SCN2A is a sodium ion channel gene located on chromosome 2. It encodes the alpha subunit of the voltage-gated sodium channels (Nav1.2) mainly located in the brain. These channels play an essential role in a cell’s ability to generate and transmit electrical signals. A change in the gene can alter the function of the channel and affect the way neuronal impulses are conducted.
I thought a med update for Haya would be appropriate, so here goes.
She has been entirely off Keppra for nearly one week. She had been receiving 1,500 mg of it twice/day for several years.
Her neurologist's instructions were to reduce her dosage by 250 mg. every 2 weeks. She admitted the move was a shot in the dark - just "something to try". But since it's known that epileptics can become inured to drugs after taking them for long periods, I embraced it.
One less med sounded appealing.
I adhered to the weaning regimen, more or less, at times extending the two weeks by a few days. But I weaned her off the last 250 mg much more slowly.
First I removed the nighttime 250 mg. and then two weeks later, removed the morning 250 mg.
Whew. It was a huge relief to see no repercussions.
The last med we weaned her off successfully was cannabis But about two years before that we made an attempt at removing Vimpat. It triggered status epilepticus and a hospitalization.
So for now, Haya is only two anti-epileptics: Fycompa and Vimpat. Quite an achievement!
The new med
Here she is (above, right) having her first hydro session minus Keppra:
And while I'm aware of that birthday promise I made to opt for realism over optimism, I can't help hoping that deleting Keppra will bring some minor improvement. Not fussy about that - any shred of heightened functioning would do us.
Alongside the Keppra weaning we've introduced the new drug that the neurologist recommended to treat her kidney stones. It's Urocit-K and she gets one pill 3 times/day.
If those stones were painful, and I understand they tend to be, then I hope Haya is enjoying some relief already.
I found this post (above) on my Facebook feed and was struck by the resemblance of this photo to her.
Oops, it is her.
I had momentarily forgotten that I submitted her photo to the Families SCN2A Foundation Facebook group some months ago.
While I am aware that there is no improvement down the road for Haya, I wish her, at the very least, a year of stability free of crises and of hospitalizations.
I'm sharing a couple of nice, fresh images of my daughter Haya performing two physical feats: assisted walking and floating on her back.
This clip show Haya during a very recent hydrotherapy session:
And here she's doing her daily assisted walking;
What's confounding us is that the same week they were recorded, we received the results of her first-ever kidney ultrasound. Neither her neurologist or GP has so far responded to our request for feedback. But to our untrained minds the findings look worrying.
While her right kidney is in great shape, her left one sports the following pathologies:
a 0.6 cm kidney stone
several parapelvic cysts
a compressed pelvis (אגן גדוש).
For now, we're distracted by the hectic preparations for Passover. But it would be nice to know whether any of the above requires intervention.
Unlike our doctors, Google has been accessible and informed us that a stone of that size is deemed "large" and that those cysts, while probably not life-threatening, may or may not require treatment.
Hoping everyone has a פסח שמח! A truly joyous Passover to all who celebrate it.
Some thoughts below about a recent post on the Facebook page of the FamilieSCN2A Foundation - an online support group for parents of children with that genetic mutation. It's the one my daughter Haya has.
Members of the group come from all over: Argentina, Australia, Austria, Belgium, Brazil, Canada, Chile, China, Colombia, Czechia, Denmark, Finland, France, Germany, Greece, Iceland, India, Ireland, Israel, Italy, Luxembourg, Malaysia, Netherlands, Norway, Poland, Portugal, Scotland, Serbia, Spain, Sweden, Turkey, UK, USA, United Arab Emirates, Venezuela. And probably more.
It was written by Carla Forbes, one of the group's administrators, and is about the FamilieSCN2A logo and the colors that feature so prominently.
This is what the SCN2A support group is all about and this is why the following recent post there grabbed my attention.
First, to clarify: I only peruse the page occasionally. The posts aren't usually relevant to me as most of the children are both younger and higher functioning than Haya. Hence many of the posts just depress me.
But all convey the sense that these parents are utterly devoted to their children and determined to provide them with every available therapy and treatment to improve the quality of their lives.
