I spoke with the geneticist we are working with locally as they got the results back from the genetic testing. It turns out that Evan has 2 different mutations on the RMRP gene. They said that one mutation is similar to others they have seen and one is not similar to what they have documented. We should know more as time goes on as they will most likely want to test us now to see if we each contributed one of the mutations, etc.
Basically, we will need to work with our Hematologist closely to determine if his immune system is compromised at all. It’s looking like it may be a little bit, we just are not sure how much. He has a little bug now so the testing we can do is limited at this time. There is a spectrum of problems and effects that mutations in the RMRP can cause….or not cause. Each case is different and not every child has every problem/effect. Obviously it looks like Evan is not affected by the thin, sparse hair aspect of this condition. Hopefully, the immune system problems will be mild as well. It is common the not give children with CHH live vaccinations. The risk is just too high that they will develop problems as a result of those vaccinations. Chicken pox can pose a great risk as well. We’ll have to keep his daycare and school aware of this issue and keep an eye out for chicken pox in other children.
All things considered, I think things are going pretty well. He’s eating well and sleeping well. He has decent head control and has rolled from his stomach to his back numerous times already. He seems to be breathing well. He is still on oxygen at night at this time. Breathing problems do not seem to be in any of the literature on CHH, which is somewhat comforting.
I’ll post more as I learn more.