cardiactec Posted March 6, 2007 Report Share Posted March 6, 2007 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! Quote Link to comment Share on other sites More sharing options...
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