The First Meeting

Yesterday, we went downtown after a comedy of errors that took us to the suburban location of the hospital system.  We met with the genetic counselor and the prenatal diagnosis doctor to talk about the results of Little Girl's test results, as I'd mentioned in yesterday's post.

For more details, the results did confirm that she is >200 in CGG repeats.  We had to sit through the genetic counselor's introductory lecture on reproductive genetics and what amounted to basic high school Punnet Square lessons.  As a genetic counselor, she's trained to be very nice, soft-spoken, and supportive, so I had to at least give her the benefit of the doubt as I'm sure she encounters many families who don't remember their high school biology (and I'm sure younger than I).

(I do remember quite vividly that cytosine and guanine pair, and adenine and thymine pair; the mnemonic device I used to remember that is in the shape of the letters.  C and G are round, A and T have straight lines)

But the basic lessons were a bit insulting, I have to admit.  As was the review of the effects of Fragile X, as if Lori and I hadn't been spending nearly all of our waking hours for the past 3 weeks poring over every Fragile X resource we can find to learn all we can about this condition.

I wanted to know whether the specific number of repeats correlated to the observed severity of symptoms in a child.  That resulted in a two-part question: is the test that was performed after the CVS capable of detecting the actual number of repeats or does it just stop after the 200 threshold is reached?  And second, does the correlation exist between frequency of repeats and the severity of impairments?

The counselor was unable to answer those questions directly, though she did try her best with a bunch of industry double-speak and vagueries.  The short version of her answer, though, was "the Southern Blot test can pinpoint the specific frequency of CGG repeats," and "nobody knows."

In my programmer/analyst mind, I can accept a vague answer.  Not every problem can have a clearly defined solution, especially not right away.  And considering that Fragile X was essentially only discovered just over 20 years ago, it's still comparatively a new "disease" or condition.

Although I hate to call it a "disease" because that would imply that Fragile X can be "caught," like an infection.

But as a parent, that uncertainty displeases me.  I know we're in for a long road, but not knowing what any of that looks like just doesn't sit well.  And double that with helplessly watching my wife being crushed by her own sense of guilt and despair and not know what to do for her -- my heart & soul -- and it's a wonder that I can write any of this with clarity and forethought.

If I let my emotions take over, I suppose this post would look more like "SAUO'WZS9USV-0Ue-0u
aeyr-u2[[efvA9BP'A;BABRY9;094UYBA90!!!!!!!!"

(this is probably why CTRL+ALT+DEL is a very specific key combination)

Finally, the counselor also had to bring up "managing the pregnancy," a gentle little euphemism for abortion.  She brought it up as a legal requirement since 24 weeks is the limit.  For us, that's not an option.  The inability of the medical establishment to clearly define whether Little Girl is going to be a helpless vegetable with nary a brain stem and heart or a perfectly fine baby with maybe some difficulties comprehending math in a linear fashion is not enough to justify or warrant termination.

My stomach just churns at the thought.

We're a pro-choice family, but lest I inadvertently turn this into a political affair, my support of choice does not mean that I automatically choose to terminate.  We are merely exercising our freedom of choice and choosing to have this baby.  We know it's going to be hard, and the uncertainty of the future is scary.  But I believe we're strong enough, even if Lori doesn't feel that she is.

For all I know, the universe may have chosen us to have one or maybe two kids with FX because we can potentially be more advocates for the condition, like some of our friends who have autistic children.