Then this week, while I was up in the wee hours caring for Haya, I read the post I mentioned. It was exceptional, jarring and disappointing - to me at least:
Well... we found a host family in Houston (a hour and 45 mins from us) that is interested in having Alyssa live with them full time. We meet them Saturday. This is the hardest and loneliest decision we have ever made. No one gets it and not many have gone down this road..... its a hard road y'all. Praying this is the right fit but if not, we will keep looking.
Several readers offered supportive comments and another few "liked" it. I thought a loud "ouch" to myself.
But then I noted that neither of the site's administrators responded, as they usually do. Their silence seemed telling. This page was obviously not the right venue for news of this sort.
Here below is my daughter Haya at her latest Monday Hydro with Mom session.
Next week the pool will be closed for repairs. So we will be relegated to the large, cold public pool nearby.
Why have I not bought myself a wetsuit like Haya's yet?!
My daughter Haya awaits the start of Yom Kippur 5783.
To everyone from all of us. May this be a year of good health and joy, a targeted treatment for SCN2A, and the advent of de-institutionalization and in-community living for all citizens!
(I prepared this for posting on Tuesday, the eve of Yom Kippur, but didn't manage to do so before sundown.)
Over the past two years I've accumulated what is undoubtedly an impressive collection of button-push-toys. Each produces a wide range of animal calls, musical scores, automobile and instrumental sounds.
Some even light up - an irrelevant perk for us, of course, with Haya cortically blind.
A few were inexpensive, others not so. But none has suited Haya and they have been relegated to the grandchildren's toy collection.
A few were inexpensive, others not so. But none has suited Haya and they have all been relegated to the grandchildren's toy collection.
So I have continued hunting for the ideal one.
Here below is my latest acquisition which cost me a whopping 20 shekels, about US $6. (Well, that's without batteries, but still rates as a bargain IMHO).
Haya has been working on reaching for the buttons and pressing them to trigger a sound.
As the video clip shows, Haya's rather adept at stretching out her fingers but pressing down is often still a challenge.
I wrote (but didn't post) the following two weeks ago:
As my kids say, "bummer". I had a positive result on my at-home Covid rapid antigen test last night. I administered it because of fever and a cold. Now, I am a scrupulous mask wearer, a Covid recoverer, had two vaccines, scored 2,000 + on a serological antibodies test four months ago and have, to my family's chagrin, grown extremely anti-social during the last two years.
So, we're stumped as to where and how I caught this.
On the off chance that this is a false positive, I will go do a PCR test this evening.
I am particularly disappointed because the pool to which we bring Haya for hydro has been broken all week. It only recovered and reached the desired 32 degrees Celsius (about 90 Fahrenheit) this morning. I did a lot of Whatsapping to land a cancellation of one hour by one of the teachers for this morning.
So Haya will miss her hydro this week. As I have often noted: It's the highlight of her life...
Haya, in a recent drawing of mine
Since then, Haya has thankfully had two magnificent sessions of hydro. The second one was this past Sunday which we did in 30 degree (Celsius) water, instead of the usual 32 degrees. With her wetsuit on, Haya appeared as comfortable as usual. But I really missed those extra two degrees.
All the Whatsapp groups I'm in for people with disabilities and their families have been abuzz with talk of forming inspection groups. Clearly, the recent uptick in accounts of abuse in institutions here in Israel triggered that.
The idea is for those groups of volunteers to visit unannounced Israel's institutions for people with disabilities. I just volunteered for the Jerusalem area. Hopefully we will visit ADI Jerusalem and uncover whatever there is to uncover.
This time we won't be accompanied by politicians as we were the last time such visits were made ["Notes from an Aleh visit"].
My "partner" back then in 2018 was Knesset member and now Israel's Minister of Diaspora Affairs, Dr Nachman Shai, who in my opinion was utterly deceived by our guide's slick spiel. Sadly, Shai's reactions were confined to unadulterated praise.
While the discovery of a genetic mutation in your child surely sounds disastrous, for us, it was strangely, welcome news.
That's because our Haya's mutation was found to be de novo; in other words, it wasn't hereditary. My husband and I didn't give it to her - and we didn't pass it to our other children.
That knowledge, which came to us only a few years ago, was a huge relief for us all.
