Today I looked in the mirror and I saw someone I barely recognize. I’m pale. The bags under my eyes are purple. My lips are drawn tight in a thin line.

It is really hard for me to explain quite how difficult the last two weeks have been. I have tried to hide it, but like everything with me–the way I feel is written all over my face.

Last night I realized that I wasn’t here, saying what I am thinking and feeling. Instead, I think I have been trying to hold myself so tightly. And that, readers, was part of the problem. Not the whole problem, certainly. But part.

I felt afraid to come on here and just say it–the thing that is keeping me awake at night, the first thought in my head when I wake up every morning. I’m not exactly certain what I was (am) afraid of. I’ve been able to tell people in person, to talk about it in the sort of limited public service announcement ways. Perhaps some of the usual things that have scared me about writing here in the past–saying something here, publicly, makes it real. Saying something here makes me vulnerable.

And in this case, the thing I have to say is almost an anti-thing. It is a thing that is so veiled in the land of medical unknowns (where this family dwells), that it is hard to take ahold of the thing to explain it at all…even for people who are supposed to know all about such things.

But, here goes, I will get to the point.

Esmé’s most recent genetic testing has come back showing a second small mutation. We expected this result in some ways. When Esmé was first found to have a mutation in PCDH19, and we didn’t find other girls who shared some of the medical issues Esmé has (remarkable low tone, severe developmental delays, choreathetoid movements, and so on) we had expected that she might be a very severe presentation of the disorder or that (more likely) she had an additional disorder.

This is why we kept looking for answers buried somewhere in her genes. We asked the testing facility to look further, to dig deeper into her DNA to try to help us make sense of why she struggles so very much. We hoped to find something more, and we were afraid to find something more.

I reassured myself that at least what we might find would have to be less rare than PCDH19. It would have to be better understood. I would have to give us some kind of more concrete answer. Because how could it be otherwise? How possibly could it be otherwise?

But, like so very much of these last years, this plan that I laid out in my mind was not the plan laid out in Esmé’s genes.

What we have found is another very small mutation. This one tiny letter switched out for a second letter may be wreaking havoc on her body. It is certainly wreaking havoc on my mind…such a tiny little thing. An error: Oops!

The mutation is in a gene, called SCN8A, that, when mutated, is known to cause a set of symptoms that better describes my daughter than just about anything we’ve come across thus far: low tone, movement disorder, GI problems, seizures, poor to no mobility, little to no spoken language, autonomic disfunction. It is all rather convincing to me from that perspective.

But life is not always even that neat.

Although I am told genetics can often offer clear and concise explanations for some families–genetics seems only to offer us non-answers that come with an asterisk attached. This gene is–wait for it–newer and rarer than our first mutation in PCDH19. This gene is now among those tested for in the panel that found Esmé’s PCDH19 mutation, but it wasn’t on the test two years ago when she was tested. There are approximately 53 cases known. And, as a result, it is very hard to know whether a mutation is the cause of a disease or not (in the absence of a whole host of other examples to compare it to). So the mutations are mainly reported as “of unknown significance.”

There is a whole handful of information and interpretation that goes into deciding whether a mutation will be disease-causing: modeling of what this mutation might do to the protein built by the instructions in this gene, projection about how “important” these portions of the code might be, and a lengthy wait while the frontier of what genetics “knows” expands into what it “suspects” and even further, into the places my daughter seems determined to illuminate.

And while I see my daughter in what little I know about this disorder…it is not exactly a diagnosis, per se. It is a suspicion. A hint. A thread to pull on…because aside from these two threads–PCDH19 and SCN8A–there are no others.

It is not an easy thing to have another extraordinarily rare disorder to learn about…it is less easy when that disorder doesn’t fully seem confirmed in the way four years of testing lead me to hope for.

It is certainly less easy when it is a diagnosis that my heart wants to resist because children with it have died at alarming rates…because it doesn’t offer the kinds of answers I want: Clear answers.

Answers to act upon.

Instead I feel like I am in a state of perpetual mourning…my heart recognizing the truth of this mutation in descriptions of the children with it…while still struggling with the idea that we still don’t “know” more, that, in a weird way, I feel like we know less.

Strangely I feel as though Esmé is less diagnosed than she has ever been.

So it is big–and yet, not so big–news.

2 Comments

  • I hope that this doesn’t seem callous to your current state of crisis. I comment as a mother of a child with very serious issues. I think that, in the end, the genetic mutation is irrelevant. The number and name, the rated %tiles of occurrences, they don’t change anything. In the end, you are left mourning the loss of what might have been with your beautiful daughter. It’s not the genetic testing. It’s the life that is turning out differently than you had imagined.

    We had lots of genetic testing done. My daughter has some diagnoses, some fit better than others. In the end, it’s the day-to-day life, the struggle. The milestones that are not met, and I question if they ever will. It’s the perpetual grief cycle that parents of special needs children get thrown into time and time again…

    I send you hugs and mutual tears. The only thing that has helped me on my journey with Emma, has been taking my experiences and trying to put them to use to help others. I need meaning for my very challenging experience as a parent. I hope that you find a measure of peace

    All the best-
    Daleth

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