Starting PGD

Being back in the dreaded Two Week Wait, I thought I’d continue the narrative of my 3 year fertility journey so far.

When last I wrote, I was extolling the virtues of my RE, who persuaded my uber-religious parents to submit their DNA so Kyle and I could do PGD for Fragile X.

To start the process of PGD, my parents + Kyle and I were asked for DNA in two forms: a cheek swab and a blood test.

The cheek swabs were sent to a lab in Michigan for a FOUR MONTH analysis (more waiting! yay!) that resulted in a “probe,” which to the best of my knowledge is a detailed map of certain sections of the X chromosome. The scientists find the FMR1 gene and then record the bigger genetic markers nearby. When the embryos’ DNA samples arrive for comparison, those bigger genetic markers are much easier to spot. I wish I knew more, but this technology is so specialized (and new, 2008) that my doctors don’t really know, either.

The blood test tells us which parent is the Fragile X carrier, how bad their mutation is, and how its severity changed between generations so the lab can extrapolate how it might appear in our kids.

The doctors assumed Mom was the carrier because that’s the way X-linked genetic things usually work, and because:

1) Males are rarely just carriers; they often show signs of Fragile X because they have no 2nd X chromosome to fall back on
2) She had two miscarriages, a common plight for carriers (I remember being at the hospital for one of her D&C’s)
3) She had a cousin who was mentally retarded, indicating potential family history
4) If you can follow me for a sec here, I’m my mom’s only daughter and she was her mom’s only daughter, so if the Fragile X gene were passed down maternally, it makes sense that my mother’s cousin would have it but none of my first cousins would.

A week or so after everyone’s DNA was in, our RE called. “You’re not going to believe this,” she said. “The blood tests came back. It’s your dad!”

It is truly poetic that my dad, who was most against PGD/IVF, wound up being the Fragile X source. After the hair-raising phone call Dr. Avery had with my parents, she was a little entertained, too.

However, I’m glad we didn’t know sooner because things might have turned out differently. In addition to Dr. Avery’s persuasion, I also wonder if Mom quietly begged Dad to cooperate because she felt it was her “fault.” I don’t know if Dad would’ve reached that point on his own, and Mom wouldn’t have had quite the same power.*

Dad’s reaction to the news was, “Well, Mom will be relieved that it’s not her.” And since then, he’s bounced back and forth between apologizing for “giving me bad genes” and giving me his unsolicited adoption research. He also worries that every little shake in his hand is the onset of Fragile X tremor ataxia syndrome, which can appear in male carriers over 50. There’s no doubt he is rattled like the rest of us.

*Speaking up would be a departure for my mother because my parents’ interpersonal dynamic is typical of the strong religious model. Dad Knows Best and Mom spends a lot of energy trying not to rock the boat. Because of that, Mom has developed an annoying habit (ok, “coping mechanism”) of NEVER EXPRESSING HER OWN OPINIONS. She mirrors whom she’s with at the moment. At heart I suspect she is liberal, but she has heard my father’s fervent opinions about homosexuality, abortion, and premarital sex so often that she thinks they’re her own. (On a side note, isn’t it interesting that all of Dad’s hot-button issues revolve around sex? Hmm.)

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