Naturally our children's pregnancies still generate the worry that pregnancies tend to. But we are largely exempted from the additional fear that a baby might have Haya's syndrome.
But like most other SCN2A families, we hope for a cure. Or at least more targeted treatments for people with this mutation.
We are tired of piling on meds that may or not help, of groping in the dark. We wish Haya's current neurologists were not as baffled and stumped as those we consulted over two decades ago.
Here's hoping progress in the SCN2A world will be made while Haya can still benefit from it.
There have been contrasting developments on two fronts.
On the personal front:
Haya appears to be deteriorating, judging by her performance during the assisted walking I do with her each night. For the past week, she starts either seizing or trembling after about 15 minutes of walking. It happens regardless of how calm she is at the start of the walk.
It's very disheartening, to put it mildly.
At least her floating hasn't been affected. On Monday, she had an impressive hydro session, floating calmly from the moment she entered the water:
On the public front:
The last two weeks have seen both shocking and encouraging eventualities affecting the community of disability activists. The two tend to come together. That's because the sad reality is this: without news of outrageous abuse and neglect, there is no progress in the living conditions of people with disabilities.
On Saturday night February 19, 2022, Israel's KAN TV station aired this report:.
The defensive reactions of the institutions and of the responsible government ministries are no less infuriating than the conduct of the violent, sadistic caregivers.
It's in Hebrew, so for those who can't follow, my summary notes from the Hebrew source:
Excerpts from the KAN clip "Camp of Oppression":
A father of a former resident in an institution: "My son has mild cognitive impairment and OCD. He is skilled in computers, multi- lingual, We were looking for a setting; we wanted him to have outings, parties - his own social group."
The son: "Excuse me for interrupting, and they also hit autistics a lot. They hit. And it isn't appropriate for me there. And I had marks on my body from all the hitting." He also relates that doors are always locked behind them. "What's that about?" he asks.
A brother of a resident relates his experiences: "Every sort of violence you can describe that can possibly be. It's crazy. It's prison violence. You see cuts, you see stitches, you see crazy things...I don't like the word institution. That's a euphemism for a camp of oppression."
Narrator: "All of the residents interviewed had lived in a succession of institutions and in various parts of the country over years and recounted a similar picture in all of them."
A former staff member, called Maya - but who conceals her true identity - relates: "I didn't only see one or two caregivers but rather a staff - wide atmosphere of animalism. "Go! Come here" Really like animals. They would mimic them in front of them. Tempt them with things and then not give them. I remember employees who would push really hard just to get them to move forward. They spoke to them in shouts. In my view, this pained me as a caregiver much more than the violence you hear happened once in a few months because this happens and it is clear that it happens. We had a volunteer who fed a resident her vomit from her plate because he had been instructed that she must eat...We had one resident who had outbursts, she was challenging, Several careers did find a common language with her and knew how to calm her down. She then got stuck with a violent shift worker who simply beat her to shreds.'
Narrator: "It's important to note that she doesn't say all the workers she met are bad or violent but not only about an isolated incident or specific staff members were involved. it is testimony about several institutions she worked in over years. conduct she encountered in several different institutions and over years."
The father of the adult resident later related: "When I told the institution in which my son lived that I want to bring him back home, the director threatened to bring me to court and have my guardianship status rescinded."
Naama Lerner of the grass roots organization, The Movement for Independence, explained that "Since the advent of privatization, operators of institutions receive between 13,000-20,000 shekels/month per resident and are thus highly motivated to retain them. They hire one carer for ten residents so they spend less than 1,000 shekels/month per resident."
On Thursday evening, February 17, 2022, people with disabilities, their families and activists demonstrated:
"And the Land Shouted"
Come join us to protest against the abandonment of our children, people with disabilities and cognitive disabilities, people with autism. #See them
We are shouting on behalf of those who cannot
On Saturday night, February 19, 2022, Naama Lerner of the newly formed grass-roots organization "The Movement for Independence" gave a Zoom presentation about de-institutionalization and life within the community for people with disabilities.
It was very informative and forthright. Naama explained why life behind locked doors in large institutions is an invitation to abusive behavior towards residents.
