photchkiss Posted April 27, 2006 Report Share Posted April 27, 2006 Hello everyone:I joined DINET less than 2 weeks ago. Your support and feedback have been greatly appreciated. Looking at your signatures on posts, and seeing the clustering of commonly shared disorders may have gotten me closer to a diagnosis.Before DINET, I hadn't heard of EDS. Despite the fact that joint hypermobility, instability etc. have been plaguing me for years, I didn't know the cause. Like many of you, I've been on a multi-year journey from one doctor to the next. I've been tested for ALS, MS, YOPD, Wilson's Disease, etc. etc. Once I realized that I had POTS, it lead me to all of you. And once I began to listen to your stories, and read your signatures, it lead me to EDS. I'm a 37 year old guy. I'm an accomplished professional. But for the past several years, I've felt as though I was swimming up stream. And in the past year, my health began to rapidly deteriorate.Once I learned I had POTS--I went into life changing action mode. Treating the OI, has allowed me to go from functionality of a 3 on a scale of 1-10 to functionality of a 6 or 7. I have an appointment scheduled with a rheumatologist in 2 weeks to check me for EDS. In the past, I had many symptoms of Wilson's Disease, a very rare, genetic copper storage disease. I requested that my neurologist check for this, and when the lab tests came back for a protein called ceruloplasmin (Cp) and for copper serum levels both were low. My Cp level was 16 mg/dl--the normal range is 20-45 or so, with most people having Cp in the mid-thirities. My serum copper levels were also low. Through subsequent testing, Wilson's was ruled out--definitively. But now, ceruloplasmin and copper have come back on the radar in the world of EDS.As I dug into the various types of EDS, I noticed that some sites suggest that running Cp and copper serum tests are common in the test battery. Apparently type IX, otherwise known as Occiptal-Horn Syndrome, a milder variant of the child killing Menke's disease, is a type of EDS marked by low Cp and low serum copper levels. I checked my lab values (tested on 3 different occassions), and they are exactly within the range associated with EDS type IX, or OHS.My sense is I don't have this, since it is sometimes associated with mild cognitive deficits and even mild mental retardation, but the literature does say that intelligence can be normal. What scared me yesterday was a theme that emerged, that people with Occipital-Horn Syndrome usually live to mid-life.Do any of you have experience with EDS type IX or know of someone who learned that they had this at a similar stage in life to myself? --is it possible for a person with my background, at my age, to have something like this? And do you think that I'm doing the right thing going to a rhematologist (formerly she was with Mayo and now in private practice) as a next step?As I learn about EDS, I'm connecting the dots back to my childhood. I'm quite certain I have some type of EDS, but my intuition also tells me that something more is going on that has autonomic and neurologic dimensions. Your persepecitves, suggested links, or any other insights you can share are most appreciated.Thanks,Joe Quote Link to comment Share on other sites More sharing options...
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