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.
We actually got a similar result from genetic testing this past year as well. For Darien, it is the SCN2A gene. Not from me. Not from my husband. His brother doesn't have it. Just random. Also undocumented. What is the specific gene on Maya's end?
Hugs to you Dana. You are a trailblazer, as Maya is. And you will both make a difference because of this. you already are.
Well, you already knew Maya was unique... :)Fancy being the first person EVER to have this kind of mutation documented???
Seriously though, fascinating stuff, and I await the next set of results with interest.
I agree with Beth, Maya is definiately one of a kind. Actually, the first thing that popped into my head was - what about stem cells? Is it possible to save the cord blood from the new baby and use those stem cells to fix mutation?
You have taken the thoughts from my heart and put them perfectly! My daughter is also undiagnosed. After 3+ years of testing and genetics telling us the science just isn't there yet it doesn't get any easier. She does have a mutation that no one has seen before.
They can put a man on the moon and help a man maintain his manhood but they cannot tell us what is "wrong" with our little girl and what it means for her life.
Keep the faith!
Thank you for this. We've awaited MeDomic testing, mtDNA testing, POLG testing, SCAs gene testing, glycogin storage testing, microarray testing and now we wait for Exome, this is not including all the many gene testings we've had such as Huntingtons, Parkinsons and other neurodegenerative diseases. It's just not been an easy 3 and a half year road for us either. You give us hope - we needed that and thank you - this came at the perfect time. Very Sincerely, Christy - Amy's mom
Dana - congratulations, first of all, on the outstanding effort to make it this far. These negative and ambiguous tests must get so terribly tiresome.
This latest test might take some time to figure out, especially if Maya's mutation is completely new, but it's promising stuff, and could be the start of some real progress for helping Maya (and others like her) to get better.
You and your readers might be excited to know that this new type of genetic test is now more accessible than ever. No more fundraising required - both the US and UK governments are more than happy to foot the bill, so long as your doctor feels that it will help.
For people in the US, ask your doctor about this:
If you're in the UK, see: http://www.ddduk.org/
Fingers crossed for all.
We understand exactly what you mean when you "kind of " have an answer. Leaves you that feeling of "where do we go from here..." seeing as there is no prior information.
Our daughter is 3.5yr old and also is non-verbal, has developmental delays, and a seizure disorder.
After our (long) wait for our genetic testing to come back, we found she has very small part of her 21 chromosome missing. We also got the "We're unsure of the outcome as we haven't seen this before."
We have found a group based in the UK called Unique (www.rarechromo.org). They have not been able to give us many more ansers, but have connectd us with other "unique" families.
All the best to you and the family!
Just wanted to give some (((hugs))) and you wait for the next round of tests and process the results of this one.
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