Several points she made:
When residents live in an apartment surrounded by neighbors, it is likely that signs of abuse and neglect will be noticed and reported. When those residents leave their home every day for various other settings - workplace, therapy sessions, shopping expeditions, chugim - they will be observed by myriad people who are not connected to their institution. They will not hesitate to report anything that appears concerning.
On the other hand, when all activities and services take place in one large, locked secluded setting, there are no outsiders who might notice disturbing signs. Institutions always defend the seclusion and locking up of residents as being "for their protection".
Naama debunked that claim thoroughly.
The Kan segment included an interview with a former employee at one institution who spoke incredibly openly. She described the atmosphere of debasement/abuse that pervaded the setting. Charges, she stated, were viewed as sub-human. With incredible forthrightness, she described how she herself was gradually infected with that attitude.
Today, I signed on to the Lobby for the Advancement of Equal Opportunities for People with Disabilities on the topic of The Improvement of Conditions in Hostels and the Expansion of Independent Living for People with Disabilities. It is scheduled for February 28, 2022.
We have learned of yet another instance of abuse against a person with disabilities living in an institution. Once again, it has received no media coverage and laconic police attention.
The victim's mother reported to the police that upon visiting her son the day after the alleged attack, he had a broken elbow, blue marks, and hemorrhaging on his face and in his eye. The employee "simply beat him up with blows".
It is truly incomprehensible that Israel remains stuck in its backward attitudes toward institutionalization. Doling out mass cash gifts, for instance, to institutions as it just did several weeks ago. And it did so despite the outcry of Bizchut, the Israeli organization dedicated to defending the human rights of people with disabilities.
In its end-of-year report, Bizchut summarized [see my unofficial translation into English that follows] that now infamous cabinet meeting which authorized the handover of millions of shekels to ADI Negev, the large, closed and isolated institution founded and headed by Major General (Res.) Doron Almog - the darling of Israel's elite and powerful.
No to Funding for Institutions!
Our first initiative relates to Adi Negev, an institution in the Negev where 150 people with disabilities reside.
A month ago we learned that in a closed meeting the government will decide whether or not to allot millions of shekels to its development.
We do not have and never have had anything specific against Adi Negev, only against the very idea of institutions.
When people with disabilities live, work and receive services in one place which is designated for them alone - they are isolated/cut off from the community outside, which deepens their separation from the society. This harms equality. This harms their quality of life. In such a place, they have no control over the most basic decisions in life.
The State of Israel understood this as well when in 2012 it ratified the international Convention for the Rights of Persons with Disabilities which, according to its official interpretation by the United Nations, orders the closure of all institutions.
We Received Word of the Government Meeting only 24 Hours Beforehand and We Understood We Had to Act Immediately
In no time (from one day to the next) we embarked on a campaign which called on ministers to oppose reaching a decision without first holding a communal, transparent, open debate, with the participation of people with disabilities in line with the principle of "Nothing about us without us", which views people with disabilities as an inseparable part of the decision making process.
We said that it cannot be that the State will allocate millions of shekels to a policy that affects people with disabilities - without hearing them and their representative organizations. We also said that in light of the Convention and in light of the demand that arises on the ground - from people with disabilities and from their families - it is impossible to allocate millions of shekels to institutions. The budget must be allocated toward the development of responses within the community.
700 emails calling for in community living were sent
True, the government ultimately decided to approve the budget increase of several millions of shekels to expand ADI Negev. But we are not discouraged. We will continue to fight with all our strength to advance the right of every person to live within the community.
One of our goals this year is to anchor in legislation the right to autonomous life in the community with personal aid.
We will be sharing further details soon.
I'm glad that Bizchut is not discouraged.
But as I wrote in an earlier post [Actually, zero steps forward, January 3, 2022], the failure of our protests to prevent that cash gift of millions of shekels to ADI Negev, truly demoralized me.
Our Haya decided to give Covid a second crack. So, while she kept it low key - mild symptoms, a cold, low fever - we abided by the quarantining rules. Her carer and I tested ourselves at home every day before going out and Arnold didn't go near Haya during the duration.
So this week I am sparing all of you those hydrotherapy photos I love to post because Haya missed her session that Covid-week. And then missed it again this week due to a pool malfunction.
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 epilepticusthe 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!
I am sorry to concede that I learned about July being Disability Pride Month from none other than ADI's Facebook page.
