Embraced by the SCN2A community

Source: https://www.scn2a.org/

Last week I participated in a second Zoom session with other parents of children with the SCN2A mutation. As I've mentioned, we learned in August 2019, after 24 years of searching, that the underlying cause of Haya's disabilities is that genetic mutation.

The support group I've joined has nearly 700 member families from around the world. 

That Zoom conversation had six other participants. One from Kansas City, one from Massachusetts, one from England, one from Queensland, Australia, one from Germany. It was so interesting and edifying.

The two American mothers were involved with the formation of the SCN2A support group in 2013. So they had history to share e.g. when there were only a handful of members they concluded that the mutation must be limited to those with Irish/British ancestry, which they all had. 

That was debunked soon afterwards.

Next came the revelation that some children with autism have the mutation. Today, with US insurance companies funding genetic testing of autistic, most of the documented SCN2A children are afflicted with autism rather than Early Onset Encephalopathy Type 11 is which Haya has.

 
I also learned a bit more about the difference between Gain of Function and Loss of Function children. It seems that when epilepsy erupts later than the first few months of life, it's most likely that the child has Loss of Function, in which case meds that are categorized as Sodium Channel Blockers will exacerbate seizures. 

That would explain why Phenytoin, one such drug, only worsened Haya's seizures when we tried it several months ago. A neurologist familiar with SCN2A would have known that, since her epilepsy erupted at 14 months old, Haya is probably a Loss of Function child. 

Consequently, Phenytoin was a bad choice of med. But her neurologist has told us that she has no other SCN2A patients.

I recently acquired a list of Israeli doctors who have written articles related to this gene. (The parent from Germany who Zoom-chatted with us shared it with me.)

I intend to inquire whether any of them have clinical experience with SCN2A patients.

Me ZOOMing with the group

I also found out at that chat that research into gene therapy for this mutation has reached the stage of clinical trials on humans. It goes by the name Antisense Oligonucleotide Therapy. 

Unfortunately, if proven efficacious, it will only be beneficial to those who have Gain of Function. So Haya is out of the game.

Finally, it was inspirational to connect with other parents of profoundly affected children who have not institutionalized them, who continue raising them with love and devotion despite the challenges involved. 

I still vividly recall a neurologist advising me to institutionalize Haya when she was one year old! That same advice was repeatedly handed me over the years until she aged out of the educational system at age 21.

When will Israel abandon its archaic approach to caring for its most vulnerable children??? When will institutions like Aleh be shuttered???

In the meantime, readers, if any of you knows of an SCN2A child in Israel, please contact me!

Haya's Super Tuesday results

Well, we had our own Super Tuesday yesterday right here.

First, a miraculous visit to the neurologist. On Sunday, after countless phone calls to the doctor's secretary and receptionist over six weeks, we finally scored an appointment. She's that very senior and popular neurologist to whom we brought Haya in August 2019. 

Subsequent to that first visit, on that doctor's advice, we tried adding Phenytoin to the Vimpat, Keppra and medicinal cannabis which Haya already receives. After only ten days, it proved disastrous - read: oodles of additional seizures. We promptly stopped it, also on that doctor's advice.

 
Since then, the only change we've made has been independently adding Curcumin supplements. They seem useless. We've observed no changes in her condition whatsoever.

Now here's what today's visit - at which only my husband was present - yielded:

• Doctor recommends trying the ketogenic diet. I'm wary of that. It was such a nightmarish 10 months when we last did that some twenty years ago. But the doctor assures us that nowadays we'll have a qualified professional dietician guiding us and Haya should not end up vomiting incessantly from all the fat - as she did twenty years ago when no neurologist or dietician in this region had a clue about the diet. So we'll see about that option. I recall reading that it isn't terribly effective with SCN2A patients.
• The doctor will be administering a 24 hour Video EEG in the near future. We await a date. One hurdle here is getting the head nurse in the pediatric ward to admit Haya despite her being nearly 25. Since our doctor is a pediatric neurologist, Haya must be in that ward.
• The doctor found my video clips of Haya's seizures and twitching - which Haya obliged me with the morning of our appointment - to be very helpful. You're welcome to view them below.
• The doctor told us that both of the meds we've read about as unorthodox treatments for SCN2A epilepsy - Lidocaine and Mexiletine - are unavailable here in Israel. But she said she would inquire about Mexiletine and is agreeable to trying it with Haya.
• She isn't a proponent of cannabis for epilepsy claiming there are no reliable studies to back that up. She only recommends Epidiolex, the first cannabis-based medication approved by the US Food and Drug Administration. While it's been available by prescription in all 50 states since 2018, it's not available yet in Israel.. 

Super Tuesday also had Haya doing hydrotherapy and flipping herself over several time of her own accord. Usually, I initiate the flipping. But yesterday she proved to be a flipping enthusiast - I had no idea she actually enjoys it so much.

Here she is at the start of one:

And then at night it was on to the assisted walking I am scrupulous about. Here we are plodding away, as we do for 45 minutes:

A "fail" for Phenytoin

Haya and me walking in the kitchen seven days
after we stopped the Phenytoin

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

On the second horrific day, after five hours of that hell I wrote her new neurologist about it. But even before her response, I just stopped administering it.

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

I pointed out to her that on the day of five hours worth of convulsing, Haya 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 weaather. I doubt that; we often have dry weather but, as I noted, never 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 10 months and only ditched it when Haya began vomitting 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 the 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 Haya'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 Haya 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.

Next Up: Phenytoin!

Haya's first dose of the new med last night

Very excited to share that Haya will finally try out a new anti epileptic - one that has been found successful in a significant percentage of EIEE11 cases. It's the first med change we're making since her diagnosis with that syndrome three months ago (see "At last - a pretty solid diagnosis")

I loathe giving her three anti-epileptics at once. But as the neurologist emphasized, the cardinal rule is one med change at a time. Once Haya's settled into the therapeutic dose of Phenytoin (also sold as Dilantin and Phenytek), the doctor promises to remove at least one of the others. 

She even asked me whether I thought either of them is effective. I told her I couldn't judge but did remember which was added last, Vimpat (lacosamide), and didn't think it had made a difference. 

The truth is, her other med, Keppra (levetiracetam), isn't anything to write home about either. 

I got the script for Phenytoin yesterday. And the photo above shows Haya getting her very first Phenytoin pill sold here as Epanutin.

When Haya's pediatrician heard that this was the drug selected by the neurologist, he was surprised. "When I was doing my residency, back in prehistoric days", he recalled, "we had only two anti-epileptics to administer: phenobarbitol and phenytoin. There are so many new ones on the market now." 

But those new ones just don't help Haya. Wikipedia says:

Phenytoin was first made in 1908 by the German chemist Heinrich Biltz and found useful for seizures in 1936. It is on the World Health Organization's List of Essential Medicines, the most effective and safe medicines needed in a health system.

Here's hoping that stellar reputation will prove well deserved!