Hello,
So EDS is a collagen disorder. The connective tissue is missing a link somewhere so its kind of incomplete. The joints are unstable which causes terrible strain and over work of the muscles and weak ligaments and those are both compromised as well. The joints can be hyper flexible, skin is soft. Dysautonomia is common with it (temp regulation, digestion, absorption, respiration, heart, basically everything your body is supposed to do automatically is haywire and random when it should work in sync with out a thought). I knew we had some sort of a genetic connective tissue disorder for a while, but I was still in denial until all of the evidence put together from this journey doesn't lie. I wish it could turn out to be a lie. Things could always be worse though and I'm thankful for each day. My children do well in school and have nice lives. We are everything we need and will stay positive for improvement from the neuropathy for me and for it not to progress in the kids.

You are an inspiration Healthgirl and you motivate me to keep pushing. It has been just about 3 years for me since the SFN started and I too am still idiopathic. I have seen the neuromuscular neurologist and the rheumatologist and just starting with the geneticist (only because I shared my father's history not because the question(s) were asked). I don't expect to find a cure but I would very much like to understand what the heck happened to set this horrible disease off. The list of meds you shared is dead on and how sad is that. It seems the doctors go to a "procedure manual" and follow instructions. We have to rely on the researchers who have a genuine interest in figuring out how things work. I applaud your persistence and your enthusiasm for life regardless of what it deals you. Your family is lucky to have you!

Thanks, and I am lucky to have access to medical literature and the ability to research to have been able to put some of the puzzle together. Before the internet it wouldn't have been possible. These groups are amazing. How frightening would this all be with out anyone anywhere to really understand?

Did your father have symptoms at the age you were when yours started?

Hi Healthgirl,
I’m glad that you finally got some answers and I’m sorry that you still can’t get a proper treatment.
I’m also very frustrated (to say the least) with the dysfunctional medical system, had to figure out my diagnosis by myself and struggled for many years to find doctors who will take me seriously and help me to get a treatment.
It is a huge relief to finally have some doctors that I can consult with, and treatments that help.
I’m doing as much as I can to help others with somewhat similar conditions in local support groups and to educate the doctors around me.
If you have autoimmune manifestation, are IVIG, Rituximab and other immunological treatments might be relevant?

Healthgirl:
Having never heard of Collagen Disease, I looked it up and was surprised to find that the Fuch's Corneal Dystrophy that I have is also in the collagen disease category. It is an inherited condition that affects my vision and would ultimately cause blindness, but fortunately it is curable with partial cornea transplantation. I guess I'm also in a "wait and see" category (pun intended), with the doctors checking me annually to determine when I will need to have the surgery.

(I realize none of this has anything to do with your condition - just wanted to thank you for raising my awareness and helping me learn a bit more about one of my own conditions.)