HelpPOTS Posted January 16, 2011 Report Share Posted January 16, 2011 So I've seen a geneticist who has diagnosed me with a connective tissue disoder. She was suspecting Ehlors-Danlos because of my cervical issue but i don't have hypermobility. She can't make a diagnosis because of that. How do I find out which type I have? Quote Link to comment Share on other sites More sharing options...
issie Posted January 16, 2011 Report Share Posted January 16, 2011 The hypermobility form of EDS is the only one that can't be tested with genitics. All the others can be tested by gentic testing - so you may be in luck. Did she do gentic testing? Quote Link to comment Share on other sites More sharing options...
HelpPOTS Posted January 17, 2011 Author Report Share Posted January 17, 2011 As far as genetic testing goes she asked for a family history and thoroughly examined my body. Would it be blood tests that she would order? How would she go about genetic testing without all the sequencing crap. Quote Link to comment Share on other sites More sharing options...
Chaos Posted January 17, 2011 Report Share Posted January 17, 2011 If I'm remembering correctly (which is a BIG "if") I think there is a type of EDS where people don't have much, if any, joint hypermobility. You might check out the EDS websites for that info. There are apparently genetic tests (some are blood tests and I think some are biopsies??) for all the types of EDS except for the hypermobile type. Also, I remember seeing somewhere that there are about 200 different types of different connective tissue disorders, most of which aren't identified yet. So, you may not get a "name" for it other than connective tissue disorder. Good luck! Quote Link to comment Share on other sites More sharing options...
Crow Posted January 17, 2011 Report Share Posted January 17, 2011 Dr Francomano in Baltimore is an expert on EDS and other genetic connective tissue diseases. She changed my first geneticist's diagnosis from type III to type II, and also told me about some Marfans overlaps no one ever noticed/told me about. Some geneticists will do a skin biopsy to diagnose EDS but as folks have mentioned, testing won't diagnose all forms of EDS. A lot of people have been diagnosed with EDS without a lab test. Quote Link to comment Share on other sites More sharing options...
Sarah4444 Posted January 18, 2011 Report Share Posted January 18, 2011 Dr. Francomano diagnosed me. She is a great doctor, and made it much easier for me to explain all this to the doctors where I live. Quote Link to comment Share on other sites More sharing options...
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