I was wondering where you get treatment if you have possible DYT1 dystonia. Two doctors have told me that my symptoms look more dystonic, in contrast to my previous diagnosis.

Upon hearing the word Dystonia, I started researching this possibility. My current symptoms and onset could possibly match with Oppenheim's Dystonia and some of the case studies he wrote about. I'm not trying to self diagnose, but I'm having trouble finding anyone to evaluate me.

I followed up with my neuro's office during the week after she mentioned Dystonia and she returned my phone calls a couple times, but I wasn't available either time. As we kept missing each other, I sent an email explaining my Russian Jewish heritage, and asked if she could perform DYT1 test to rule that out as a possible diagnosis (as 90% of Dystonia in the Ashkanazim community is caused by DYT1). Its now been nearly two months since I've heard from my doctor (with whom I had a 3 year relationship and was treating two neurological diseases).

Giving her the benefit of the doubt, she may be on sabbatical, but I've changed my line of questioning away from Dystonia to how I should taper the medications that she has me on (prednisone and cellcept) and I've heard nothing from her or her residents (nor have I been officially discharged from her care)--all of which I find extremely disconcerting.

I've called several movement clinics in my region and have been told they treat Dystonia, but upon asking whether they screen for DYT1, I've been told I need to find another clinic. My symptoms are continuing to worsen and I don't know if its a progression of some underlying disease process or the stress of this ongoing ordeal. My work situation is suffering as well, since I'm confined to a wheelchair and have severe blepharospasm. I do currently have an appointment, but the movement clinic is unaware of my background, so I don't know if they will actually treat me.

The doctors that I've found that either specialize in DYT1 or are willing to treat it are a minimum four hours drive from where I live (which is surprising since I live near two major cities, both with good hospitals). I called a geneticist associated with one of these clinics and he is currently running a DNA test for me. While I've learned not too take much for granted with my condition, if it is Dystonia, the odds are 9:10 that its DYT1. What do I do in this eventuality, as I can't drive 4+ hours for every doctors appointment, nor can I continue to work in my condition.

I honestly don't know what I'm hoping for him to find. DYT1 Dystonia is rare outside the Ashkanazim community, but a positive result would explain a lot and provide a possible diagnosis, as the current one is the closest the doctors could find, but never quite felt right. Yet no one local seems equipped to treat the condition. A negative test will leave me back at square one, but presumably with a more treatable disease (if they can positively dx it).

My GP's office currently wants to have me admitted and treated inpatient as they feel the situation has dragged on too long and outpatient treatment will only continue to make me worse while I wait for an appointment somewhere. I'm in agreement, am willing to go to an ER, but want to wait until my DYT1 test results are available, as I don't want to waste time going somewhere that won't treat it. My PA, on the other hand, would like me inpatient at a university center ASAP as she my symptoms are interfering with work/quality of life (my only reason for waiting at this point is a relative who works in the health care industry said the law doesn't require them to treat you, it requires them to determine if they CAN treat you).

Does anyone here have DYT1 Dystonia, and am I calling the wrong places for an evaluation, or is it really that difficult to evaluate and treat? My condition seems to be spiraling and placing my job at risk, which is why I'm in agreement with inpatient treatment, but I don't want to go to a hospital that can't treat me. Should I go to the ER of one of the local universities or should I wait for the test results and go to one of the places researching DYT1?

Thanks. I'm getting really frustrated at the whole situation.

btw, I don't mean to imply that any of the places I tried to get an appointment with are antisemitic, if it came across that way. I'm just surprised that major universities wouldn't be willing to evaluate me for a possible disease (albeit rare outside the Jewish community), and then treat me if appropriate or setup a referral if necessary.

Everyone tells me not to play doctor, to let the experts do their work, but my current (former?) neuro is MIA and none of the ones I've contacted, outside of NY and FL, will even see me.

I do have a local appointment setup, but they don't know DYT1 is a possibility and I'm not sure whether to tell them before the appointment/ER visit.

In case anyone is wondering, I did find a center in my area that will treat the DYT1 Dystonia; so it looks like I'll be able to stay close to home. Its not one of the places that does a lot of DYT1 research, but as long as the doctors are good and up date on treatment methods, I'll be happy.