Hi PhoenixDown,
I hate that the doctor did not check for the other types of EDD or some other genetic disorder. Maybe you have types I/II or type IV. Can you order a 23ME test? You can get the test kit online. Maybe that can tell you more info about what genes you carry.
Maybe you have something different than EDS. What are your symptoms? …
Lab-Scientist-Lady – I think I can get the 23andME test but would it demonstrate I have a specific disease? Most reviews of 23andME talk about ethnicity, some mentioned things like the MTHFR gene but I’ve tried the supplements associated with correcting/helping this problem and have had no luck.
The specialist ruled out Classical, Vascular, Kyphoscoliosis, and the Hypermobility type based on clinical examination alone, again she was adamant. See another geneticist? It’s not as simple as that I’m afraid, between NHS failures, private practitioners demanding NHS referrals, and me being pretty ill I can’t simply visit a geneticist.
I’m by no means fixated on a diagnosis of EDS, I just want to know what’s wrong and to be able to have objective proof to show people, especially given that I’m house bound (bedroom bound mostly to cut a long story short), and my health is continuing to decline.
Can you tell us why YOU think you have EDS?
I don’t wish to publically list all my “EDS symptoms” but I’m happy to send a comprehensive email to you Dianna.
My questions are: Can I still have CCSVI, a Chiari malformation, or some non-EDS connective tissue disorder that presents a similar set of symptoms to EDS?
The next thing I was thinking about looking into is Mast Cell issues, as I have unusually strong allergic reactions to tiny amounts of dust/mould/unsure.