Actually - and ADI omitted this point - it is recognized as such only in New York City where Mayor Bill de Blasio declared it in honor of the 25th anniversary of the Americans With Disabilities Act (ADA). Parades are held in a number of American cities including Los Angeles, New York City, San Francisco and San Antonio.
New York City is hosting a parade to commemorate the landmark legislation and as a born-and-bred New Yorker I'll jump on that bandwagon.
While ADI did disseminate this helpful information, it is also hard at work entrenching the institutionalization of babies, children and adults with disabilities in large, locked structures far from the rest of society.
So, you do the math. I'd say this mention of July doesn't clear them even one iota. In fact, this month is being touted thus:
"....not only a time for the disabled community to celebrate who they are, but it's also a time to better understand how you can become a better ally to our disabled community members."
And I will attempt to do just that.
Several days ago, advocates for disability rights in Israel learned that a former caregiver, Ali Akaria, who worked in Ramat Haifa, an institution for people with disabilities was sentenced to nine months of community service after he was convicted of attacking Ephraim Ben Baruch.
The latter, a helpless 27 year old resident in Ramat Haifa with cognitive and behavioral impairments, endured repeated abuse there by other caregivers which, it is suspected, caused his eventual death in 2019.
In his judgement against Akaria, Judge Zair Falach wrote that the defendant asked for the court's mercy and he responded:
"If the defendant had behaved with mercy toward his charge he would not find himself being judged before me. The defendant's request for mercy is an infuriating request when the defendant himself behaved with an absence of mercy toward the deceased charge."
A propos "infuriating", the fact that the judge's ire translated into several months of community service has had that same effect on the disability activist community. That slap on the wrist has galvanized them to redouble their fight for an end to institutionalization. Protest rallies, petitions, PR campaigns and lawsuits are all being weighed as the next step toward that goal.
Parents and siblings constantly share their desperation to transfer their loved ones to in-community living in small hostels.
Pull out your magnifying glass to see what has us very excited: My daughter Haya is kicking a bit!
In Israel this isn't an option for most. As one of them noted:
"...within the system of checks and balances that exists when residents go out to activities and live in the community among neighbors, leave their homes, a case of ongoing abuse would be exposed. The institution of Ramat Haifa - like Neve ha-Irus which we recently experienced - is an isolated island where anything can happen. Going out into the community ensures the safety of residents while the Ministry argues that an institution is the most protected place."
Somebody in that Whatsapp group posted an invitation to an ADI-sponsored Zoom event for parents of children with disabilities. Shocked and dismayed to see them ensnared in another ADI trap, I reminded them what the ADI enterprise is really about. You can help spread the word too! This is the month for you to help spread the message.
I always open the Facebook page of ADI (previously known as Aleh) with the dread that I will see photos of yet another prominent influencer visiting its very well-appointed facilities. Those images would naturally be accompanied by some adulatory speech delivered to the place's founder and CEO, Doron Almog.
ADI staff members and volunteers... are fully dedicated to every child and young adult and possess the wonderful gift of being able to see the hope and the ability within every disability. We are so grateful to ADI for their incredible work and wonderful partnership! [Archive link]
The culprit this time was Prof. Ofer Merin, director general of Shaare Zedek Medical Center Jerusalem. His 'offense' against people with disabilities was committed earlier this week.
It is always infuriating when medical professionals in particular laud ADI for violating the rights of people with disabilities by isolating them from the community, locking them up in a large, closed institution.
Here's what I want to say to them every time I see such a thing:
I mean, really, what did you learn in medical school??? Are you that clueless about experts' views of institutionalization and the damage it wreaks?
Advocates for the human rights of people with disabilities fervently hope that once our new government unveils its position regarding institutionalization and pursues it, Professor Merin will prove to be but an anomaly.
The new Minister of Welfare, Yesh Atid's Meir Cohen, an educator, a former two-term mayor of the southern city of Dimona and previously a Minister of Welfare between 2013-2014 has yet to address activists' demands for the transfer of those locked in institutions to in-community living in small group homes or with their families.
Haya at home this week
He will face a challenging job finally propelling Israel's citizens with disabilities into the 21st century..
And while he's at it, he might see to re-educating all of Israel's "Professor Merins"!
