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.