It’s been more than a month since Ana passed. We miss her every day.
A quick update: Doctors feel like they have a pretty good grasp of why Ana had Zellweger’s Syndrome. It takes two Zellweger genes to get the syndrome. She likely got one of the genes from Sam or I. And the other likely came because of the unbalanced translocation in her chromosomes – she was missing most of one the two No. 22 chromosomes you’re supposed to have. So, doctors told us, one of Sam and I is likely a carrier for Zellweger’s and one of us likely has a chromosome rearrangement similar to Ana’s. That meant that any future children we had naturally would have a high probability of getting Zellweger’s again, which meant IVF (an expensive procedure that implants an embryo) would be the only option for pregnancy if we were going to try to have another baby.
They took blood last month from Sam and me to look at our chromosomes. On Wednesday, we got the results. It was just going to tell us which of us has the chromosome rearrangement that contributed to Ana’s. Whoever didn’t was likely a carrier of Zellweger’s.
But the results were a surprise, both to us and the doctors. The chromosomes of both Sam and I look normal. Ana’s chromosome mishap was a complete fluke. Somewhere around a 0.1 percent chance of happening. There’s no way to explain how or why it happened. It just occasionally does.
One of us is almost definitely still a carrier for Zellweger’s. We’ll start that testing soon. But as long as we’re not both carriers (around a 1 in 500 chance), then the great news is we shouldn’t have to use IVF (which costs around $25,000) for any potential future pregnancies.
Nothing is definite yet. We’ve still got more testing to do. But barring a 1 in 500 chance, we’ll be able to avoid IVF. And after a mountain of bad news in the last six weeks, a rare bit of positivity was worth celebrating in our eyes.
We poured a glass of wine last night and looked at our photos of Ana. Given the fluke of her chromosome rearrangement, it’s a miracle we even got the 13 days we had with her. We’re so, so thankful for those.
