Basketcase

This is the third in a brief series of posts. Here are the first and second.

It is April.

It is at this point that I see my rheumatologist, and fill him in on the medical adventure I have been on. I have known my rheumatologist for 11 years, and we are neighbours. I used to work with his college roommate. We are close. So together we brainstorm some possibilities for what caused my odd injuries.

Are you very flexible? He asks suddenly.

Yes. I can do the splits all the way down. I can bend my thumbs all the way back, too. Do you want to see? I stand up, prepared to drop into a full split on his lineoleum floor in my paper gown.

 Yes, the thumbs. That’s part of the diagnostic criteria for something. Anything else?

I can bend my legs behind my head and turn myself into a fruit basket.

The last one I say in earnest – it does not occur to me how bizarre it sounds. He ignores the Fruit Basket Comment and suggests You may have a genetic connective tissue disorder – this could be why you keep getting injured so easily. Let’s refer you to a geneticist.

I go home to Google the diagnostic code on the invoice. I have spent my life with a variety of strange, seemingly unrelated ailments that would instead seem perfectly correlated with the diagnosis he has preliminarily given me.

I call the geneticist in the morning. He is booked for 18 months. I search NYC hospitals for another one. She has retired. Another  is booked for two years. I call the foundation dedicated to this disorder, and they tell me that their genetics centre has a waiting list of five years, but would I like to donate cash? At each of these hospitals, I am told that if I were pregnant, they would see me immediately, but since the testing is for me and not a foetus, no interventions can take place.

I do not know what interventions are, but this process seems Kafkaesque.

As a last resort, I consult Dr. Google again, who refers me to a genetics centre only loosely affiliated with a hospital in Boston. After some negotiation, they offer me an appointment two weeks later if I can send them my files ASAP.

The weather has turned sharply cold after a mild winter, and I am due in Boston on a rainy Thursday. On my way to Boston, I stop by Kat’s house to see her and the new baby. I wonder if I will ever have children; if I even want to have children. As I ponder this, Baby A spits out her paci and waves her tiny fists menacingly at me.

Kat wishes me Good luck as I leave. I wonder if I will need it.

There are still dirty piles of snow on the New England ground and the rain falls in sheets as my reliable Volkswagen cuts through the midmorning traffic. I arrive in Boston in good time, and the Doctor Will See Me Now. He is an older man; South African, with one of those lilting Afrikaaner accents that at once sounds Dutch, English, and vaguely Australian. He asks me a list of questions and throughout our chat, he rolls his eyes in a way where I cannot tell if he is impatient with me, or annoyed I have come.

He asks me at length about my family history and I am as prepared as I can be. I have checked birth and death records; I have grilled family members. I have pulled as many of my own files as possible.

Do you or does anyone in your family struggle to heal from surgery? the doctor asks me as the interview portion winds down.

My mother had a sister who died at six weeks old because the surgery to correct her oesophageal atresia failed completely. 

He looks up at me, sharply. Margaret’s condition itself was incredibly rare, and the genes involved might be associated with the syndrome my doctor thinks I have. The fact that her surgery did not “take” is one more important data point towards confirming my diagnosis, and by association, hers.

Finally, after over an hour, he slams his fist down on his cluttered desk.

How did your doctors miss this? This is a textbook case of Ehlers-Danlos Syndrome. 

He is irritated not with me, but with other people’s failures, it seems. I have taken on the yoke of those failures; been dismissed as a hypochondriac or presumed to be a pill-seeker. As it turns out, I am Textbook.

We proceed to a physical exam where he asks me to touch my thumb to my wrist and my hands to the floor while standing. I again blurt out the fruit basket thing, and he seems unfazed by it. Instead, he asks me what I do for a living.

 I’m a lawyer, I simplify.

I love lawyers, he tells me. He gestures to the photos on his walls, These are all lawyers. Famous lawyers. Do you recognise any of them?

I squint at the walls, which are covered with pictures of the doctor and friends, some of them with a distinctive 70s vibe.

That one is me and Justice Blackmun. Very important man. Great friend, especially to a geneticist.

He finishes his exam, takes my blood for genetic testing. He is certain I have EDS, but the genetic test is important to identify which of the subtypes I have. He tells me he will also test me for being a CF carrier and SMA in the event that I want children. He explains to me the risks of childbearing with my condition. He tells me that depending on which version of the bad collagen gene I have, I shouldn’t be dissuaded from having children, but that I should be selective.

It is not until I leave the office and I get into the car to drive home that it dawns on me that Justice Blackmun authored the opinion in Roe v. Wade. I finally realise what the doctor means by selective; intervention.

More importantly, I begin to realise that none of this is my fault. This isn’t happening because I am a shitty runner or because I ran too many races trying to work out some deep childhood pain. None of it is my mother’s fault, and none of it was her mother’s fault, either.

All of this angst; all of this complex grief; all of this damage was done by a simple quirk of DNA. I do not know whether to be angry or relieved. All those years of therapy suddenly seem like a huge, expensive waste.

1 Comment

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  1. I’m in shock at the diagnosis and how long you’ve lived with it being misdiagnosed. I hope you keep us informed as you gain knowledge as I’ve never heard of EDS.

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