When you’re on your sixth genetic test and the results have been “normal” every.single.time., it becomes difficult to anticipate hearing anything but “The results were typical.”
When you’ve been looking for the answer for three and a half years, you don’t really expect one anymore.
And so last Thursday, on the first day of Maya’s summer vacation, while she played with Dave at home and I sat in the waiting room of my obstetrician’s office, the samples that we had sent out for exome sequencing back in December were just about literally the last thing on my mind. I was waiting not-so-patiently for my glucose test blood draw, thinking about what I would eat when it was done, and mentally composing a to-do list that was roughly 100 items long. I took out my phone to jot down a reminder and saw that I had new email. From Dr. Yale. Which said:
Is there a time that we can talk?
I’m on call until tomorrow, tomorrow afternoon would work well for me.
If I could have called right then, from the waiting room, I would have. Tomorrow afternoon? Really? It’s difficult to wait for results. It’s painful to get a hint that seems to say there is an actual result of interest (if there had been nothing found I expected that we would have heard later, rather than close to the six month mark) and I have to wait to hear it. It’s torture to know that something genetic has probably been found in your child, and you are 6 months pregnant with another child, and now you have to wait another day to hear the results.
I emailed back requesting an earlier call (and paraphrasing that last sentence in the above paragraph) and Dr. Yale replied that I shouldn’t worry, results were tentative and very unlikely to repeat in a subsequent pregnancy, and that tomorrow afternoon was really the earliest time that he could talk.
So, we waited . . . kind of. We weren’t about to just waste a day of Maya’s time off sitting around, so we spent a lot of the next day at the mall, and when it was time to take the call about the results I found a quiet corner of Barnes & Noble, settled in, and took rapid notes on my tiny pocket notepad.
Here are the facts, presented for the sciency folks first and then translated for the general population.
Sciency: The research team has a tentative finding. They found a de novo nonsense mutation. While they can’t be certain that the finding is causative, the activity of the proteins produced by this gene have appeared to be potentially developmentally significant (as indicated in prior research), making a reasonable case for this mutation being causative in nature. This mutation has never been documented before.
Translated: The research team has found a mutation that might be significant. The mutation did not come from Dave or from me, and therefore was totally random and spontaneous, happening some time very shortly after conception. This means that the chance of it happening again (or the chance of it happening the first time, for that matter) is very close to 0%. The team cannot be certain that this mutation is the cause of Maya’s developmental delays, but it seems like a solid possibility.
This mutation has never been documented before.
There is no syndrome name, or support network. No articles to read or charts to compare. And so, even with a (possible) answer, we are still in the not knowing. Still in uncharted territory, perhaps now even more so than before.
Dr. Yale went on to tell me about further testing that we could do, which would help to determine whether this finding is in fact causative (meaning, is this finding “the answer”, or just a random unrelated thing).
(We returned to Yale yesterday to give samples for this next round of testing, which will examine the proteins created by this gene. Many genes code for proteins, and the proteins created by this particular gene have been found to be active during fetal development and early childhood . . . so, if Maya’s instructions for making the protein are garbled, and the proteins are possibly misshapen, it would make sense that development could be affected. (On the flip side, if the proteins made by this gene have been shown to only be active in, say, the kidneys, we would know that this mutation probably wasn’t linked to global developmental delays.) This round of tests will likely take a few more months to come back.)
The call ended, we had frozen yogurt at the mall, picked up a birthday present for one of Maya’s little friends, and drove home. That night, after Maya was tucked into bed, we called and emailed family and gave them the news. I had forgotten how draining it is to tell, and then retell, medical results.
The most common question that’s come my way is “how do you feel about it?”
So far, honestly, I’m not feeling much. I’ve got a kind of delicious numbness happening, and I know that somewhere beneath it are some good feelings all twisted around some negative ones, and I don’t feel the need to try to sink into that and untangle it all just yet. Instead, I’m going to enjoy the rest of my family’s week off. There’s time for thinking later.
We remain extremely grateful to the people who donated to Maya’s sequencing back in December---your support made this finding possible. Now we’ll wait to see where it leads. Thank you.