While my eyes are still healing, I thought I’d mention a somewhat rare syndrome that I will be seeing a geneticist about. It’s called Ehlers-Danlos syndrome (EDS) and it’s an inherited connective tissue disorder that can be associated with keratoconus. There are many types of EDS and if I do have it, I would have one of the milder forms.
Now, that doesn’t mean everyone needs to see a geneticist for this disorder or any of the other connective tissue disorders associated with keratoconus, but I have so many of its symptoms that when I mentioned it to my ophthalmologist, he suggested I see a geneticist to rule it out. Of course, thanks to insurance hang-ups and whatnot, I’m still waiting on this.
I’ve mentioned that I have severe fibromyalgia* (see update), but some doctors tell me something else is going on as I have hypermobile joints which are symptomatic, chronic myofascial pain from muscle spasm, very easy and spontaneous bruising, leaky heart valves which cause a murmur, GI issues, strange allergies, chronic tendon problems, and on and on. EDS may explain some of these problems, as well as why I got keratoconus.
One of my grandfathers had many EDS symptoms, especially the hybermobile joints and joint pain which was worse than mine, so I’m curious to see what the appointment reveals. There is no real cure (what’s new?), but I’d like an answer as to why I have such severe or atypical fibromyalgia and maybe this will explain a few things. I learned about EDS doing research online after my keratoconus diagnosis this summer—food for thought for anyone with a similar medical history.
*Update: I was diagnosed with Ehlers-Danlos syndrome (EDS), classical type (type II) by a geneticist in November, 2012. It is sometimes misdiagnosed as fibromyalgia.