than she wanted. I figured I over fed her. The next day she vomited again then hour later the diarrhea started. I panicked. I called the hospital and told them we were on our way. They thought she was in adrenal crisis. She was admitted and testing was started immediately, spinal tap included, to rule out meningitis. They were going to start her on cortef right then but decided to do some blood levels first. Her electrolytes were good and she looked good so they said they'll wait, she's holding her own. The three days Charli and I were in the hospital I read every nurses manual they would lend me. I didn't understand everything I read but I learned quite a bit. Charli was still not keeping things down and she still had diarrhea. On 12-20, depending on some test results we may go home. Charli was getting better, they never did start the cortef, it seemed the synthroid kicked everything into gear. Her doctor said he didn't think that was possible but weirder things have happened. It made perfect sense to me. My theory was: The thyroid is the body's GO button, it's finally been pushed and things are beginning to work. To everyone's surprise, all of Charli's steroid levels were drastically lower. I was thrilled, she doesn't have CAH!!!! WRONG... The doctor said she definitely has a form of CAH. She may just be a carrier. Now we have to wait for her thyroid levels to be normal for a while and she'll have an ACTH stimulation test to see if she has CAH or not. Meanwhile, the whole family has been requested to have a DNA study done to see which of us has the CAH gene. Charli went home.

Christmas Eve 1994
Charli smiled for the very first time, it was priceless...

Charli was starting to develop some personality during the next few weeks, she seemed much more alert and she was eating better. On 1-10-95, Charli had her two month check up. Everything went well, she grew 2 inches. I did ask about her development, she didn't seem to be progressing like my other two children. The doctor didn't really acknowledge my question with an answer, she went to get someone else. A child development specialist took one look at Charli and made me an appointment with the Child Development Unit, then called for an interview with the Alliance For Infants. The developmental specialist thought she may need additional therapy which the Alliance could provide. Going home with much to think about, that's just what I did. As I thought I became afraid. Did Charli get caught in time? Was she all right? How far behind was she? I then proceeded to pull out all my baby books and records of the other kids. I started watching videos of my babies. I then realized, my daughter was more delayed than I ever dreamed. Charli couldn't do anything herself. I was so happy she was making some facial expressions but that's all she was doing, she was 3 months old now.

The people from the Alliance for Infants came to my home to examine and test Charli. They didn't understand what her condition had to do with hypothyroidism, we were all being educated. Charli was unable to follow objects past mid line. She could only bring her hands together if on her side or with help. She couldn't hold anything in her hands, if you placed it and wrapped her fingers around it she didn't know she had it. She was very tight fisted with thumbs indwelling, and she was extremely low toned. She responded to sight not sound, we weren't sure Charli could hear. Her response to the speaker was the same whether we used our voices or not. The one skill she mastered early was social, she loved television, it could amuse her because she could not amuse herself. She loved everyone and anyone that would talk to her. We scheduled an ABR (auditory brain response) hearing test. The test came back normal, we just had to wait.

During all of this, I consulted with her endocrinologist who thought I should leave well enough alone. He said "Charli is just fine, you are going to make her a psychological invalid, she was caught in time." Meanwhile, Charli was still clinically and biochemically hypothyroid. I do need to mention, her endocrinologist was not aware of the complications with Levothyroxine and soy based formulas. I learned this from reading the package insert of Synthroid. When I approached her doctor with this, he said I must be mistaken. I agreed, I must of misread it (I'm not real good with medical terminology). I went home, reread it and called Boots Pharmaceuticals. They explained how Synthroid clings to the soy and will pass through the feces instead of being absorbed into the body. They suggested I give the medication a couple hrs. before her first bottle. They also sent me a study (the only study done at this time) of the effects of soy based formula on hypothyroid children from 1965. I made several copies and distributed them to the endocrine office at our medical facility. During this time, I also changed the way I administered Charli's medication, I would wake up by 6:00 am, sneak it to her, then give her a pacifier while she slept to get as many hours as possible before her feeding. I'm so glad I never chose to mix it with formula in the beginning.

The next time I saw her doctor I asked what he thought, he said "How would I know about that, that study was done in 1965, but that's okay, we would just compensate with a higher dose if needed." It just so happens, at 4 months old Charli's TSH was still abnormal. He then increased her dose to 50 mcg. He did this around the same time I changed the way it was given. I wish I could remember the exact dates so I would know what helped her the most. Her TSH became normal when she was 5 months old. I think that's a long time but I'm not a doctor. I was torn between feeling obligated to her endo because I didn't have his knowledge and I felt without him where would she be? I surely didn't catch it, but neither did he and that upset me, had she of been diagnosed and treated properly, maybe she wouldn't be going through this.

Therapists worked with Charli 4 - 6 times a month, and what a learning experience. She has made major accomplishments since her therapy started in February of "95". I can't imagine where she would be without it. Charli is now 21 months old and is doing quite well, she is still delayed in some areas especially speech. Her hearing is fine. She doesn't miss a trick.

Now, since she's getting older, we're dealing with other issues. Charli doesn't seem to feel pain like she should. She needs constant repetition or she forgets what she's learned. She now gets therapy twice a month with consults in between. I've since switched endocrinologists. Her new pediatric endocrinologist has been wonderful, she's very much into research and I truly believe she's got my daughters best interest at heart. I'm glad I've found someone who listens to me and realizes I'm the only one who can speak for my child. She really encourages all my questions and if she doesn't have the answer, she'll find it. I wish I would of met her sooner.

This story was printed in The MAGIC Touch Newsletter, in 1996. Since then much has changed.

Charli is 3 now, she's no longer in the early intervention program, she has transitioned into the public school system. She receives private speech therapy from a wonderful language pathologist who has done wonders with her. She has a diagnosis of mild verbal apraxia, and dysexecutive syndrome, both of which are related to motor planning. She exhibits short term memory problems, which can be frustrating, most kids fake that... And she is still slightly low toned.

Charli has been able to feel pain for over a year now. I believe she has a high threshold for pain but she definitely feels it. When I presented this problem to one of the developmental doctors she was seeing, way back when, she thought Charli may have a lack of myelin. Myelin sheath is very dependent on thyroxine for its production, so I was told. She also said, if Charli was truly lacking myelin sheath, now being euthyroid, it may take approximately two years for full myelination. This made so much sense to me. I believe this doctor hit the nail on the head...

Charli now has a little brother, what a surprise he was... a blessing in disguise actually. They are 13 months apart and he has helped her immensely. I sometimes feel like I have twins. He's caught up to her in some areas, passed her in others, and she still has the lead in a few. If I make this sound competitive, it is. If it wasn't for him, I sometimes wonder what would stimulate her. They are very competitive and it's helped Charli tremendously. No time to lag back, she may miss out...

I would like to say to all parents who have children with thyroid disorders, educate yourself ! ! ! I can't stress this enough. Not all physician's offices supply parents with all the needed literature that fully educate us on these disorders. Ask questions, ask lots of questions... The only silly question is the question not asked. If your doctor won't answer your questions then its time to find another doctor. Keep a journal, write everything down, list questions so you won't forget... By keeping records of your child's lab results, you will become so in tune with them and have a much better understanding of how they are responding to their medication. You are your child's only advocate... We only get one shot at this, let's get it right...

My life has changed so much in the past few years, I have learned appreciation. I've always taken so much for granted, especially my perfectly healthy, normally developing children. Through Charli I've learned, no one is untouchable, and things aren't always perfect. Now, I look at things differently, every milestone reached has been a blessing and not an expectation. She has been my inspiration, she is my special Angel.

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