Wednesday, March 25, 2009

Cartilage Hair Hypoplasia - Confirmed

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.



  1. I'm sure it's somewhat of a relief to get the confirmation of Evan's CHH. At least now, you do know what you'll be dealing with. I met a very nice young family at our local LPA Chapter get together last wkend that has a 20 month old son with CHH. I am pretty sure she said you both have spoken, or at least crossed paths. They are from Indiana and her son's name is Austin (such a cutie). If for some reason you haven't corresponded, please let me know and I can get you her contact info.

    Take care!!!

  2. My 10 year old daughter was just diagnosed with CHH and I am looking for others who have this rare condition.

  3. Here is some additional information about the "genetics" of this condition that was written by our Genetic Counselor and other genetic professionals: I hope it helps. Thanks, AccessDNA

  4. hi my name is laura im 24, i live in lancashire in england in the uk. i have CHH. I was diagnosed when i was the age of 3. manage my condition well i live a healthy life, and i also have a 5 year old daughter called madison.I manage to work and i live a happy life all considered.

  5. Hi my name is Charlene,I have a 7 year old daughter with CHH. She was diagnosed with CHH when she was about 6 months old.She has been pretty healthy,but we continue to hold all live vaccinations and get yearly check-ups. She is appr. 37 inches tall and wears a 3T/4T in clothes. She is your average 7 y.o and everyone loves her. She is ,of course, the smallest one in her class but does just fine. We have a 2 y.o little boy of average ht.My husband and I are both average height, but undoubtly are both carriers of the CHH gene.We have never been tested but our daughter has. We have been through all the moments of uncertainty and stessful thoughts of wondering about Brooke's health and growth but thank God she has been great. I still have lots of questions and have really been touched to read all of comments posted. I have never really ever commented before, but would enjoy corresponding with other families with CHH