Discussions By Condition: I cannot get a diagnosis.

Syndrome "markers", no syndrome

Posted In: I cannot get a diagnosis. 0 Replies
  • Posted By: kaoldt
  • October 11, 2009
  • 09:12 AM

My youngest son is now almost 9. My pg with him was difficult and at the time I attributed it to getting pg too soon after having daughter (both older siblings are quite healthy). I was also taking Paxil while pg (PPD after daughter's birth), but I had been assured at the time by mother risk in Ontario that it was safe. Ha. I had placenta previa, then pre-term labor. I was put on bedrest but then induced 4 wks early because the OB said he wasn't growing and would do much better out than in. In the delivery room the OB and pediatrician started arguing about why I was induced. OB said baby was IUGR and ped said he was just preemie. He weighed 5 lbs even, but was 4 lbs 10 oz when I took him home. First night baby had one episode of breathing problems, but after that was fine. They told me early on that they thought he had craniosynostosis because his head was so small but after seeing a specialist I was told that his skull wasn't prematurely fused, although she felt it would be good to follow him for a year. He was hospitalized for RSV early on and was in and out of the hospital for breathing/dehydration difficulties quite a few times by age 5. He has had a long history of eating problems. Basically he didn't like food. Didn't like breast milk, formula or most regular foods. His diet was mostly liquid until about 5 yrs because that was all we could get into him. Visiting public health nurses tried to help me get him to eat to no avail. I was told he was failure to thrive, which made me feel like a failure. It has been a huge struggle getting him to eat and the first time he actually stated he was hungry was after he turned 6. He didn't like the feel of foods in his mouth either, I think that was a big part of it. He has always been a bit constipated and will complain that his tummy hurts on occasion. When he was 3 his new ped sent us to a genetics dr. but so far all we've heard is that he has "markers of a syndrome but maybe one we don't know about yet". He has: delayed development (growth, meeting milestones later than usual), low muscle tone (eyelids had to be raised because muscle didn't develop and his neck muscles were beginning to be affected because he had to hold his head back to see), requires glasses but hates to wear them, sensitivity to light and sometimes loud noises, ears are a bit lower than normal, thin face, little finger that bends in, teeth developed with little/no enamel and permanent teeth coming in crooked, has a little "nodule" on middle/bottom of ribcage. Respiratory illnesses have been frequent. Sometimes in the morning I notice he wakes up very shaky and I will make sure he gets some juice down which seems to help. I think he has hyopglycemia but drs can't seem to verify that but tell me to keep trying. He was sent to an endocrinologist without any real help or direction given. We were told to consider giving him human growth hormone but if all he's going to get out of it is maybe an extra inch, I don't think it's worth putting him through the misery. Very busy child, I'm sure ADD (although not officially diagnosed), talks to anyone who will listen to him. Often I have people ask me if he's autistic. I don't think he is, but he does seem to spend a lot of time in his imagination and loves to sing and wants to learn to play the "'lectric guitar" so he can be a rock star. Academically, he is behind. He does well with math, but cannot read yet. Other subjects are affected because of his reading difficulties. While usually happy, he does have a temper and will get out of control (he was suspended in kindergarten for throwing a chair, hitting his teacher and locking himself in the bathroom). He does try to behave though. We currently homeschool. I have heard him refer to himself as the "stupid kid" which breaks my heart. He can be hilarious and spends a lot of his time trying to get people to laugh at his antics. At almost 9 yrs he is more like a 5 or 6 yr old not only in size but in his social development. He does not seem to relate to children his age and does not have any real friends his age. He plays most often with his older siblings, but seems to feel like he fits right in with grown ups and will chat just about anyone up. He doesn't seem to be able to "read" situations and know what type of behavior is appropriate/inappropriate most of the time.

Anyway, I came across Williams-Beuren syndrome online today. He seems to have many of the same things going on except that while he may have developmental delays or learning disabilities, he does not have mental retardation. He doesn't seem to have any heart defects although he occasionally complains that his heart hurts - but usually when it's his turn to help with dishes. We did take him to a cardiologist just in case though. Cardiologist says he's fine. He also doesn't seem to have the facial features. Anyone familiar with this syndrome have any suggestions of similar syndromes that he might come under?

I love my little boy dearly and if we could put a name to whatever it is he has "syndrome markers" of, I feel that I would be better able to help him.

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