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Pots And Vascular Eds


Ctat333
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Thank you ChristyD!!!! I've been expecting and accepting an EDS Type III diagnosis. I was given information last night that has made me a little unsure of that now. Trying to find as much information as I can!

Thank you again!

~ Alison ~

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There can also be overlaps between the various types so it's never quite as clear as it seems like it is with having one type or another.

The inspire site has loads of good info though.

Good Luck Alison!!

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Any doctor that's knowledgeable can actually diagnose any form of EDS. However, there aren't that many doctors out there that are truly knowledgeable. Geneticists are a decent bet although not all of them are familiar either. I know my neurosurgeon will diagnose EDS but that's because he has taken a special interest in it due to the frequency of chiari and or cervical instability in the EDS population. I think, from what I have gleaned on the forums, that seems to be how it often works.... if the doc has a speciality that somehow connects to EDS, they tend to become interested and educate themselves. There are good resources at www.ednf.org that explain diagnostic criteria for each type of EDS.

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Sorry for such a long time since a reply. I have been busy researching via the Inspire forum. I plan on updating more thoroughly later on, but for right now here is a short summary:

My family is thought to have the rare haploinsufficiency mutation of vEDS. It is still vascular Ehlers Danlos, but it is associated with a longer life expectancy and a later onset of complications, which are usually only vascular. In my family many people have a very thin, translucent skin. You can easily see our veins running over our chest, abdomen, legs, back, breasts. We look like roadmaps ha ha! Many of us also bruise extensively. After doing some family research, we found we have a history of aneurysms.

For the majority of my journey towards diagnosis, I focused on POTS and Hypermobility Ehlers Danlos. This vEDS has really thrown us for a loop!! I completely expected and accepted that I had hypermobility Ehlers Danlos, and that was the cause of my POTS. Apparently not lol. I meet with geneticist Dr. Wilson in Dallas tommorow. My Mom will be coming with me to my appointment,

And we are both hoping to get more information and clarification. If we can convince my insurance company pay for it, he's also going to order a genetic test.

I will post more later, and Will definitely update everybody on my appointment tomorrow. Back to my research haha :)

~ Alison ~

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Wow, very interesting research. I hope your appointment tomorrow goes well.

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IceLizard, it's been incredibly interesting. I know nothing about genetics, so I have been taking a crash course in Genetics 101 haha. In case anyone is interested, below is the link to the NCBI article regarding COL3A1 haploinsufficiency mutations in Vascular Ehlers Danlos.

http://www.ncbi.nlm.nih.gov/pubmed/21637106

~ Alison ~

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