Did you have symptoms as a child?

When I look back, I had mild dysautonomia, heat intolerance, joints that would crack out and back in, but was pretty much a normal kid and it probably all could have fallen under an anemia diagnosis since I was anemic. Later in my early twenties, my SI joints would go in and out and cause some problems here and there and I became hypoglycemic, but controlled it with protein every 2.5 hrs and was fine, Thirties I felt better than I ever did, knew how to take care of my idiosyncrasies and had 3 kids by then. Two of my three had some of my "sensitivities", but the other had none. I can tell you that never in in my childhood or whole life until I got sfn, did I or my kids have nerve pain, crawling, numbness, or tingling. So I am having a very hard time accepting that a mutation is the answer to this. Obviously we were genetically predisposed to what ever happened, but life was pretty normal before this. Maybe I'm just in denial.

Hi Healthgirl - No i never had problems as a child. We were always quite well. Our situation was similar to yours, we all got symptoms about the same time. I mean, within weeks of each other. I asked the prof. and he shrugged his shoulders and didn't think it was connected. Healthgirl, do they they think you have EDS?

Yes, that was the conclusion reached by my new young neurologist. She had all the assorted files on my case and had two children (med students) ask questions about the me and the kids, as did the genetics department who had no solid answer as to why we could all be affected so severely in the same time frame. There answer was "something heritable/connective tissue realm/ nervous system and then sent me to rheumatology. Rheumatology sends me to neurology. They send me back and fourth to each other. They all scratch their heads and say it must be autoimmune on top of EDS, but no one wants to keep trying to figure this mess out or try treatments.

Frustrating, isn't it? With my latest dive into the biotinidase thing, this pediatrician in Detroit who spoke with me even seemed thoroughly disgusted that my internist didn't event ATTEMPT to learn anything to help me interpret my results. You'd think just out of curiosity, if not out of a sense of duty to her patient, she might have at least tried. Nada.

I've debated trying to get in to see a metabolic specialist at Hopkins, but I'm so disgusted with mainstream medicine right now that I could scream.

Hi janieg & Healthgirl

Just to add something, which may be slightly irrelevant, to your EDS discussion, (Ehlers-Danlos Syndrome). I recently watched an episode of the TV series "Code Black" where a young woman was diagnosed with EDS in the ER - by chance - supposedly difficult to diagnose.

Unfortunately I've deleted it already from my recorder but I'm fairly sure it was Series 2 episode 10 - you may be able to find it online. Given that it's a TV show with heaps of 'artistic license' there may not be too much useful info in there for you.

All the best for finding something that helps you to manage the condition.