Tuesday, February 17, 2009

Diagnosis Please......

So, I feel like I should be holding a hat on the street corner begging for a diagnosis. It's just odd to be the person (or, the parent of a person) who Doctors can't diagnose. It's definitely weird to be the statistic.

I spoke with our geneticist who mentioned that our specialist at Cedar Sinai, along with one of her colleagues (I quickly googled him and I think he might be the director.....not 100% sure on that though) feel pretty strongly that Evan has Cartilage Hair Hypoplasia (CHH). They spoke with a Doctor from Germany that was visiting the Greenwood Genetic Center in South Carolina (http://www.ggc.org). Apparently his is a famous Doctor in the Skeletal Dysplasia community. His name is Dr. Jurgen Spranger (http://www.esdn.org). Remember my previous post were I commented on putting stickers on a USA map for each state that I have consulted with a Doctor? Well, I guess I need a world map now. Who would have ever guessed that we would need to go International to diagnose my son?!?!?

They know they gene for CHH. It is an autosomal recessive disorder (meaning we would have a 25% chance of this happening every pregnancy). It also means we each inherited this gene from one of our parents, and they from one of theirs, etc. We just were lucky enough to be the two people who both had the mutation and decided to get married and have kids! I read somewhere that the chance of getting CHH is something like 1 in 1,150,000. I guess that is a tricky stat because if you both have the gene the chances are 1 in 4. lol! I bit more likely! The gene is called the RMRP gene and the mutation is found on chromosome 9. I do not know how much the test is at this point but I'm sure it's cheap and covered 100% by insurance.......right? RIGHT?!?!?!? I can't wait for the insurance battles to start. I can use all my free time for that.

Fun Fact: This disorder is more common in the Amish community. Hmmmm, how do I get a hold of Amish people to talk about this condition. I guess I'll have to wait on that.

Another factor that kind of made things click with this diagnosis is that anemia is common. Just yesterday we found out Evan is anemic. One thing this condition can cause is a week immune syndrome. The cases vary greatly so hopefully Evan will not have too much of a problem with that.

We've had two Doctors appointments this week so far and we have another one tomorrow. Erin and Evan also spent last night at the hospital so Evan could have a sleep test done. He screamed the whole time and neither of them got much sleep. That was a tough one. Today he had an MRI to check for fluid build up and some problem at the base of his skull where the spine starts (common with some forms of dwarfism). He got a clean bill of health in both areas so that's GREAT!

More to come!



  1. Have yall tried contacting the LPA medical advisory board? You may have - I'm a little behind - just found your blog a few days ago. Here's the link, though:

  2. The sleep study ain't much fun, is it? We got pretty lucky that the clinic ours was done through contracts with a Residence Inn for when they're full so we got to sleep in a real bed while Caitlin slept in a crib next to us... Took us three weeks to get the results, though, so congrats on getting those already! Glad to hear the MRI went well as well...