Dismal day at the doctor and the dietician

We had a rendezvous with Haya's neurologist and dietician this week. 

My husband Arnold attended in person and I was on video Whatsapp (Haya did not attend). Fortunately it was succinct but not too heavy on the positive news. 

Here are its conclusions:

• Both agreed there will be no changes to the Ketogenic Diet or the drug regimen for the time being. We would ultimately like to reduce the meds but since Haya was hit with status epilepticus the last time we tried that, it's not a step the doctor wants to take again yet. 
• Both were also satisfied with the halt in Haya's weight gain although she remains 2-3 kilos heavier than she was when we began the diet. But she was gaunt then.
• The neurologist predicted, pretty definitively, that there will be no cognitive improvements down the road for Haya regardless of any changes we make in her treatment. Ever.
• The dietician emphasized that Haya's seizure control would probably improve if I readjusted her meal times. The goal should be to provide her with a longer night-time fasting stretch. Ten to twelve hours would be optimal. I'm aiming for that but not nearly there. Got to get my act together. 
• The neurologist. thought Haya's frequent right-leg twitching is probably not a seizure but rather some benign involuntary movement of which she is unaware due to her neurological state. I first noticed it several months ago but presumed it wasn't cause for concern; maybe even some normal habit she'd picked up. Arnold wasn't so sure so he raised it. I suppose "normal habit" isn't an option for Haya. 

This is the clip of that twitching which we showed the doctor.

And here is Haya in the hydrotherapy pool this week. We're keeping it up through rain and cold!

More med misery

The medicinal changes Haya is enduring began taking their toll on her some five days ago - many tough seizures throughout the day. 

Occasionally, acetaminophen gives her a few hours of relative calm. And, of course, the swimming pool worked its wonders on her yesterday. She performed there beautifully - see video below.

Haya in the pool with me

But otherwise it's an ordeal for all of us. We're aware that any changes in meds can throw these children off kilter. Yet, on the other hand, this may signal the need to return to her previous regimen and abandon the Fycompa.

I wrote to the neurologist for advice a few hours ago and await his response.

Finally: Fycompa

First Fycompa

Nearly two months after our tele-visit with Haya's new neurologist, we have, at long last, begun to administer the new anti-epileptic that he prescribed. The bureaucracy confronting us before acquiring it was daunting and, for the most part our health fund (HMO) gets the credit for that. 

We have given Haya two doses thus far and are holding our breath as we wait the six weeks to reach therapeutic levels. 

But we have already dropped one of her other meds - Vimpat - from 150 mg. to 100 mg. The aim is to eliminate that one. I have never observed any benefit from it; only gave it due to pressure from another neurologist and will be pleased to have it in our rear view mirror. 

And here's another "finally": a response from one dignitary who visited Aleh. 

Predictably, it was disappointing and wishy washy. To wit:

"I agree with you that every child deserves the best care possible. Ideally this would be provided at home by the people closest to the child like you describe. Yet, I have visited ALEH’s facility in Jerusalem and learned that many of the children ALEH cares for have severe and very complex medical conditions, where such quality care in a home-environment is sometimes very difficult or almost impossible to realize. I have met very committed and professional caretakers and loving families."

Stay tuned for my response to him.

My Monday

My Monday was largely devoted this week to my daughter Haya and her disabilities.

First was a morning tele-visit with her newest neurologist. We had consulted him a couple of times some fifteen years ago but haven't had contact since. Now we have returned to him primarily because of his expertise in medicinal cannabis. He joins our list of the 20 or so neurologists already consulted for Haya throughout her life. 

But the upshot of Monday's consult with him was to leave our cannabis dose as-is and weigh other treatment changes. Our quest for the elusive epilepsy control continues.

These are the three options the doctor served up:

• Replace Vimpat with a new drug, Fycompa (generic name: perampanel)
• Give the Ketogenic Diet a second shot. We tried it for about 10 months when Haya was about four years old and failed
• VNS surgery which would involve removal of the old one implanted in 1999 and non-functional for most years since then, and implantation of a new, improved version.

