I'm sitting in the exam room of a walk-in clinic, wheezing and feverish. The doctor walks in. He's young, lovely, and has a thick African accent.
He asks me, "Phocomelia?" and I reply, intelligently, "Huh?"
He tells me that he's looked at my chart; with a limb abnormality and problems with the reproductive organs, he's pretty sure it's phocomelia. I gape at him, and ask him if he's sure and what is that? He pulls out his iPhone and together we google the syndrome. I learn that I seem to have a genetic mutation with a name, with an actual chromosomal location:
There's a NUMBER. Science!
No more baffled general practitioners musing, "Well, these things happen."
No more chiropractors telling me the 'good Lord made me special.' Really? I mean, yeah, clearly the Goddess had unique in mind when she was all electric synergistic quantum something in between the atoms that used to be a star and a cow turd and a butterfly and then me. But with the SCIENCE! I have a real, actual, highly probable diagnosis.
I read over the cluster of birth defects this syndrome can cause - everything: my arm, my scoliosis, my doubled reproductive organs, my extra kidney, my asthma, even my bluish eye whites and tiny cataracts. They are all phocomelia, Greek for 'seal arm.'
I learned by link surfing that amelia can mean absence of a limb. Amelia, I think, sounds much prettier. It's a broader category, though, and I'm reveling in the exactness of the descriptions of phocomelia.
I am dazzled.
I'm grinning like King of the Lab while they fill me with antibiotics and steroids because I'm dying of bronchitis...but I don't care at all! Tear-filled, I thank the gorgeous, brilliant doctor. I explain my parents questions falling flat in 1976, and my insistence to everyone who would listen that all these anomalies were linked.
Occam's Razor, I'd spit my mantra at them. OCCAMSmotherfuckingRAZOR. I've scoured the web for limb deformities and reproductive organs. Nothing. Arm birth defect vagina septum? Nothing. Scoliosis congenital amputation double uterus extra goddamn kidney SOMETHING??? Nothing.
So: joy. I have a reason. Well, a cause. An answer. An answer that each year, maybe 12 mamas in the world who've taken no drugs during their pregnancy give birth to a little one with strange limbs, a curved spine, and extra digestive and/or reproductive organs.
Because of a rare, recessive little blip at 8p21.1. (One study says 150 cases ever have been confirmed. Another says a dozen or so per year.) Most of the babies have much more severe symptoms than I have. Most have mental impairment. Most have a pair of limbs or all four affected.
I find a very upsetting photograph of a fetus, apparently miscarried...I stop my image search, click backward, find a nonsensical piece of graffiti, grab the code to link it at Flickr. Ignore the small, red fetus.
The drug thalidomide causes a copycat thing to happen, and Accutane can cause similar stuff, as well. Many doctors call the genetic thing "Pseudo-Thalidomide Syndrome," as the drug-induced symptoms are so much more common than the genetic.
My perspective does a dizzying 180: I have not lost the "genetic lottery." I am actually the luckiest person with phocomelia ever. It hurts a little to walk today, but I can walk. My IQ is high enough to be geeking out over genes and marveling at statistics. My face is pretty, unaffected. My spine - I get tears looking at the spines of these genetic lottery sisters - the spine that gets me so whiny/bitchy is so much better than it could be. My left hand skips over the keyboard, and the little twinges of arthritis or carpal tunnel syndrome are a wonder. This hand, shaped exactly like my mother's, and sized exactly the same, is my focus.
It feels like a treasure and waves of gratitude to the Universe/God/Goddess/Random Chance pour from me.
I message my dad and tell him this news. He's as thrown and thrilled and satisfied as I am. After talking about this with Shane and my in-laws and a couple of friends, Dad seems to get it the most. It makes me feel closer to him. It makes me miss Mom like crazy.
I spend a few days reading, incessantly reciting statistics and medical trivia at Shane. During a reading binge, I discover artist and writer Alison Lapper and I cry. She's gorgeous and amazing and a thousand kinds of strong. I'm working on a post about her now. She has much more prominent abnormalities. She is without arms at all, and her legs are truncated. Reading of her, I am awed.
I am so lucky - privileged, able-bodied. It's relative, and it's fascinating. I'm so grateful that I don't have quite the right words. I'm so happy to have this information, this key.
This shift in my self-image was never anticipated. I feel stronger in mind and soul and a greater peace with my body. The diagnosis itself isn't as important as just the having of one. I feel I know myself more deeply now that I can name this state of being.
It's about that, I suppose; it's about having the words to frame it. That was the hunt: for precedent and a concise term. It's how I learn and understand. My words, my body, my self-awareness is more complete now.
I'm the "strange beautiful daughter" from my Ganesha tattoo. I'm a grateful, gorgeous, graceful child of chance, changes and a life turning from one point.
8p21.1 and I spin out around it, all my knowledge and choices, steps and thoughts and art shaped by this unique variation.11 Comments