March 1 was the big day, the culmination of years of dithering and debate. I woke up early, grabbed a cup of coffee, muttered the standard protests, and proceeded to a prestigious and historic hospital widely perceived to be one of the best in the world.
The doctor performed a perfunctory examination, looking at my palms and knuckles, measuring my head, scribbling notes on paper. Then she folded her hands together, looked mournful, and intoned the results of a DNA test performed to confirm the genetic disorder I was diagnosed with in 1983:
I stared at the doctor. She stared at me. There was a long pause, then she said "This is quite a mystery."
I raised my eyebrows, thinking, no fucking kidding mate.
The doctors in Cambridge were so exquisitely sure the result would be positive they refused to run the test. The doctors in London only agreed because I hassled them and because testing for symptoms routinely and in perpetuity seems a little, well, wasteful. Not to mention the fact that the tests themselves are harmful to healthy people.
"Of course," the doctor continued, "you are still diagnosed. . . symptomatically."
Yeah, well, whatever. This is, at best, sleight of hand. If DNA sequencing cannot confirm I have the mutation known to be the cause of the disorder, we actually know less now than we did last week.
Why? Because I only meet two criteria of the autosomal dominant genetic disorder they tested for. Critically, the diagnosis stamped in my chart does not explain a myriad of other symptoms. It might be the cause of my skin cancer, but it is not the cause of my primary cancer.
From the perspective of specialists in various fields, it is categorically impossible to have the specific type of cancer I was diagnosed with at age twelve, unless it can be attributed to radiation exposure - and that is something my childhood doctors insist did not happen. The only other viable explanation is a different autosomal dominant genetic disorder. And hey presto! I have three of the criteria for that one!
But if I'm diagnosed with a single autosomal dominant genetic disorder, the experts say I cannot have two, because it is "statistically improbable."
And now the genetic tests say I do not have the genetic disorder I remain diagnosed with.
What are the odds of that?
One possible answer to the conundrum is that I have "something else that nobody has a name for yet." That at least is more rational than "we don't want to think about it."
I am so tired of this I am barely able to sit through the appointments, but I go back, year after dreadful year.
Why? Because until we find a definitive narrative, I will be forever cursed not just with ambiguity but also with extensive, invasive, exploratory tests. Just in case.
The logical and appropriate choice would be for the doctors to order a test for the only other known disorder that can cause the primary cancer.
Like the kids say, DUH.
The doctors have steadfastly refused to run the second test because, you know, because. They have a hunch? Inkling, suspicion, belief?
I stared at the doctor. She stared at me.
She turned around and ordered the new test.