Ctat333 Posted April 10, 2014 Report Share Posted April 10, 2014 Does anyone on here know if POTS can be associated with vascular EDS, or if it is only the hypermobility type? Also would this board be a good place for Ehler Danlos questions, or is there another forum for that?Thank you!~ Alison ~ Quote Link to comment Share on other sites More sharing options...
Christy_D Posted April 10, 2014 Report Share Posted April 10, 2014 Here is a link to a EDS forum. My daughter has EDS hypermobility type and O.I.http://www.inspire.com/Christy Quote Link to comment Share on other sites More sharing options...
Ctat333 Posted April 10, 2014 Author Report Share Posted April 10, 2014 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 ~ Quote Link to comment Share on other sites More sharing options...
Chaos Posted April 10, 2014 Report Share Posted April 10, 2014 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!! Quote Link to comment Share on other sites More sharing options...
Katybug Posted April 10, 2014 Report Share Posted April 10, 2014 Also, all types od EDS can be associated with POTS or orthostatic intolerance. Quote Link to comment Share on other sites More sharing options...
LastUnicornLady Posted April 10, 2014 Report Share Posted April 10, 2014 I, too, am expecting a diagnosis of EDS III... My appointment is in about a month, and I'm a little nervous for it. Quote Link to comment Share on other sites More sharing options...
dkd Posted April 10, 2014 Report Share Posted April 10, 2014 Sorry, what kind of doctor can diagnose EDS? Quote Link to comment Share on other sites More sharing options...
LastUnicornLady Posted April 11, 2014 Report Share Posted April 11, 2014 I think I've heard that any knowledgeable doctor can diagnose EDS-HT/EDS III, since diagnosis is based on a clinical exam and family history. However, I believe that a geneticist is required to diagnose/rule out other types of EDS. At least, that's what I had thought. If I'm wrong, someone please correct me. Quote Link to comment Share on other sites More sharing options...
Katybug Posted April 11, 2014 Report Share Posted April 11, 2014 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. Quote Link to comment Share on other sites More sharing options...
Christy_D Posted April 11, 2014 Report Share Posted April 11, 2014 My daughter was diagnosed by a geneticist. Quote Link to comment Share on other sites More sharing options...
dkd Posted April 12, 2014 Report Share Posted April 12, 2014 My primary care dr is not very knowledgable (haha) so she probably couldn't help me (she hasn't so far). I really need to find a new doctor. Thanks for the info everyone!! Quote Link to comment Share on other sites More sharing options...
cupcakemomma5 Posted April 14, 2014 Report Share Posted April 14, 2014 I am actually being sent to a genetics doctor, my gp just put in the refferal....kind of nervous... Quote Link to comment Share on other sites More sharing options...
Ctat333 Posted April 15, 2014 Author Report Share Posted April 15, 2014 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 ~ Quote Link to comment Share on other sites More sharing options...
Ctat333 Posted April 15, 2014 Author Report Share Posted April 15, 2014 Ok, I totally thought I lost my first post, took the time to write a second one, and now I see my original post lol. Sorry for the double post everyone :/. Brain is fried! Quote Link to comment Share on other sites More sharing options...
IceLizard Posted April 15, 2014 Report Share Posted April 15, 2014 Wow, very interesting research. I hope your appointment tomorrow goes well. Quote Link to comment Share on other sites More sharing options...
Ctat333 Posted April 16, 2014 Author Report Share Posted April 16, 2014 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 ~ Quote Link to comment Share on other sites More sharing options...
Recommended Posts
Join the conversation
You can post now and register later. If you have an account, sign in now to post with your account.