Saturday, November 7, 2009

Nikki's Appt

My oldest daughter Nikki had an appt with the geneticist yesterday. It was a great appt. I feel very blessed to have found caring and understanding doctors!

So, she said Nikki seems to have a mild form of Ehlers-Danlos Hypermobile type. She gave me some advice like no contact sports, swimming is a good one! Nikki was very happy that she did say that horse back is ok. No horse jumping, but beginner riding would be ok. She said that she wants to watch Nikki as she gets older, and horomones kick in. Every woman with EDS knows that when that time of the month comes be prepared to pad all joints and live in a padded room! haha. She said she is less concerned about Nikki because she is sure there will be more knowledge and testing and research on this type of EDS by the time Nikki is old enough to understand what the it means for her.

Amazingly enough, she said that she was more worried about me. Hahaha. She said that since there is not as much known about EDS now, and I seem to be having a great deal of complications from what would usually be a minor form of EDS, she is worried they might be missing something. She wants to do genetic testing on me to see if there is some mutation that they can pick up that might mimic the EDS type 3, but genetically look different. She has a contact in Seattle, a genetic genius (haha) that really has pushed forward the research for EDS and Marfans. Anyway, she wants to get a hold of him first and ask some questions about which tests to do.

We talked about the seizures, and naturally she has some curious thoughts about whether that can be a part of this EDS that I have, or a part of the neck/head instability that is a complication of the EDS, or if it is all together different, and a new onset of epilepsy. That peaked her interest enough the hit the books a couple of times during the appt and raise more questions for her to research. I like doctors who are willing to go out of their way and research for you!!! =)

She said I have a lot of very valid questions regarding how affected we are and the complications I am facing versus the clinical picture I have, about my daughter and how it will affect her future since she has quite a bit of growing to do, and about the type of EDS we have. EDS Hypermobile type is apparently the most common type of EDS, however it has the biggest range of affectiveness and the least known about it. No actual gene has been pinpointed as the cause.

In the end I was very satisfied that she addressed all of my questions and concerns about my kiddos and myself. She gave me a name of a neurosurgeon to give to my doc and an orthopedic to get my wrist and hips checked out with. She said both of them are very familiar with EDS.

Oh, and she wants me to bring in Kimber when Josh has his follow up so she can check her out, especially since she had the neck injury. She thinks it is very possibly related to EDS.

I am very grateful God has blessed us with her!

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