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.
From what I read the 23ME can tell you your carrier status and likely hood to develop some diseases. It is lacking many disease and conditions, but depending what all you have going on it might help. It works best for those of European descent . It may or may not be useful for you. I have not tried it yet. I believe you can have some of the EDS symptoms and have another disease.. There are several closely related connective tissue diseases. Do an Internet search of each of your symptoms and see where overlaps occur. There is always the possibility that what you have is unique to your family. Do you have family members that share your symptoms? There are reports of isolated types of EDS that are unique to single families. I am so sorry you are bedroom bound. I am having similar issues. I am finally accepting that I will never work again or do other things I love. I am just starting down the long road of filing for disability and all the financial hardships that creates. My medical problems are increasing as well is the cost. It is hard to keep going. Have you tried to read the Driscoll Theory? This is also a website for support and advice maybe it will help. http://www.EDSawareness.com. Can you log on to YouTube? Try searching for people with similar issues. Like search for Mast cell issues, connective tissue disorders, CCSVI, or Chairi One Malformation, etc….Sorry I am not much help. I am still new to all of this. Also, have you seen an Rheumatologist, cardiologist, internal medicine doctor, maybe an allergist, or an Endocrinologist? I am sorry I don’t no much about how it all works in the UK. I went to a rheumatologist to rule out an autoimmune disease. Have you had a MRI of your head and neck? Have they ruled out MS or Myasthenia gravis?