This morning I’m again in pain and rather stiff. I know that many of you have rather specialised knowledge, and would appreciate your thoughts on getting diagnostics.
I have a number of conditions, both common and uncommon, including Raynaud’s, migraines, cough-variant asthma, tinnitus & hyperacussis and Auditory Processing Disorder, motor tics, and assorted neurological glitches including prosopagnosia (face-blindness) and ADHD. Getting these things diagnosed over the past decade has been wonderfully helpful for those that can be medicated, figuring out how to make accommodations for those that can’t, and being able to prove to others that I have documented reasons for difficulties, and that I’m not being lazy or stupid.
However, the crux of this post is that I also have hypermobility-related problems, including osteoarthritis, TMJ (temporomandibular joint disorder), prolapsed uterus, repeated shoulder subluxations, crackly joints, stretchy skin and places where my skin repeatedly cracks open, poor proprioception, bruising easily, and local anesthetic not lasting very long (which along with the TMJ makes dental work challenging).
You can see my pictures on this page. Several people have suggested that I have Ehlers-Danlos and/or Marfan’s because I have really long fingers and can hardly find women’s shirts that fit because of my long arms. (Funny thing is, I’m the shortest person in my family of origin at 5’5″; the rest are around the 6′ range, but similarly proportioned.) More discussion of the proprioceptive issues is here.
My problem is that because I have pursued getting so many diagnoses, I fear that my assorted docs may think I’m either a whiner or a hypochondriac (even though I was right in my suspicions).
I have a rheumatologist, who put me on the twice-daily Naproxen for the arthralgia and Nifedipine for the Raynaud’s. But it was my psychiatrist who thought put me on twice-daily Gabapentin for pain, which helps me sleep better at night (in addition to the 2″ thick foam mattress topper, and pillow for my knees). Managing pain is sometimes a major preoccupation. As I’ve said before, legitimising the reality of pain is difficult. If you complain, then you’re “just being whiny”. If you don’t mention it, then no one realises just how difficult your life is, and assume that you’re not functioning well because you’re lazy or stupid. Other people tend to view the episodes of being less obviously in pain, or episodes between migraines, as being evidence that the person affected has “recovered” (like they are supposed to) and that the issue is gone (and thus accommodations are no longer needed).
When visiting doctors, there’s a fine balance to strike between self-advocacy and being explicit enough for them to understand the magnitude of the problems, and how those problems interact and magnify each other, but also avoiding coming off as being a neurotic female or a prescription-seeking druggie.
I also had to ask my rheumy if I didn’t indeed have hypermobility, which after demonstrating a few “tricks”, she said that I do. She didn’t take a Beighton score, but then again, I performed all those anyway, so that may have been moot. At least she has the hypermobility charted.
So if I’m getting at least some of my symptoms treated, why would I want to explore further diagnoses of Ehlers-Danlos or Marfan’s?
Well, there are possibilities for other related health issues. But also, my daughter is pregnant, and although it’s my son (rather than my daughter) that has some of my neurological glitches and hypermobility, I’m concerned about genetic issues. Almost ALL of the health problems I have carry some genetic basis.
But you can imagine the kind of reception a person would get going in to a doctor and saying, “A bunch of strangers on the Internet say I have this weird, rare disease”! :-D
Like I said, I don’t want to be seen as some attention-seeking hypochondriac. But I had to ask my rheumy about the hypermobility, and she’s not gone beyond that, even when I managed to sprain my ankle merely walking across the flat sidewalk into her office. (Although she is otherwise thorough with x-rays to check for bone density & arthritis and blood tests to rule out autoimmune diseases.) My GP refers all of specific health issues to my assorted specialists (OB/GYN, psychiatrist, rheumatologist, etc.) so I know that he would not assess me.
Do you have any ideas on how to broach this, “I too, may be a zebra” question with my docs, or get a referral for a geneticist or whatever? (Mind you, I’m in the US, so must deal with the intransigencies of my insurance company.)
Thank you for your time and thoughts,