We intend to first try Fycompa which has the least hope of success given the many drug failures that Haya has already chalked up. So we've already submitted the requisite Form 29 Gimel to our health fund to receive authorization of "private importation of a drug that isn't registered in Israel". 

It was approved by the FDA in October 2012 but somehow remains in that category in Israel. 

Simultaneously, we'll pursue the Ketogenic Diet and the VNS surgery, both of which will take a while to arrange. Both offer more hope than medications.

The second event yesterday involving Haya was a Zoom session with a half dozen other parents of children who have the SCN2 mutation. It was organized by Dr. Anne Berg who is researching treatments for SCN2A patients. She wanted to speak to parents in advance of upcoming clinical drug trials. 

At Aleh during Sukkot, extremely vulnerable but maskless children

It was interesting to hear from parents around the globe, and I mean that literally: a father in India, a mother in Dubai (she actually splits her time between Dubai and Spain), and mothers from various States in the US including Pennsylvania.

Here is some background info about our group which has 670 members. The mother speaking on this clip, Leah Schust Myers (in the screenshot at the top of this post), is the one who organized yesterday's Zoom encounter:

And while the devotion and determination of the SCN2A parents I met was impressive, the ongoing institutionalization of Israel's children with disabilities is very UNimpressive. 

Our Ministry of Welfare remains mum about where the victims of Covid-19 with disabilities residing in their institutions lived, although their deadline to answer me under the Freedom of Information Act passed four days ago. They've now had over two months to provide me - and by that I mean "the public" - with that easily attainable information.

And here [Facebook link] is Aleh broadcasting to the public how very high risk its residents are for becoming seriously ill with Covid-19. 

They've posted this on their Facebook page:

Uzi and the oxygen balloons at Aleh

"Here in Aleh:
There's a program for life-saving respiratory therapy. Most Aleh residents suffer from respiratory compllications, breathing difficulties which often cause pneumonia and hospitalization.
Consequently, the respiratory therapy program of Aleh offers respiratory therapy personally adapted to the residents. The therapy includes the use of equipment and sophisticated devices that clear the lungs and intensify breathing. 
Breathing activation several times a day is incorporated into all daily activities. This photo shows Uzi bringing more oxygen balloons for reinforcement at Aleh."

And that's Aleh's Uzi and the oxygen balloons in the photo above.

Nevertheless, Aleh's high risk residents continue to be housed and placed in close contact to one another and without masks. See the photo above from their Facebook page showing extremely vulnerable - but maskless - children seated close together under a large umbrella being waved by the attendants, "celebrating" Sukkot.

Why???

Life with the SCN2A mutation

Image Source: Extracted from
this brochure

We had barely adjusted to the new reality of a firm diagnosis for our daughter Haya when the "awareness day" of her syndrome popped up.

February 24th was SCN2A International Awareness Day. I suppose its general significance lies in increased fundraising efforts which will enable new research successes. There still seems to be precious little knowledge about how to treat this horrible condition.

Note: I've seen it called "a catastrophic life-altering diagnosis" and I couldn't agree more.

Haya's refractory epilepsy continues to oppress her and us just as it has since it began 23 years ago.

But having a name for Haya's symptoms has nonetheless brought changes, albeit marginal.

For one, I have less hope that she will ever improve, even minimally.

I mean, for now there's no way to fight those mutated genes inhabiting her body. Perhaps one day medicine will discover some gene- altering treatment. But nobody is talking about anything like that at this stage.

There is, however, a thin silver lining, namely the relief we feel about our other children's genes.

While every one of their previous pregnancies filled me with anxiety, even dread, I'm now a tad more relaxed and stick to the standard pregnancy concerns.

We are still at a loss as to which new drug to try out in our quest for a modicum of relief from Haya's seizures.

The neurologist we thought would help us has gone AWOL and while she is very senior and experienced, she conceded that she has no other SCN2A patients.

Despite a concerted effort, we have failed to locate any parents of SCN2A children here in Israel who might be able to suggest a local doctor familiar with this mutation.

So, if you are in that category or know someone who is, please contact me here or at frimet.roth@gmail.com

Meanwhile, Haya now works with two switches (see image on the right). She decides which hand to use.