Back here at hone, we are persevering with the Ketogenic Diet and still praying that the decrease in seizures will deliver an improvement in Haya's functioning. So far, no sign of that.
The dietician promised to raise the carbohydrate component of our recipes to attempt to energize Haya. But she (the dietician) is away sick this week so the new recipes haven't arrived yet.
I have bought another toy to practice pressing on buttons and eliciting sounds and music. At this stage, we need to press Haya's fingers for her. My dream is that she'll learn to do it herself - really quite modest as dreams go, don't you agree?
So, maybe one day?
I haven't resumed her speech therapy sessions yet though our health fund (kupat holim in Hebrew) did agree to subsidize 12 of them.
At this stage, I am simply not confident Haya will be responsive enough to make it worthwhile.
I belong to two SCN2A WhatsApp groups. One is global, the other is Israeli. The latter is a cozy one of about eight mothers. Their children are all babies - primary school age. None is nearly as severely affected as Haya. (And one of them has four genetic mutations besides SCN2A!)
Occasionally, mothers post clips of their children achieving milestones and we all text our congratulations to them. But, to be honest, those exchanges cause me a tinge of pain and loneliness. Haya is in a league of disability all her own within this group. She just doesn't do milestones.
Yesterday, however, we all bonded beautifully over a group achievement.
I had attended a Zoom gathering of the global support group two weeks ago where I mentioned that Israeli parents were not included in a certain survey which was limited to families in the US, Canada and Northern Ireland.
The moderator, Carla Forbes, suggested that if all the Israeli parents would send in the request to be included then at some point in the future the global organization might amend their policy. She sent me the link for that request which I posted to our local Whatsapp group.
Most of the eight Israeli mothers immediately submitted the request.
And then, I kid you not, manna fell from the skies. We all received an email notifying us that due to the "tremendous" response from Israel, the policy would be changed and we would be included. It said we will receive dates/times for our hour long phone interviews in the near future.
For an organizer, this is probably small potatoes. But I have never organized anything let alone something of such import. So I'm left feeling amazed, thankful and grateful to Carla Forbes, who urged me on. I hope that the years of experience we have had with SCN2A through Haya will provide helpful information via this survey.
By the way, all of the parents of SCN2A children whom I have encountered in both support groups are raising their offspring at home!
And to add to that segue, here's the latest influencer who has joined the ranks of Doron Almog's admirers.
As posted on the ADI Facebook page, Professor Dr. Yaniv Sherer, CEO of Barzilai Medical Center hosted Almog. Like the many officials who have preceded him - here's my list - he lavished fulsome praise on the CEO of ADI:
“Today, I had the honor and privilege of hosting at the Barzilai Medical Center a man who is a legend, both as one of the greatest IDF combatants of this generation and as a civilian activist. Major General (Res.) Doron Almog, the Founder and Chairman of ADI Negev-Nahalat Eran and an Israel Prize laureate, has transformed one man’s vision into a movement that is shaping the reality of an entire country and society, changing its attitude toward the most vulnerable among us, and spotlighting the idea that ‘𝘁𝗵𝗲 𝘀𝘁𝗿𝗲𝗻𝗴𝘁𝗵 𝗼𝗳 𝘁𝗵𝗲 𝗵𝘂𝗺𝗮𝗻 𝗰𝗵𝗮𝗶𝗻 𝗶𝘀 𝗼𝗻𝗹𝘆 𝗮𝘀 𝘀𝘁𝗿𝗼𝗻𝗴 𝗮𝘀 𝗶𝘁𝘀 𝘄𝗲𝗮𝗸𝗲𝘀𝘁 𝗹𝗶𝗻𝗸.’ The village he founded is a beacon of love, rehabilitation and kindness to its residents with severe disabilities, outpatients and visitors from across Israel and around the world. We are so grateful to Doron for his informative lecture and enlightening conversation with our Barlizali team."
Unlike the politicians whom he is parroting, Professor Dr. Sherer is surely well aware that Almog is operating large, closed institutions for people with disabilities, isolated from the rest of society and now nearly extinct in the rest of the developed world. He ought to know better.
I suppose it's time for an update on Haya's Keto diet and her epilepsy. I've procrastinated because there has been nothing good to report.
