I'm am way behind in updating our blog and am working on a 1st birthday post but I just wanted to get the boring medical stuff updated before I move on to more important things:). We met with Cam's genetic counselor, the other Cam, about his new diagnosis of Hypochondroplasia (from now on I'm going to refer to it as "hypo" because, let's be honest, it's the longest word ever) just to get a little more information about it and ask her a million questions. We played phone tag for about a week (I'm still working on being a better voicemail checker...) and we finally decided on a time to meet the next morning. This is just another example of how amazing the genetics department at Levine Children's Hospital has been through all of this. They have gotten us in super-fast for appointments that usually take months to schedule and have gone above and beyond to make us feel comfortable. I really can't say enough about them!
Anyway, Genetic Counselor Cam explained at our meeting that hypo is very similar to achondroplasia but that Camden may grow to be a little taller than expected and we may be able to use growth hormone treatments that we wouldn't have been able to use with achondroplasia. Generally, hypo is milder than achondroplasia. The mutation for hypo is in the same gene as achon (the FGFR3 gene) but it occurs at a different position within the gene. We have to monitor the same things and he will still be measured on the achon growth chart. There is still a risk for spinal compression so he will have to be careful about rough sports and get regular CT scans.
We went for Cam's 12 month well visit yesterday (it was scheduled for today but he's been sick so I took him in yesterday) and he has almost fallen off the charts for average height kids but was in the 75th percentile for height on the achon chart! Go Cammers! He escaped getting his shots since he had a fever so we have to go back for those once he's better. We are going to an ENT in April to talk about having his adenoids and tonsils removed so he can breathe better and hopefully won't invite us to anymore late-night dance parties in his room (as much as we love those, we also love sleeping too:)). Kids with dwarfism often have issues with breathing/snoring and sleep apnea, so it's a pretty common procedure. After that, hopefully there won't be anymore big doctor visits other than check-ups. He needs a break!
