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David started life off without anyone knowing he had a genetic condition. He had a scrawny body and weight gain issues and it was assumed to be my issue (I should stop breastfeeding, feed him more, etc). This was actually due to hormone deficiencies due to his genetic condition. His genetic condition was discovered by accident when he was tested along with his older sisters for autism genes, since the girls had both been diagnosed on the spectrum. Their genes showed non-specific, non-autism related differences, but then surprise! David had an unexpected result, 3q duplication and 1p deletion, which turned out to be an unbalanced translocation that he inherited from me (half of my balanced translocation, which I didn’t know I had). Even with this knowledge, the doctors didn’t do or recommend anything other than screening his heart, kidneys, etc (all fine). I had to do the research myself and suspecting hormones were involved, I had to push for endocrine testing. The doctors were frankly very surprised when the tests showed that he was low in both growth hormone and thyroid hormone. Once this was corrected, he tripled his height and weight within the year and his build started to look like a normal child’s body. He was on growth hormone for 2 years, and continues to maintain his thyroid levels on medication. It’s still so scary to think how easily these things could have been missed, and he could have ended up with short stature and more severe cognitive deficiencies if these things had not been discovered when they were. God was watching out for this kid.
