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.