But today is Haya's birthday so the timing feels right.
We did finally achieve a ketone level which satisfied our dietician. But it wasn't accompanied by the greater seizure control we've been hoping for. She's still having around four big ones daily. She's also been having around an hour's worth of twitching every day. I've begun giving her Paracetamol to zap that.
I sent a video clip of the twitches to the neurologist who responded that the Keto diet is ineffective against that symptom. And we may just be stuck with those four or so seizures every day.
What is more disappointing, though, is that Haya hasn't shown any improvement in her functioning at all, despite the drop in seizure activity.
Worse, her walking has even deteriorated. Her stamina for it has diminished and since we can't have her feed herself Keto meals lest she drop or drip precious grams of the stuff, she's left doing nearly nil.
Fortunately, she still floats and flips in the pool as well as she used to. But she used to kick occasionally and that's disappeared.
I've even put her Speech Pathology sessions on hold because they would probably be a waste of time and money. After two months of foot dragging, our health fund (the kupat holim of which we are members) finally decided on awarding us twelve sessions at NIS 123 participation per session. That means they are covering roughing half the cost.
For now I'm just persevering with Haya's walking. I even did it twice yesterday.
Eventually, we'll need to reassess the diet and decide whether it's really worth all the effort.
Along with this bleak reality came the following article [online here] via my Google Alert. It hails from "New paradigms for the treatment of pediatric monogenic epilepsies: Progressing toward precision medicine" by Nicola Specchio, Nicola Pietrafusa, Emilio Perucca and J Helen Cross. And published in the latest edition of "Epilepsy and Behavior"
And is it ever blunt and bleak.
It's laden with equally stark statistics about seizure control in children with developmental and epileptic encephalopathies (DEEs) which is what Haya has been "blessed" with.
Here's its opening paragraph:
"The past 30 years have seen the introduction... of over 20 second-generation antiseizure medications (ASMs). Despite this enlarged pharmacological armamentarium, seizures in about one-third of people with epilepsy cannot be completely controlled and outcomes are even poorer for certain syndromes, such as developmental and epileptic encephalopathies (DEEs)"
That's what Haya is "blessed" with.
"One possible reason... is that the large majority of currently available ASMs have been developed with the aim of suppressing symptoms (seizures), and were not designed to address the specific etiologies and mechanisms responsible..."
It goes on
"Treatment responses in SCN2A-related epilepsies appear to be more complex... for children with later-onset epilepsies [like Haya] sodium-channel blockers were rarely effective and at times even worsened seizures... patients with later-onset epilepsies [again, that's Haya] had truncating mutations, which were associated with lack of seizure improvement after administration of sodium-channel blocking ASMs."
And
"For most of the severe DEEs... the overall prognosis... remains poor in terms of seizure control, intellectual disability, and other comorbidities."
There's even a chart which makes that bad news perfectly clear: For Scn2a Loss of Function Mutations in Nav.1.2 ASD/ID and Childhood-onset seizures, the chart bluntly says
"We Do Not Currently Have Targeted Precision Treatments."
But hang on.
I may be stretching it but I believe I see a silver lining: It means that Haya's awful predicament probably isn't due to our having missed something. My husband and I aren't to blame.
Given the awful hand she's been dealt this is "As Good As It Gets". I know, I know, that's a small comfort - but a comfort nonetheless.
We finally found online and purchased those elusive keto sticks I wrote about two weeks ago [Update: Meals and therapies]. They enabled us to check Haya's ketone level in her blood. As she is in nappies, the locally and readily available urine test strips were not an option.
While our health fund practically donates the device itself for 20 shekels, it doesn't stock the blood ketone test strips in any of its pharmacies. Nor does any other of its pharmacies!
(Note: Please advise me if you know of an in-Israel supplier. The strips we bought currently cost us 20 shekels for every test.)
Here is Haya being tested:
So far she has had ketone levels of: 5.2, 1.2 and 1.9. Those results were each 5 days apart.
We're hoping to raise her ketones to her first result as she's still having strong seizures a few times a day.
But here she is yesterday at hydrotherapy with her arms more relaxed than usual after I have massaged and opened them.
And here I am demonstrating via a self-portrait what the awful combo of Covid-19 pandemic and preparing keto diet meals can wreak on one's appearance.
