At last - a pretty solid diagnosis

Let's hear it for the whole exome sequencing (WES) test and the Ministry of Health! (After all, it picked up the tab.)

After 24 years, we finally have a pretty solid diagnosis for Haya's symptoms; idiopathic has been officially deleted from our lexicon.

What was found is a mutation on the gene SCN2A. We learned the news in the geneticist's office which we entered and exited in 15 minutes.

A couple of weeks later, we received a more detailed summary of the findings which told us, among other things that a genetic variant was found which is designated VOUS or Variant of Unknown Significance on the gene SCN2A on Chromosome 2, exone 5

Mutations elsewhere on this gene are known to be the cause of Early Onset Epileptic Encephalopathy Type 11 (or EIEE11), a syndrome with symptoms identical to Haya's. 

While Haya's variant is on a spot where no other person is known to have one, the geneticists concluded that because 

"her clinical picture matches the clinical picture described in the EIEE 11 Syndrome, we are inclined to say that there is a high probability that the variant found in checking SCN2A which is described in the gene exome constitutes the cause of her illness... The laboratory in Germany that carried out the test concurred that the finding is a possible identification of the cause of her illness... It can be said with high likelihood that the parents and their offspring are not in any increased danger of a repeat of this anomaly in future pregnancies."

The geneticist recommended we consult a young local pediatric neurologist who might have some fresh treatment suggestions. She also promised to send Haya's file to a neurologist in California who is researching this very syndrome.

But trusty Google has provided precious little further info. We now know that this diagnosis is rare, still being researched and that at this point, no reliable treatments are known. 

We're hoping that one of those two new neurologists will help us. It's the nearly two and a half decades of clueless doctors that I've been vividly recalling. Clueless and arrogant.

There was the developmental pediatrician who was the first specialist we consulted. He summoned his entire staff at the Center for Child Development, which he headed. into his office one morning while he examined Haya. With utter confidence, he declared to his audience that she had been infected and damaged by CMV in utero. The trouble was, the blood test which I subsequently had proved him just as utterly wrong. I hadn't had CMV during my pregnancy.

That didn't phase the guy. Several months later, he declared to me with the same utter confidence that Haya had Rett Syndrome. At the time, there was no blood test to contradict that wild guess. But her then-neurologist pronounced it a false diagnosis. She didn't have any of the major symptoms, one being the "hand-washing" which had prompted Dr. Andreas Rett to classify this group of children as distinctive. 

A few years later, Israel's chief Rett expert examined her and declared that her gait indicated that Haya was indeed a Rett child. But when new blood tests finally appeared on the scene, they proved definitively that Haya did not have Rett.

I also recall another neurologist's declamation to me when Haya was about a year old: 

"She does not look like a child with a genetic disorder. It's not genetic." 

He also advised us to "send her away to an institution."

By now I'm sure it is clear why I am not a huge fan of neurologists. (You can read more about how I developed that distaste for them here: "A hospitalization journal".)

The silver lining to this bleak news is that the mutation is de novo. That means it wasn't inherited and, consequently, is of no concern to our offspring. Its de novo-ness was confirmed by doing the same whole exome test for me and my husband which proved that neither of us carries that mutation. 

One article I read posited that the most severe SCN2A cases are the de novo ones. A cloud in the silver lining?

One article that our son-in-law, a doctoral student of genetics, found us reports surprisingly encouraging results with unusual drugs. Conventional anti-epileptic drugs, it seems, actually exacerbate seizures for some Early Onset Epileptic Encephalopathy 11. 

But two drugs that are not intended to treat epilepsy were effective. Could that be why we find that Paracetamol helps her during a string of seizures?

In the meantime, here (above) is Haya showing slight progress with pushing her switch to play music.