Child has an unknown syndrome. Anyone in the same boat? - Mothering Forums

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#1 of 7 Old 04-12-2013, 02:32 PM - Thread Starter
 
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Hi everyone. My son is 20 months old. He was born with foot deformities (congenital vertical talus), bitemperal narrowing, low nasal bridge, hyper flexible joints, unibrow etc. Down's syndrome and William's syndrome have been ruled out and we still don't know what he has. I was hoping to connect with someone who can sympathize. I'm feeling very alone. Thanks. 


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#2 of 7 Old 04-12-2013, 10:30 PM
 
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Welcome mama. Hopefully someone else can pop in and share some of their insights. 


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#3 of 7 Old 04-13-2013, 09:59 AM
 
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DS1 turns 4 this month. He has a PDD-NOS dx which I do feel is correct because he is not NT at all. It doesn't explain his physical issues. I am on my iPad so I won't go into great detail but moderate hypotonia, epicanthal folds, palmer's creases, very close set eyes, has to wear orthotics, hyperflexiable joints as well, he also has increasing larger sections of his skin that is either hypo pigmented or hyper pigmented, almost like large cafe au lait spots except he was not born with them. We did genetic testing which showed duplications in a small section but the geneticist says it wasn't the answer we were looking or, basically it explained nothing. We just did parental genetic studies yesterday because his original testing was 4,500 which insurance did not cover. We are still making payments on it from last summer. We will see if the duplication is a family variant or not. The geneticist is more concerned about a genetic neurological disorder which is skin changes is a symptom off then trying to do any more testing about his other issues. we really don't have limitless money to pursue more testing for a needle in a haystack so at this point, we are focusing only on therapy for PDD-NOS which may or may not be connected and is not cheap by any means. His OT, speech, social skills therapies (we recently dropped PT for lack of money) bills are killing us but he is making such progress. Cognitively DS1 is delayed and for all purposes functions like a much younger child. When he was younger, the not knowing was killing me. I can't say I am completely at peace with it but now I've just realized that maybe we will never know the entire puzzle of DS1, just pieces perhaps.

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#4 of 7 Old 04-13-2013, 06:26 PM
 
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My son has a metabolic condition. We know he presented with carnitine deficiency. We know some things from his skin biopsy (ruled out known conditions except one which can't be for sure ruled out in skin, showed significant abnormalities though).

So we know something of what his condition does but we don't have a name yet or prognosis. It's been 6 years since we first realized his health issues were metabolic and the carnitine deficiency was treated.

We did a DNA sequence and found mutations that are likely be significant. However, they don't know what they mean yet. So we treat what we know and wait. I always assumed genetic conditions were easier to diagnose than the metabolic conditions. I guess not. greensad.gif I know it's hard. Many hugs to you.

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#5 of 7 Old 04-15-2013, 04:24 PM - Thread Starter
 
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Thanks for replying, ladies. My son also has epicanthal folds, narrowly set eyes and a large spot on the back of his head (present at birth) that looks like a cafe latte mark. He has a crease all the way around both thumbs and super flexible fingers/toes. He has gone from globally delayed (diagnosed at 8 months) to cognitively delayed (diagnosed at 19 months). We have not done an entire workup with a geneticist because it is soooo expensive. I was told $4,000 for the first visit with follow ups needed. Yikes! His doctor visually ruled out Down's syndrome and we did a very specific test for William's Syndrome which came back negative. Peony, this is a picture of my son at about three months of age. Does he look anything like your little boy? I am curious as they seem to have so much in common. 


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#6 of 7 Old 04-19-2013, 11:34 AM
 
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While my daughter has a lot of differences from your son, I can definitely sympathize with you. She will be 4 next week and is still undiagnosed. At this point the doctors are saying that she has a syndrome that has yet to be heard of. I understand how frustrating it can be to not have any answers. She was born with brain abnormalities and profoundly deaf, duane's syndrome and abnormal eye movements, is globally and cognitively delayed, and just started walking at 3 years old. She also has diabetes insipidus, autonomic dysfunction, recurrent fever syndrome, and has recently started having seizures as well. I hope you find answers. We have done every genetic work up they can think of running on her that would explain all of her symptoms and every test we have run has come back normal. Hopefully you get answers. Hugs!


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#7 of 7 Old 04-19-2013, 02:59 PM - Thread Starter
 
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Thanks for sharing your story with me. Your little girl sounds like she has so much going on. It must be frustrating not to have all the answers. :( Hugs to you and your sweet little one. 


Mama to Roger 9-14-2005 winky.gif, Erin 8-28-2007 flower.gif, Warren 8-10-2011 thumbsuck.gif and new little one due middle of June babyf.gif!!!!

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