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The geneticist who ordered Connor’s genetic testing lowers himself onto a stool. Two medical students stand behind him; one, a boy, not much more than twenty-one years old with a neck full of acne, and a young woman, maybe five years older, with brown hair and big doe eyes. My gaze flickers to Mark and I wonder what he thinks of the girl. Such an inappropriate thought in the moment.
Connor is kneeling in front of a small chalkboard in the corner of the office, meant to keep kids busy while the doctors deliver test results.
The doctor scratches his chin which is covered in a thick, gray beard. “The good news is that we have found the cause of your son’s developmental delays and cognitive impairment.”
The good news.
“Connor has a rare genetic mutation of unknown clinical significance—this simply means a DNA change that is not fully understood.”
Uh. What?
He hands Mark and me a stack of papers, each held together by a massive paper clip.
The top reads Genetic Testing Report. A dozen words jump off the page at me: Gene, Mode of Inheritance, Variant, Coding, Zygosity, Classification. Numbers and letters—so many random letters. I don’t understand a single thing. It might as well be in Arabic.
The doctor rolls his chair closer to us and points at the paper. He smells like Old Spice.
“This is the specific gene that is mutated, and this is the spelling change. You can see here, where there is supposed to be a “T”, there is a “C.”
I pretend to understand as he goes on to explain the rest of the columns. All I’m thinking is: what does this mean?
“There are only seven known mutations like this in the world,” he says. “I spoke with a colleague in Texas who treated a patient with the same mutation, and have been in contact with a few other doctors with similar patients as well. Basically, what we have ascertained with the small pool that we’ve got to work with is that children with this mutation seem to have developmental delays and cognitive impairment that affect their daily lives, especially in school.”
No shit.
“Where did he get it?” Mark asks. (I’m almost as jarred by the fact that he spoke as I am of these bogus test results.)
“Some mutations can be passed down genetically, but considering neither of you seem to have the issues that Connor does, I think it’s safe to assume this is not the cause. In this case, it’s called de novo—you can see that right here on the test results. If not passed down from parents, genetic mutations are, quite frankly, freak accidents of nature.”
“They happen the moment the sperm meets the egg,” the young woman pipes up from the back.
I have a strong urge to slap her across the face.
“Does it go away?” Mark asks.
“At this current time, there is no cure for genetic mutations—that’s the bad news. But my colleague said his patient showed drastic improvement in symptoms with prolonged therapy.”
“Hang on,” I hold up my hand. “So Conner will have to deal with this for life?”
“Most likely. Yes, ma’am.”
My jaw drops. My gaze shifts to my son, who is drawing random shapes on the chalk board, completely oblivious to the life-altering conversation around him.
“Are there any medications for it?”
“Not for genetic mutations, no. But there is a supplement mix that has shown to be beneficial for children with these kinds of issues. I’ve included it in the paperwork I just gave you. In terms of support there are a few Facebook groups…”
The world around me slows down as I stare at my boy—the creation of a freak accident.
My stomach swirls and for a moment I feel like I’m going to throw up.
Everything is spinning out of control, and I feel powerless to stop it.
FIFTY-ONE
ROWAN
From: [email protected]