A big step forward for her.

Welcome to my SCN2A world

From a 2017 overview about the current knowledge
of SCN2A disorders, presented by Dennis Lal
of the Stanley Center for Psychiatric Research at the
Broad Institute of Harvard and MIT [via YouTube]

After a hectic period laden with stressful but (thank G-d) joyous events, I can finally refocus on this blog. 

First, to recap.

We now have a pretty firm diagnosis for Haya's symptoms after a 24 year hunt. 

While it is a de novo mutation of the SCN2A gene i.e. not hereditary (yay!), it has been an otherwise distressing discovery. That's because there is simply no effective treatment for it. 

The mutation causes a particularly severe and refractory epilepsy: Epileptic Encephalopathy Early Onset 11. It's sometimes called Early Infantile Epileptic Encephalopathy Type 11, and sometimes EIEE11.

Available anti-epileptic drugs are almost invariably useless, something we'd already concluded on our own after Haya's 24 years of relentless seizing.

Nonetheless, last month we brought Haya to a pediatric neurologist whom our geneticist had recommended highly. (She's booked up for the next year).

At that visit, she assured us she would study Haya's EEG's and her history and would then suggest medication changes as a first step. True, after the years of the med failures we've had, any new ones have no more than a 3% chance of success - but that isn't zero, as the doctor noted. 

So we all agreed it's the wisest first step.

Next, if we find Haya to be in the 97% majority med-wise, this doctor recommended we re-try the Ketogenic Diet. We had Haya on that diet some twenty years ago with minimal success and dropped it after 10 months because of serious, uncontrollable vomiting. 

 
But, as the doctor noted, we had had no professional guidance in calibrating the diet. So giving it a second shot with good medical intervention this time sounds wise.

If that diet fails again, she recommends going with a second VNS implantation. 

That was also a failure back in 2000 and we were bereft of sound medical guidance then too. So while I'm reluctant to subject Haya to surgery but if there's no alternative, we'll try it.

I also set up a Google Alert for the SCN2A gene and Epileptic Encephalopathy Early Onset 11. Not one of the journal articles I've been sent so far are relevant or helpful. Most weren't even about that gene! Are you listening Dr. Google?

Now a request.

The new neurologist, when I asked her, said she has no other patients with this syndrome. Our Haya, I think, may well enjoy the distinction of being the only such person in Israel.

If you know of anybody afflicted with it, please let me know. I will give you my personal details if requested in a blog comment.

Welcome to "quality" special education in Jerusalem

I gave a "tremp" yesterday to a woman I recognized from my daughter Chaya's "alma mater".

Of course, I grabbed the opportunity to inquire about the state of the school since C.'s graduation. It had switched, at that time, from the province of an amuta to that of the Ministry of Education. I was curious about the impact that transfer had had. 

The woman couldn't stop gushing about the change. When I asked for details, she noted "various benefits and gifts to the staff" including a reduction in work days from six to 5 per week for teacher's aides, which she is. 

All in all, she concluded, "things are great". 

Then I asked her what the administrative switch had done for the children. Were they receiving more therapies, for instance? (While Chaya attended, the number of therapies per week was piddling. At best, one half hour session per week of physio, occupational, speech therapy and hydrotherapy.)

But rarely if ever did all those eventuate. Therapists would be out for myriad reasons and staff meetings were always held during therapy hours. 

"No", she replied, unhesitatingly. "They receive fewer therapies. 

"But everybody seems pleased," she added. "I haven't heard any parents complaining". 

I choked... This woman was praising the new administration despite its harm to the children. And those children are entrusted to her care. 

Not very reassuring, to put it mildly.

PS We didn't manage to get to the neurologist this week as we had intended. But for now we aren't feeling the urgency.  Chaya has grown weary of that mysterious vomiting and has even cut back on her central fevers. My husband plans to meet the neurologist next week to discuss strategies for reducing seizures, He'll go without Chaya since she's been thoroughly examined by the pediatrician just last week. Yeah, I know, we never seem to give up the fight.