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.

A few fabulous firsts

My daughter C. has had several recent "firsts" that I've been derelict in relating. No valid excuse for that other than 24 hours just no longer suffice for me.

I 

C., my husband and I went to our local hospital to give blood for her first whole exome sequencing. Our own blood will only be used for comparison in the event that something comes up in her test.

The geneticist forewarned us that there's only a 20% chance of that happening. Meaning, the likelihood is we'll be left with the diagnosis we've lived with for over two decades, namely spontaneous mutation.

But since genetic testing is still cutting its teeth, there will undoubtedly be new tests available in the near future. C.'s blood will be stored for that eventuality.

II

C. has returned to the therapy pool - and to her regular, pink bathing suit - with a new hydro-therapist. As I grumbled here recently, her previous therapist ditched her because, as she explained, C. was stressing her out with her very occasional stressed seizures during sessions. .

So we tried out a new one which the school offered us. After two sessions with her, I believe I can safely declare her to be unequivocally perfect! 

Here she is with C. (above).

That beloved wetsuit I've been raving about is stashed away for now, unnecessary in the well-heated therapy pool. 

Besides, we're having a heat wave here and transporting C. in a wetsuit to the cooler pool where I work with her would be a torture for her. I'll miss giving her those longer 40-45 minute sessions. She only gets 30 at this school.

But the transporting is also a strain for my husband who is in the throes of a debilitating case of CMV.

III

C. went swinging for the first time in her life. We had a family gathering a couple of months ago where we discovered a swing suitable for children with disabilities. It doesn't accommodate a wheelchair but it was a treat nonetheless. 

So here she is (in the photo) discovering the sensation of swinging.

IV

The spiffy switch we'd been awaiting is finally here.

We've borrowed it from a local rehabilitiation center to try it out. If C. responds well we'll purchase one.

Here she is (on the right) pressing to trigger taped music and looking suitably engaged!

V

Unfortunately the "First" we're anxiously awaiting still - namely, having C. seated comfortably - has not yet materialized.

The modifications to the new chair which a physio-therapist at that same rehab center reccommended haven't arrived yet.

So C. is still suffering in her old, ill-fitting chair.