Let me try to really fill in the holes from the beginning. I had a perfectly normal pregnancy with Carson and carried him to 39 weeks. We had a couple of ultrasounds and they also looked fine. I am told that this is pretty typical in hypochondroplasia. Carson was 7 pounds 6 ounces (I think, you've got to give me a break - he's the third), anyhow his measurements were normal at birth. At his two week check up he was 7 pounds 13 ounces and 19 1/4 inches long which put him in the 25% for weight and the 10% for height. By two months old he had dropped down on the charts a little bit falling in the 10% for weight and the 5% for height but otherwise everything seemed fine. He was a good baby and always happy. His four month checkup showed a further drop on the charts (5% weight, <3% height) and I know at the time we were starting to wonder what was going on. Our two older kids had been pretty close to the average on everything. I should note also that as his height and weight dropped off his head circumference was climbing up the charts. The doctor felt that all kids were different and we really couldn't judge Carson's progress against his older siblings. Tom and I both felt that could be true and Carson seemed happy and healthy so we went with it. We were also starting to notice that Carson seemed kind of late in other things in comparison to our other kids. He was late to sit up and had a hard time moving solid food to the back of his mouth. By his year check up, Carson's head circumference was in the 99+% and his height and weight were barely in the first percentile. After the seizures we were starting to get worried so we asked if we should see an endocrinologist. The doctor agreed but thought we should draw some lab work first and do a bone age x-ray. At a year he wasn't standing or walking - I guess its really hard when your head is big and your body is little. Interestingly enough, my parents had mentioned the possibility of Carson having some form of drawfism but since Carson didn't have any of the outward features of achondroplasia we didn't think it was possible. All of the lab work the doctor requested came back perfectly normal but Carson's bone age was grossly abnormal. I think we did the x-ray right at 15 months and it came back showing 9 months or less. Again we thought we would see an endocrinologist and the doctor drew a few more labs and decided we should take some measurements. Poor kid - we probably spent 30 minutes stretching him out and measuring this that and the other. Only problem, the doc couldn't really find any reference to compare them too so they ended up being pretty useless. During this 3 to 4 month period of time Tom and I were both searching the internet trying to come up with something that looked like it fit what Carson had and our doctor was doing the same. I don't know exactly when I found an article on Gene Reviews about hypochondroplasia but I remember reading it and thinking "this is it". Our doctor, in his research came across hypo and thought the same thing. I remember talking to him and thinking that we finally knew what Carson had and hurray we can figure out what to do. Not so easy!! The first thing we needed to do was draw blood for a cytogenetics panel to be sent to Canada to try and get DNA confirmation for hypochondroplasia. This required 4 weeks of fighting with our insurance company that this test was really necessary and that there was really only one place in North America that could do the test. Once we finally got approval and sent the blood we found out that the test take 6 to 8 weeks to complete. During this period of time we were just on hold. After about 7 1/2 weeks the doctor and I were talking almost every day just waiting and him trying to remind me that it could come back negative and that Carson could still be diagnosed by ruling out everything else. I know it sounds crazy but I just wanted the test to come back positive for hypochondroplasia so we could form a plan of care. After 8 weeks and a couple of days, I got my wish and we finally confirmed Carson's diagnosis.
No comments:
Post a Comment