Genetics and a grown-up mutant ninja mama!

It’s like this: They had the best intentions, see, but my own mom and dad spawned something of a genetic mutant in yours truly. A rad, ninja mutant, but still.

On the one hand, there’s Maturity Onset Diabetes of the Young (otherwise known as MODY). It walks/talks/acts just like Type II diabetes except without the classic risk factors of age and weight and, sometimes, sans the complications of Type II diabetes. Turns out, my blood glucose has always been slightly elevated, so – for the past nearly 30 years – my body’s made a valiant attempt to deal. In pregnancy, though, nearly 50 percent of gals with MODY will develop gestational diabetes and some of those will require insulin. (Boo. And thanks mom!)

On the other hand, there’s Factor V Leiden, a single point gene mutation linked to deep vein thrombosis: dangerous blood clots. While treatment till now has not been terribly disruptive (think: stretching my legs on long flights and steering clear of estrogen-based birth control), in pregnancy, I’ll require daily injections of Lovenox on account of maternal – and fetal – health risks. (Boo. And thanks dad.)

When I get knocked up, I’m going to be knocked up high-risk! So, bearing in mind that proactive parenting starts now, on our OB’s suggestion, The Hub and I met today with a genetic counselor and high-risk specialist in maternal/fetal medicine at one of Greater Boston’s finest hospitals.

Seriously the best, most informative move ever. Over the span of two hours, we talked through our families pasts, our collective present, and our Projected Progeny’s future. For what wacky genetic hand-me-down would our kid have us to thank? What sort of prenatal testing would be useful in our individual sitch, and – under what circumstances, if any – would we elect not to carry a pregnancy to term?

The Real: Genetic testing makes serious sense to us. It probably doesn’t to everyone. It’s probably not available to everyone – and, goodness knows, our own mothers weren’t privy to the same sort of awesome insights as we and, even if they were, the results of genetic testing might not have changed their minds any about whether to get knocked up in the first place or carry a fetus to term. But the Projected Papa Pro and I agree: While we’re steadfast in our decision to get preggers, we’re prepared, if necessary, to make a hard decision not to carry a pregnancy to term under certain limited, serious circumstances. Think family-life-altering tough stuff. Think: Suffering and premature death. 

So, today, in an effort to determine whether I’m a carrier for two very common (but, indeed, potentially family-life-altering, serious conditions), Cystic Fibrosis and Fragile X, I was picked and prodded. Shortly, The Hub will follow suit to determine whether he’s a carrier for any of the Ashkenazi gene mutations. And – in two weeks time, when we get our report card – we’ve vowed to keep it in perspective.

Slightly-scary as the truth sometimes is, it feels responsible: one of many decisions we’ll make on behalf of Us Junior and our family, in our family’s best interest, and because we must. Because we’re Would-Be Parents.

About Projected Progenitor

Projected (adj.) (prə-ˈjekt-ed): From the 15th Century Anglo-French 'projector,' from Latin 'projectus.' Devised in the mind, predicted. Progenitor (n.) (prō-ˈje-nə-tər): Middle English, from the 14th Century Anglo-French 'progenitour,' from Latin 'progenitor,' meaning 'to beget.' An ancestor in the direct line, foreparent.
This entry was posted in High-Risk Pregnancy, Pre-Conception. Bookmark the permalink.

Leave a Reply

Fill in your details below or click an icon to log in: Logo

You are commenting using your account. Log Out /  Change )

Google+ photo

You are commenting using your Google+ account. Log Out /  Change )

Twitter picture

You are commenting using your Twitter account. Log Out /  Change )

Facebook photo

You are commenting using your Facebook account. Log Out /  Change )


Connecting to %s