True, we can't be sure that it's helping Haya as we simultaneously resumed her full dose of Vimpat from which we had weaned her.
Of course, two changes at once is a cardinal sin when treating epilepsy. But since Haya was in a grave crisis only two weeks ago, we agreed with her doctor that every gun in the arsenal should be utilized at once.
We still haven't succeeded in getting the ketone blood test strips that match the device we purchased (photo right). They're due to arrive in a few days. Then when we've ascertained whether or not Haya is in ketosis, we'll be better able to assess its efficacy.
For now, I can only say, it's a time-consuming and exhausting diet to administer.
This diet has also denied Haya the opportunity to feed herself which she had been doing so nicely for years. Every drop of every pre-weighed Keto meal must reach her gullet. When she fed herself, some of the food dripped or fell.
So for the time being, self-feeding is banned on dietician's orders.
Here below is a photo of an actual keto meal I prepared for Haya:
We managed to bring Haya to hydrotherapy again this week. Here she is executing one of her skillful flips.
She shuts her mouth tight beforehand and instantly gives her head a 360 while I flip her body. When you consider that she does almost nothing else independently, you have to agree it's quite a feat.
We've suspended the weekly speech pathology sessions which weren't feasible while she was seizing uncontrollably. Now we're also waiting for our Health Fund to respond to our request for subsidization of those therapies. Until 2021 we were included in a pilot project operated and funded by the JDC for two years. That project has now excluded children from Jerusalem for some unknown reason.
Which brings us back to the infuriating conundrum of care for children with disabilities who are institutionalized. It's almost entirely funded by the government. In contrast, when children with disabilities live where they deserve to - at home with loving parents - the government largely abandons them. I hasten to clarify that: the Israeli government abandons them. This isn't the case in other Western countries.
And so institutions like Aleh/ADI continue to pocket lavish public funding. Of course, that's along with generous private donations they savvily solicit. These days, according to ADI's Facebook page, American Christians are also being duped into donating. Just bandy about those vital words "inclusion" or "diversity" and you've won the respect of your target audience.
And just to spice up your fundraising message, dig up an old Barbie Doll news item and dub it Breaking Disability News as ADI's PR wizards do here.
Note: Those "new" Barbie Dolls - in wheelchair and with a prosthesis - were actually introduced by Mattel two years ago!
I don't normally write in midst of a horrific period for Haya.
But while I type this, she is in nearing 48 hours of what would undoubtedly be deemed by a hospital team as Status Epilepticus. Basically, that's the epileptic's nightmare - non-stop seizing - and I figured I ought to record it.
Until this struck us, she had been doing extremely well and was down to only 3-4 seizures a day. I was growing ridiculously optimistic about her new med, Fycompa, already dreaming about her possible future milestones.
Tomorrow night, her Fycompa dose rises from 4 mg a day to 8, as her neurologist instructed us. That's the therapeutic dose we've been aiming for these past six weeks.
But now I don't have the same high hopes I had for it's success as I did two days ago. And in any case, it will be some time before the higher dose kicks in.
Haya right after a seizure today
UPDATE December 25, 2020 - Friday afternoon 2:30 pm: Her seizures have worsened so we have one foot out the door in the direction of the ER. The memories of our last stay there are still so vivid and horrible. And I know the experience will only be worse now in the midst of our huge Covid wave.
So before resigning ourselves to the ER, I am making last-ditch efforts to get her under control at home with paracetamol, Advil and raising her Vimpat back to 100 mg. Insider tip: Avoid those paracetamol suppositories even when swallowing is problematic. They can escape from the rectum quite a while after administering. There's no way of knowing how much was lost so you can't re-administer. It just happened here!
As a last resort, I have prepared our Diazepam rectal tubes that have an expiry date of 2018. I've read the instructions carefully and studied the diagrams. We can't find any new stock in any of the pharmacies here. Haya's pediatrician believes they're probably still potent as drug expiry dates tend to be exaggerated.
I also called her neurologist who had succinct advice: "Get her to the ER."
In three days we've gone from counting the number of seizures/day to the number of minutes between seizures!
Will update - hopefully from home. Meanwhile here is Haya, whacked by her ordeal.
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