Genetics and Inheritance

A couple of weeks ago I saw my new rheumatologist who invariably asked, "Does anyone in your family have... ?" and I once again said, "I was adopted…" and trailed off as she raised an eyebrow and jotted that down.

I looked down at my hands... at my now twisted and deformed fingers... and wondered how many female ancestors of mine suffered from the same disease.

I'm scared now. I wasn't before. As long as my x-rays indicated OA, no matter how awful I felt, I thought it probably wouldn't get much worse. But now the x-rays are telling a different story. Now it seems that, to quote my doctor, "mistakes were made in the past" regarding my diagnosis - and that what's happening to me, while not fatal, is not good. It seems that my immune system has gone awry. My body has turned on itself and the results are that my joints are being destroyed - and at a rather rapid clip. Apparently it started a long time ago in the smallest joints (toes and fingers) and has now progressed to the larger joints... pretty much all of them, from shoulders to ankles. It is very painful… and chronic pain is very debilitating in many ways.

Whatever this is, though - this insidious, destructive and as yet unlabeled form of erosive arthritis - it is hereditary. I inherited it from my mother and she from her mother and so on and so forth. Of course... my mother didn't live long enough to get it... and I don't have any pictures of my grandmother which show her hands - and she died when she was 55, so maybe it hadn't hit her full-force yet. But it occurs to me now that it would have been really nice to have known about this over twenty years ago when the first little symptoms appeared. Nothing much... a pop in my knee when going up stairs... a bout or two of "frozen shoulder"... but had I known about a genetic disease lurking in my family tree and that my risk of getting it was high, I would have insisted on diagnostic tests then, at the first knee pop, and I certainly wouldn't have allowed my doctors of the more recent past to have blown me off as they did.

I "play" the piano on a pillow now since I can't actually touch the keys without incredible pain. It hurts like hell to type but I do it anyway because - well, just because. I can't type very well anymore - I make a lot of mistakes and am slow as molasses - but (unfortunately, I have time) and that's what Spell Check is for. (I love Spell Check!) Some days it's hard to walk and some days I can barely get out of bed... and some days I go back to bed and cry from pain and exhaustion.

I'm now adjusting to very aggressive drugs that have terrifying side effects, but that can halt or at least delay further damage and that will hopefully diminish the physical pain. I wonder with great concern if I'll ever be able to work again. An artist with fingers so badly damaged that a fist can't be made anymore with either hand? Hmmmm… it seems unlikely - but then, on the other hand (no pun intended), Beethoven composed some of his greatest works after he became deaf... but I am hardly in the same league.

So far, my half-sister has been spared. Her daughter, my niece, is at risk, too... as are any daughters that she may have. But at least we know now. Knowledge is power... and the next generations are now empowered.

My point? My point is... closed adoption and closed records suck. No adoptee should ever be denied her or his own genetic history, medical or otherwise - ever.