Definitely nothing happens fast with diagnosing difficult cases. I've been trying for over 20 years, and finally, just very recently in fact, have decided to just treat symptoms as they come about.
Breathing was an issue--got a bipap and O2
Walking was an issue--got a scooter and PWC when canes became useless and manual wheelchair not usable due to arm weakness
Hands are useless so I use a computer a lot with a touchpad
See what I mean? I've just learned to adapt and function with what I have. My disability was approved very quickly--and to this day, I don't really know the final diagnosing criteria to get it approved. i was in a nursing home (assisted living) was unable to walk and wearing diapers. No one knew then or knows now what is really "wrong" with me.
It's only been in the last year that things have progressed to the point that my tests are abnormal in many areas. My signs are almost all UMN--clonus, spasticity, babinski positive, etc--and still no official diagnosis of anything other than fibromyalgia.
As for my syncopal episodes, they were found to be caused by both mitral valve prolapse and atrial fibrillation. I used to pass out weekly before they found the atrial fibrillation. Til that point, it was all in my head according to the docs--as by the time they got me on a monitor, the heart rhythm had corrected itself. It was only when I passed out on a treadmill that they saw the a-fib I'd spent years being told was all in my head that they treated the problem and gave me meds to prevent it (and the subsequent blood clots caused by the afib)
My point with this novella is not to be obsessed with answers--they could well be a long time coming. I'm definitely not in good physical shape and doubt I ever will be again--but if I dwell on it, I'd end up so depressed I'd check myself out.
I hope you are able to learn to just function the best you can with what you have.
Aly--let us know how your genetic testing turns out.