Tell me again how rare it is (23 days)

Tell me again how rare it is

I’m going to scream if ONE MORE PERSON tells me how rare my situation is. I think the word “rare” is thrown around by doctors and geneticists and nurses and everyone else as a comfort - this really doesn’t happen to everyone. This really is very strange. What are the chances of this happening to you once, or even twice?

But you know what? It freaking happened to me. Twice. This, in my sphere, in my little world that now has two little urns in it, is not so rare anymore. In fact, it has become the norm.

When we went in for the big, bad, sad ultrasound on our first son, the doctor, who thought it was Trisomy 18, said the word “rare.”

Rare, they said, to have so many congenital issues across so many organ systems. Rare, it is, for the microarray to find nothing of clinical significance to blame.

Rarer still to have this happen twice, especially in a woman genetically undiagnosed. Rare again to not be able to find the gene that killed TWO babies. Exome testing is rare (though becoming far more mainstream in the last year), and rarer still to have an insurance company so willingly fork out the funds to find out what happened to two dead babies.

At our hospital, this situation has happened exactly twice in the last 20 years. I am the second case. One woman had three children with Connexin 26 (moderate to severe hearing loss), but that’s as close as they could come to finding a kinship for me in this club of sorrow. Besides, I would take deaf babies over dead babies every day of the week.

Now no one is doubtful it could happen a third time, because it happened twice —  especially in a row — but who is to know? How do you gamble on a total unknown? How to you place your bets without knowing the odds?

We swing back and forth over trying again naturally if the exome comes back with no answers for us — and usually I feel good about it. Then I met a woman who has had FOUR terminations for cystic fibrosis. FOUR. Cystic fibrosis is RECESSIVE. So our best case scenario, which is a recessive disease and a 25 percent chance of recurrence, has happened four times to someone else. It is a slap in the face - a wake up call - this can happen again. Just place your bets.