Thursday, June 1, 2017


So, here it is. The update 8.5 years in the making. 

Back in December, I received a message from a blog reader inquiring about a particular syndrome, and whether Maya might have it (this happens from time to time). She was very nice and explained that Maya looks a lot like a relative of hers, who was recently diagnosed with a rare syndrome. (You may remember that our first exome sequencing was conducted in 2012 as part of a research project. At that time they identified a gene mutation as a possible causative issue for Maya, but we just filed that information away since there was no associated syndrome----yet. And then I intentionally pushed it to the way back of my mind and grew to mostly really enjoy being undiagnosed-ish.) After receiving this email, I dug back in my paperwork from our exome sequencing and found that this reader was naming the same gene that our research team had highlighted as probably-noteworthy-but-too-new-to-really-know (MED13L). 

Fast forward to March, when we met with a new geneticist who happens to be connected to a group conducting research on this gene (actually on a whole group of genes, including this one). She re-ran our genetic sequencing (since the first sequence was done as part of research it wasn't in Maya's clinical file) and last week we found out that this round of testing confirmed the earlier result. Maya has a genetic mutation on the MED13L gene. The test also confirmed that this mutation (one little t nucleotide that should have been a c) was de novo, meaning that it was a chance occurrence (Dave and I were also tested and neither of us carries that mutation).

And so, Maya now has an official medical diagnosis. She has a rare genetic syndrome called MED13L syndrome. The information about this syndrome is pretty limited. There seem to be around 100 people (maybe? maybe less?) worldwide that currently carry this diagnosis, and it's rare enough that it's not even included yet on this list of rare diseases (interestingly, the criteria here for "rare" is 200,000 diagnoses or less, so 100 people is like . . . wow). As whole exome sequencing becomes a more common practice for children with unknown genetic conditions, we expect that the number of people diagnosed with MED13L syndrome will increase. 

Right now, the disorder is only characterized by people who have been identified with the condition. While some of the characteristics that currently define the disorder are a match for Maya (for example, speech problems and ataxia--lack of balance) others are clearly not (for example, she does not exhibit short stature or have a cleft palate, and she has recently revisited a cardiologist and had bloodwork done to confirm that we have no concerns regarding cardiac malformations or leukemia). 

If you think about the people most likely to pursue non-routine comprehensive genetic testing, many of them fall into a few categories: a) those with younger undiagnosed children, who may have access to this newer testing in a more routine manner (when Maya was tested, microarrays were a common last genetic step---now, it seems that exome sequencing is routinely offered to some), b) those who have older children who have continued to pursue non-routine genetic testing or follow up regularly with genetics, and c) those who get an email from a blog reader suggesting it. (I think that third category is pretty small). To that end, we don't expect to gain a lot of information about prognosis----because many of the children are young, and the older diagnosed individuals could disproportionately represent the characteristics of the condition. Basically, the data set is small, and small data sets are shaky.  

Also, we don't know if any of these individuals have had access to the communication and writing technology that Maya has been immersed in from toddler-hood (clearly, we would never have known how clever she is without her ability to write and talk with her device . . . and that lack of knowledge would have impacted her educational opportunities and general life path). What we do hope to find out from other families is possible medical information---what medications work well in our children, which don't, whether there are any complications to look out for, etc. And maybe to makes connections with a new community, too. 

It's interesting to have a diagnosis after almost 9 years of not having one. In the beginning the diagnosis seemed desperately important, but at some point I really grew into being "undiagnosed"---I liked the absence of labels, the fact that no one could google a disorder and somehow think that they knew Maya, or what she might be capable of, based on an online blurb. I'm truly grateful for those undiagnosed years. So . . . bittersweet, I think. Or maybe not even all that meaningful. I'm not sure yet. I've got a lot to learn about, and a lot to process---and I'm sure that I'll share more about all of it as it unfolds, in time. But for right now this transition---this end-of-the-undiagnosed-ness--- it feels like the end of a chapter, and there's something to be said for finishing a chapter and turning the page to start the next one.

(Image is a montage of photos from Tuesday, Maya's 9th birthday, including: Maya and Will blowing out the candles on her cake, Maya and Will in her classroom for a special lunch party, Maya and Will sharing a hug, Maya smiling at a present, and Maya gazing happily at her new nutcracker)

(Image is the typed word "Undiagnosed", a blue marker has crossed out the "Un" and added a the date of our official diagnosis underneath, 5/25/17.)


Karen K said...

My daughter also has a rare genetic change. She is one of about 200 or so diagnosed right now worldwide. Our numbers keep growing with so many more whole exome tests being run and there are probably a lot of undiagnosed kids and adult out there as well. It is a strange feeling being some of the "first" batch of diagnosed individuals. We have found that having the connection with other parents of kids with the same gene change is life changing. No one understands our kids like we do. We can see so many small similarities in our kids, but they are truly a spectrum from devastating epilepsy, to children with no seizures, but non verbal, to kids with speech (although they are the very rare ones right now), but other delays. I hope you do connect with the other families, it is the weirdest feeling when you almost instantly bond with a stranger because of this one little gene. Good luck on this new chapter. Yours, Maya's and your whole family's experience will touch even more lives moving forward.

Unknown said...

She's Maya. Absolutely one of a kind. Teaching us all something new everyday. Dx or no Dx, she has an amazing team of people who believe in her and support her. You never gave up. Let's see what this next chapter brings.

Anonymous said...

I'm happy to hear that! i hope we will find our answers some day

Nicole said...

My daughter turned 18 March 2018 and just last week she was diagnosed with MED13L. It’s been a relief finally having some answers.

Unknown said...

My son was diagnosed with MED13L this week (18 October 2018), I agree with the bittersweet. I always lived with a little kernel of hope that he was delay, not disabled, and would eventually catch up. That door was firmly closed on Thursday and I'm trying to find the energy to push open the next door on the next chapter of our lives. I'm so tired.....

Anonymous said...

It had been a while, but wondering how you are doing and whether you were able to find the strength to eventually open that next door