I lucked out with my diagnosis.

Sure, a diagnosis of Ehlers-Danlos Syndrome isn’t particularly lucky, as it’s a chronic, progressive physical impairment marked by joint pain, dislocations, muscle spasms and neuropathy, and everything from swallowing difficulties to bladder problems. It also is often saddled with dysautonomia, which is modern doctor-speak for what used to be called “hysteria”; essentially, the autonomic system goes haywire. It can affect lots of other bodily systems that one might been thankful that their particular presentation of EDS had skipped over, resulting in low blood pressure, rapid or slow heart beat, dizziness, excessive thirst, and anxiety. Fun times, I know. (And I do know.)

No, having those rare diagnoses isn’t lucky. However, I came by them relatively easily, which is rather fortunate.

I have friends who have gone out of the country in order to be diagnosed and treated for their EDS and related ailments. I also have some friends who are currently fighting for the opportunities to be able to do so, since our Canadian health care system is great for many things, but treatment and funding for under-diagnosed rare genetic diseases are not some of them. I also have friends who came to their diagnoses after dealing with a hell of a lot more pain than I can even imagine, and I wish that their paths to diagnosis could have been easier for their bodies and their spirits.

I presented information on EDS to my General Practitioner. He, being a rather smart and compassionate obstetrician/gynecologist and family physician, understood that this was far beyond his knowledge base, so he offered to send me to a rheumatologist of my choosing. I chose one in the university town I was living in, despite knowing that my town needs at least another three family physicians, and that it certainly isn’t a hotspot for specialists either. I impatiently waited six months for the appointment. I went to the appointment, said very little;

“I’ve been experiencing joint and muscle pain that keeps me awake every night.”

“Yes, my brother is also known to be flexible. We call him Gumby.”

“Why yes, my mother does have arthritis. Yes, she did just have an MVP repaired. How did you guess?”

“Why yes, sleep apnea and swallowing difficulties do run in our family.”

And then was told that I have Ehlers-Danlos Syndrome, and probably dysautonomia as well. The rheumatologist was very nice and tried to answer my questions. She suggested I attend the conference in Baltimore next fall, and, if funds allow, consider a pilgrimage, of sorts, to the United Kingdom, where there are lots of doctors who specialize in EDS. She said that I need to have genetic testing done before I consider having children. It will determine which type of EDS I have – mostly, though, it’s to rule out the super scary vascular type in which organs can rupture and awful things can suddenly threaten one’s life. I also need to have my heart monitored regularly to see if I have a mitral valve prolapse or blood  pressure problems. She ordered xrays of my neck, as she was curious about the lack of mobility in my shoulders and neck. Sure, it’s probably from my hypermobile shoulder blades jabbing into muscles and tendons in places where they shouldn’t, but I might also be missing a vertebrae or something, and it’ll be good to know. Just in case.  Or something.

So, all-in-all, a relatively easy road to a diagnosis that is more of a relief than anything else.

I hope all those of you out there that are searching for a diagnosis have a simple time of it as well. 

Good luck!