Phenytoin, you're fired

That's me, walking C in our kitchen
seven days after we stopped
the Phenytoin

Just a week after starting her on 100mg/day of Phenytoin [background], C. had a couple of horrific days, seizing terribly and for hours on end. Nothing I gave her stopped them.

On the second horrific day and after five hours of that hell, I reported it to her new neurologist, I also just stopped administering it even before her response.

She emailed us back, agreeing that in rare cases phenytoin can exacerbate instead of improving the situation.

I pointed out to her that on the day of five hours worth of convulsing, C. also had a bloody nose and her menstrual period. Now, she never gets the former and hasn't had the latter in about a decade. 

The neurologist attributed the bloody nose to our dry weather. I doubt that. Dry weather is common in these parts but, as I noted, nary a bloody nose. The menstruation stumped her.

Well, the nose dried up quickly. The period, though light, is still ongoing. All very strange.

So we're back to square one with medications.

The neurologist hasn't suggested any others to experiment with. I hope she won't jump to the second option she mentioned after medications: the Ketogenic Diet. I haven't got the stamina for that anymore.

I was some twenty years younger the last time we attempted it. We persevered then for ten months and only ditched it when C. began vomiting several times a day from the high fat content.

The neurologist was pretty eager for us to try it when we visited her two months ago. But she seemed even more eager about Vagal Nerve Stimulator surgery. 

The idea of surgery leaves me positively cold particularly since a surgeon warned us a couple of years ago that it would be "complicated" in C.'s case. She has had an old, non-functional VNS stuck in her neck since 1999. It is undoubtedly coated with all sorts of tissue by now.

So C. is back to seizing quite a lot and functioning poorly. It is a bleak situation and her new diagnosis of Epileptic Encephalopathy Early Onset 11 due to an SCN2A de novo mutation only bleakens it more.

The academic articles about her syndrome which we receive thanks to Google Alert make it clear that there is currently no salvation our there for Haya.

This last one, for instance, taught me that her current seizure situation qualifies as Status Epilepticus.

Diagnosis delirium

From Beyond the Ion Channel: The ILAE Genetics Commission Blog 

It only took 24 years but the idiopathic era is now behind us. Because we finally have a name. A name, that is, for what makes C. seize uncontrollably and incapable of doing just about everything.

It's Early Infantile Epileptic Encephalopathy Type 11 - or EEIE11 for short - for which we owe thanks to a mutation of the gene SCN2A.

We received the news in the geneticist's office which we entered and exited in 15 minutes. There just wasn't much for her to tell us, other than our daughter is the only one in the world with the mutation on the specific protein she's got.

And to learn more: "Go home and Google it." (She said she would have herself but came unprepared because of an office scheduling snafu.)

It goes without saying our fingers are calloused from heeding her advice. But Google has offered precious little. We now know that this diagnosis is rare, still being researched and at this point untreatable.

The silver lining to this bleak news is that the mutation is de novo.

That means it isn't hereditary and, consequently, is of no concern to our offspring. The de novo-ness was confirmed by doing the same full exome test for me and my husband which revealed that neither of us carries that mutation. From what I've read thus far, I've also learned that the most severely affected cases are the de novo ones. (A cloud in the silver lining?)

This thing is so rare that a couple of journal articles report studies of individual children afflicted.

Which leads me to believe that some neurologist out there might be eager to study our C. Not only is she rare, but our geneticist said that she's the only person with the mutation on that specific protein of SCN2A.

Since I will never give up hunting for some treatment that might just ameliorate C.'s condition even a smidgeon, I'm asking anyone who has had experience with this syndrome/mutation to please contact me.

In the meantime, here (above) is a video clip of my daughter C, showing slight progress with pushing her switch to play music.