Short Stature Support Group
Shortness is a vague term without a precise definition and with significant relativity to context. Because of the lack of preciseness, there is often disagreement about the degree of shortness that should be called short.
I am the mother of a beautifull 14.5 month son. He has not grown since he was 6 months old. My husband and I had no idea what we were in for. In January 2011, we learned that there was clearly a problem. Our son has been to see an Endocrinologist, Gastroenterologist, Geneticist, had a full MRI brain scan, skeletal xrays, and much blood drawn. We have been quite diligent for almost 7 months.
His brain scan came back normal - with the slight exception of a missing Anterior Commisure (white matter joining the left/right brain). Gastro results show that he is able to absorb fats and proteins. Endocrinology has determined that his pituatary and hypothalmus are normal in size. He was tested to see if he was producing enough human growth hormone and he is. Genetics determined that his initial 46 chromosomes are present and normal. They did a further SNP Micro Array and that too was normal. Now what? What does all this mean? Am I seeing the right specialists? I have a almost 15 month old the size of a 6 month old. He is super sweet, very smart, slightly developmentally behind but our world. He does not have a known syndrome. I need help. This seems like such an endless process. I don't know whether to quit and leave him alone or keep searching for an answer. Aside from his size, there is absolutely NOTHING wrong. Is there anyone in the same boat that can shed some light on this? Much thanks in advance.
His brain scan came back normal - with the slight exception of a missing Anterior Commisure (white matter joining the left/right brain). Gastro results show that he is able to absorb fats and proteins. Endocrinology has determined that his pituatary and hypothalmus are normal in size. He was tested to see if he was producing enough human growth hormone and he is. Genetics determined that his initial 46 chromosomes are present and normal. They did a further SNP Micro Array and that too was normal. Now what? What does all this mean? Am I seeing the right specialists? I have a almost 15 month old the size of a 6 month old. He is super sweet, very smart, slightly developmentally behind but our world. He does not have a known syndrome. I need help. This seems like such an endless process. I don't know whether to quit and leave him alone or keep searching for an answer. Aside from his size, there is absolutely NOTHING wrong. Is there anyone in the same boat that can shed some light on this? Much thanks in advance.
deleted_user
...and he doesn't have any kind of dwarfism? I would say just try alternate geneticists, the symptoms can be such a mystery sometimes it takes a few to crack the code.
deleted_user
I am going through the same thing you are. My baby will be 3 in December and he is the size of a 1 year old. Cameron is very smart for his age. I joined this group trying to find out where to go next or what to do! We have seen the endocrinologist and the genetic department. All of his tests are came back normal. I am in the same boat and its very fusterating!!
neilster
Can you tell me / us the size and weight of your son for researching for you/asking around? I have a few senior medical specialists in my extended family i could run it by this weekend i'll be seeing them. Any info questions, that'll help.
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