Monday, May 7, 2012

Breakthrough/Diagnosis: Phocomelia

Up The PhocomeliaI'm sitting in the exam room, wheezing and feverish. I'm at a walk-in clinic, MedExpress. 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 abnormaility and problems with the reproductive organs, he's pretty sure it's phocomelia. I gape at him, and ask him is he 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 GPs 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 sydrome can cause. Everything- my arm, my scoliosis, my doubled reproductive organs, my extra kidney, my asthma, even my bluish eye whites and tiny cataracts. All phocomelia: Greek for seal arm. I learn by link surfing that amelia can mean absence of a limb. Amelia, I think, sounds much prettier. Broader category though, and I'm reveling in the exactness of the descriptions of phocomelia.

I am dazzled. 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, have a little one with strange limbs, curved spine, 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. One says a dozen or so a 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.

There is 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 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, it's fascinating. I'm so grateful I don't have quite the right words. I'm so happy to have this information, this key. The shift in my self-image was never anticipated. I feel stronger in mind and soul and a greater body-peace. 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.

Graffiti Image by Diodoro on Flickr

{Edit: I want to offer enthusiastic thanks to Monica Orosz at The Daily Mail here in Charleston, WV for sharing my story with her readers, and for being an absolute treasure to the arts and humanities in our community. Thanks to the Associated Press for picking up the story and blowing my mind. Huge props to Band Back Together for republishing this post and for making a remarkable community for Spoonies of all kinds. Thanks to friends, neighbors, and my pharmacist for clipping the article and offering me compliments that should go to Monica. Also, I really wish I'd done my hair and makeup for the photo shoot.}


  1. Heidi.....I am speechless. How could this go undiagnosed all these years? It is so specific, so clear when you put it online. I am shocked it was "un-Googleable." Shocked!

    Goddess bless you. This is good news. Diagnosis is a gift.

  2. Actually, you are a gift. I love this photo of you!

  3. Wow.

    Just wow.

    I think '8p21.1' needs to be your next tattoo. . . .

    - Kerri

    1. Kerri, You're in my BRAIN! I've already called around to price it. Need to be not poor for a while but hell yes, that is the plan:)

  4. Wow. All this time, no one gave you a straight answer? Wow.

    1. It seems to be the case that it's a rare enough diagnosis that no one was aware of it. I just finally bumped into the doctor who put the pieces together. And I'm so very thrilled that I did:)

  5. :hugs: Not sure how I missed this post...but so, so happy that you might probably have an answer!!! Love!!

  6. I knew you and your when you were a very little girl. You played with my daughter Michelle. She was a little girl with curly blond hair. Brooke introduced your mom and me. We moved away not long after that but both my kids live around Charleston. Michelle Lutz Willey and Greg Lutz. I so enjoy reading your stuff. I know the above news is last year but for me it is not. I know that being diagnosed can be such a great happening in life. Did you get that '8p21.1' tat?
    Keep spreading the love and "Keep the Faith"!!!!!

  7. Hello Heidi! I came across phocomelia in my review book for the national board exam for occupational therapy. It is a shock that you were undiagnosed for all this time! I would just like to let you know that reading your post helped me better understand phocomelia from a personal perspective, thank you! I am glad to hear that you found what you were missing all this time!

    1. I'm delighted to read this. I'm so glad it helped you in your studies. This means the world to me. I'm hoping to write more about my experiences in the very near future. Thank you for the kind words.