Gevan’s Diagnosis: Cartilage-Hair Hypoplasia for sure!

When we went to Nashville for the conference one of the things we were  hoping to do was get a definitive diagnosis. Gevan’s doctors here have been slow to confirm Cartilage-Hair Hypoplasia because he does not have one of the more common issues associated with it: the immune deficiency.  The awesome thing, okay just one of the awesome things, about this conference is that you get to meet doctors of all kinds who specialize in skeletal dysplasias. Gevan had four appointments: geneticist, genetic counselor, orthopedist, and a nutritionist. But, wouldn’ t you know, we seemed to get confirmation after confirmation that Gevan does have CHH from other little people and that was just on the first night.

On that first night I met a lady named Ms. Lee who also has CHH. She picked Gevan out of the crowd during the newcomers luncheon. She knew he had CHH. Then I heard her talk and she had an accent that was a dead giveaway as to where she was from: Ms. Lee is a Cajun. In fact, she lives just an hour or so away from us. Ms. Lee is a real go getter. She had a running list of all of the CHH diagnosed little people and was ready to connect me to each and every one. I was so thankful for that. She is one amazing lady! What shocked me though is the number of little people here in southern Louisiana who have Cartilage-Hair Hypoplasia. This condition is supposed to be rare outside of Amish and Finnish populations but it isn’t all that rare around here. I now know at least 11 people from south LA who have this condition. That is enough to suspect that we had a Finnish or Amish ancestor who introduced it to our people. On about day three we got to attend a workshop specifically for Cartilage-Hair Hypoplasia and I asked the geneticist about the number of CHH diagnosis’ here in south LA and she said she had suspected that for a while and that some genealogical research may be in order.

All of these photos were taken by Gevan from inside the car. I didn’t even know he was snapping away. He is quite the photographer!

In any case, no matter where it came from, during our doctor visits we learned that since Gevan has not displayed any of the immune problems then it is not likely that he ever will. I cannot tell you what a relief that is for us. I have always had this fear that he would develop these problems later on. It is so good to know that he probably won’t.

On another note, he won’t ever grow more hair either.

I think that bothers him more than anything. The fine, sparse hair that he does have is barely noticeable from far away. Ms. Lee did tell me about a place in New Orleans that can perform a procedure to give him replacement hair but it is a costly procedure. I mean, they offer $500 off coupons if you know what I mean. *sigh*

But that is okay. My baby is healthy. And he is growing up.

We did discover that the issues with his elbow (they have been causing pain for some time now) may require surgery. We will have to take a trip to Maryland to the John Hopkins hospital to take care of it. We’ll be planning that sometime in the future.

Other than that he does have the stomach issues associated with CHH – I think. I say that because I have the same issues so I’m not sure if it is CHH related or not. It could be a bit of both. Stomach problems tend to be prevelent in our family.

I learned so much while we were there. I am so grateful that we were able to go. We now have a wonderful circle of support and answers that we didn’t have just three months ago.

I also learned a lot from Gevan. I used to hardly ever blog or write about his condition because I have always felt that certain things were his story to tell, not mine. That all changed at the conference. There, he overheard me speaking to lots of parents about how we wished there were more websites or resources devoted to parents of little people, especially average sized parents of little people just because we don’t know what it’s like and we can learn so much from each other. So after hearing about it a few times from a  few people Gevan comes to me and says, “Mom, you make websites. Why can’t you do one about raising little people?”

Great idea but I was still worried about sharing “his” story so I talked to him about it. My thirteen year old reassured me that this was “our” story and not just his and that if I could help another parent of a little person be a great mommy like me (his words) then I should.

I’m so proud of him.

Then he also decided that we should let other kids take part in a project that we had started. It’s called, “The Way I See It” and it consists of photographs taken by Gevan to show the family and others exactly how the world looks through his eyes. So we added that feature to the site. I’m just hoping that now we can get some other parents to participate with the site by contributing. Gevan hopes to get some more little people involved by taking pictures. Below is one of the photos he took and here is the site we created: Raising Little People. It is far from done but please let us know what you think!

Tagged as: Cartilage-Hair Hypoplasia, dwarfism, Little People, LPA Conference, Raising Little People