Discussions By Condition: I cannot get a diagnosis.

Child with growth and development problems

Posted In: I cannot get a diagnosis. 0 Replies
  • Posted By: Wilton3
  • March 13, 2013
  • 08:22 PM

My son was born by elective c-section because he was so small. He was low birth weight 3lb 15oz at 38 weeks and was diagnosed as 'failure to thrive'. He had trouble feeding and was tube fed at first. He has always been small and had alot of difficulty putting on weight. All of his motor skills were delayed, couldn't sit alone until 15 months, didn't walk until he was 2 and a half. Not long ago we were told that he has hypermobility in his joints (meaning he is extra flexible). He's had an x-ray and MRI scan on his spine, both came back as normal. After genetics testing, we were told he has a small piece missing on the top of chromosome 7 (which I think is the small arm of the chromosome, aka chromosome 7p), which I was also tested for, and I have the same thing missing (because of the fact that I had no such problems as a child, the doctors have classed this as a normal variant, and are no longer looking into it). His biological father cannot be contacted for tests. I have done research on this and found that some parts of chromosome 7 are related to growth and development. Things like Laron's syndrome and dwarfism keep popping up. My son is now 4 years old, weighs about 23lbs, fits into 1 1/2 - 2 year old clothes, and just started growth hormone therapy yesterday. Although his endocrinologist said that he does not have growth hormone deficiency, there are problems with his growth hormone receptors, something about not being able to connect to the growth hormone properly.
If anyone recognises what I have described please get in touch, if even just to be able to talk to other parents that are going through the same thing. Thanks.

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