The Start of our Story

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.

Where Do I Start?

Almost two years into our journey it is difficult to know where to start.  Carson was born in December and for a period of time everything seemed very normal.  Although he was not like his two older siblings in his growth pattern, our pediatrician assured us that all kids are different.  On the standard growth charts he started out normal, about the 50th percentile across the board, but within a matter of weeks his head started to climb up the scale while his weight and height began to drop.  We didn't think much of it at the time but we were about to get a rude wake up call that something wasn't quite right.

On December 3rd, right before his first birthday, my mom called me at work to tell me that she had called an ambulance for Carson for what appeared to be a seizure.  Since he had been sick I assumed that it was a febrile seizure but was still concerned.  By the time Tom had made the 15 minute drive from the hospital where we work to my parent's house there had been more seizures and Carson came emergently to the hospital.  He ended up having eight seizures in a matter of hours with his oxygen levels falling sharply.  I think we can both say it was one of the worst days of our lives.  At the hospital we did a complete work up and they found . . . nothing.  We went home thinking is was a random thing related to him being sick.  About a week later, in the lobby of Red Lobster, he seized again.  And the seizures continued.  They could no longer be attributed to an illness and so we took Carson for an EEG and then to see a neurologist at Children's Hospital in Denver.  Again, they found nothing and we were told that he had idiopathic epilepsy and we started him on Keppra, which he continues to take.

The good thing about this was it made us start looking at Carson's whole picture and we began to get concerned that by his appointment at 15 months his head circumference was in the 99th+ percentile while his height and weight were in the first percentile.  Our pediatrician is great and we started a whole workup as to what might be going on.  Everything came back negative.  As parents who work in healthcare we used all the resources we had to try and find something that fit and nothing really did.  It must have been close to the same time, I found an article on hypochondroplasia on Gene Reviews and our pediatrician called me to say he thought this might be a possibility.  We took Carson in for more bloodwork which had to be sent to Canada to try and confirm this diagnosis.  After waiting eight weeks for results, our diagnosis was finally confirmed - hypochondroplasia.

This is just a nutshell of everything that has gone on so I will try and fill in the blanks in the next few weeks in order to help anyone else out there going through what we have.  Tom and I certainly know that being able to talk to people who have gone through similar experiences has been a big help, sometimes if nothing more than to vent a frustration.  Bear with us, we both work full time and our house is kind of crazy with three kids, three dogs and a a gecko but we'll do our best.