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I Saw The Genetic Doc In Boston Today....


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quickly i'll just say that the appt went well today. i dont have marfan based on clinical criteria. i DO have EDS, either type I or type II. the doc was shocked at how loosey goosey i was and actually was so shocked on her physical assessment of me that she asked about 10 times if i was sure i'd never dislocated any joints or broken any bones -- she EVEN went so far to ask if i had ever broken my neck cuz she said i was last LOOSE! crazy. BUT on the plus side, she said i didnt have the serious kind of EDS, vascluar, from what she could assess. she said she is almost 100% positive i have type I or type II but is having me go for the skin punch?? (i think that's what it is referred to as) biopsy.......

oh yeah, as for mitochondrial disease, cuz i was also there to be assessed for that, she said that it is way too overly diagnosed and didnt want to look into that for a possibility with me for two reasons, one because she said it's just too overly diagnosed and two because i dont have a lot of the features of the disease (no muscle wasting/weakness, no family hx of it, etc)............

she is extremely interested into the connection of EDS/laxity and blood pooling with upright position. she said there is a lot of research going on right now with EDS/collagen defects and POTS patients and actually went so far to email a genetic doc out in washington, while i was still sitting right there in her office. i guess this doc in washington is doing a lot of research with POTS and EDS and thought my case would be interesting to him.....so we'll see what he has to say about that.....

anyway, just thought i'd fill you in on the appt today!

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Are you sure the doc your geneticist contacted is a he? One of the genetic docs big in EDS research is she, Dr. Nazli McDonnell, who works for the NIH.

Nina

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I'd be interested to hear of any EDS / POTS research going on. I have often wondered if POTS might be related to a conective tissue problem preventing constriction of the blood vessels. Particularly given how many people on here seem to have been diagnosed with POTS and a discussion about "road maps" of veins accross out bodies on another thread recently!

Flop

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I think the guy in Washington (state) must be Dr. Byers-- he does most of the biopsies. Dr. McDonnell is in Baltimore, I think.

It's great that you have some more understanding of what's causing your symptoms-- though I'm sorry it's eds. Good though that your joints are quiet.

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YES, mkoven, dr.byers is the doc in washington state. that's who i will be sending out my biopsy to....and that's who my doc contacted today via email.

i only have minimal pain with my joints, not too bad. the doc said that there is major research going on to definitively prove connective tissue disease with blood pooling in the pots patient. i have thought for a long time that pots wasnt necessarily a complete neurological problem, but more or less something like this, connective tissue -- at least with me personally...

amby, it was a little bit of a shock but considering i am extremely hypermobile, have had terrible times when growing up with terribly unusual, way out of "normal" type growing pains (like to the point of violently shaking on my parents bed), knees that seem to "slip" a lot (not dislocate though), and a lot of crack, snap, and pops of my ankles and shoulders, it isnt a complete shock to me. i actually thought i had marfan more than eds but there is such an overlap in clinical criteria with the two, so......glad it's not marfan though, that's pretty serious.....and i'm glad i dont have vascular EDS, another serious condition........i'm lucky to have the milder form of EDS.

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After seeing so many EDS diagnoses on here I went searching for EDS information. I am now wondering if I have EDS too (though not sure which type) - I daredn't mention it to my doc though, he already thinks that I am a total hypochondriac!

Flop

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lol, flop, mention it to your doc! who cares what they think about you (a hypochondriac). this is to benefit you, help you understand what is going on with your body/health, ya know? dont be scared to ask.

p.s. did you get my ekg's via email? lol.

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I personally find it helpful to know that there's an underlying connection that explains all my weird symptoms--otherwise I was beginning to feel a little nuts.

Dr. McDonell is finding connections between pots, eds, weird allergic sensitivities--it's nice to have a little validation that it's all of a piece.

I'm less loose than many, but I also remember having really bad leg pain when I was little that would keep me up at night-- my parents chalked it up to "growing pains." But my joints only started being a problem slowly in my late 20s, and then suddenly and intensely in my late 30s. I'm 40 now.

Had I known, I might have dome some things differently. I used to carry ridiculously heavy loads which I"m sure did not help my now very sloppy back.

So maybe you can avoid some of the joint stuff with this bit of knowledge?

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