As good as it gets

Happy birthday, Haya

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.

Happy birthday, Haya!

Update: Meals and therapies

We are persevering with the Ketogenic Diet. 

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.

Haya's keto diet in no way resembles the Google images that pop up for that term, such as this one below. 

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!

Update: Epilepsy medication

We are nearing the end of the 6 mg phase of Fycompa (generic name: perampanel) and approaching the therapeutic dose of 8 mg.

We still haven't located anyone else taking this drug which received its first FDA approval in 2012, for patients over 12 years old. And in 2018, was approved by the FDA for anyone over the age of 4. 

Some of the possible side effects are irrelevant to Haya.

For instance slurred speech; we're actually hoping it does give her some slurred speech!

And deterioration in gait: any sort of gait would be great!

Status report: Status epilecticus

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.

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.

Low expectations are the key

As I  mentioned [here], November was Epilepsy Awareness Month.

But nothing can be as stark a reminder of the tragedy of epilepsy as a death that results from it. Because while most people are aware that epilepsy is a debilitating ailment, and that the treatments available have many serious side effects, few view it as lethal. Even those of us whose loved ones suffer from it.

So the horrific death this week of a beautiful, vibrant Jerusalem teenager after an epileptic fit landed her under the light rail ["Jerusalem light rail strikes, kills 19-year-old woman"] warrants publicizing.

Haya, of course, is not in any danger of dying from her epilepsy in a similar manner. She never even stands independently. But SUDEP is a constant threat.

In the meantime, we struggle to reap the most minor achievements from her through therapies.

Occasionally, thanks to our rock bottom expectations, we find cause for celebration. Here she is in the video clip above impressing us all during her Occupational Therapy session this past week.

Who knew?

So here I am immersed in researching and coping with Haya's epilepsy but oblivious to an important epilepsy detail: November is Epilepsy Awareness Month!

I just learned that on a visit to the Facebook page of The Families SCN2A Foundation. The page also noted that one-third of all epileptics have refractory seizures.

But while that means that in one sense Haya has plenty of "friends" in the same boat, she is still in a distinct minority.

In 2018, there were only

276 known SCN2A cases identified to date (see Table S1 in the Supplemental Information online)... At present, the number of known SCN2A cases is roughly
equal between IEE [Infantile Epileptic Encephalopathy] and ASD/ID [Autism Spectrum Disorder/Intellectual Disability], likely reflecting differences in the adoption of genetic testing.

[Source: "Progress in Understanding and Treating SCN2A-Mediated Disorders", online here]

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!

A hospitalization journal

Sunday, October 7

I'd hoped we could keep these hospitalizations annual - but it was not to be. Yesterday, a half hour after feeding herself a big meal with gusto, Chaya vomited it up in its entirety. Afterwards she copiously vomited liquid every couple of hours.

We tried caring for her at home administering Pramin suppositories - acquired from a local gemach  - as her pediatrician advised. He said that without fever or diarrhea the likelihood of dehydration was slim. But the Pramin had no effect. Horrific doesn't come close to describing that night. 

By morning, there were strands of brown blood in the vomit rendering the question of "what to do" a no-brainer. So here we are back in the ER, 11 months after Chaya's last hospitalization. 

So far, she's weathered a chest x-ray and a 12 hour struggle to get urine via a catheter (an incredibly incompetent nurse couldn't get any urine even though Chaya's on a fluid drip. The next shift's nurse collected it with ease. The consensus: it's another UTI. 

This leaves us at a loss as to how to prevent them. We had to stop giving cranberry juice several weeks ago because that seemed to cause vomiting. Should we now resume that, perhaps in a more diluted form?

Tuesday, October 9

Here we are, finally, in a proper ward (where we waited several hours in the corridor for a room):

The doctors' diagnosis has done a 180: UTI is now negated and replaced with "some infection, somewhere", possibly gastroenteritis. Presumably that triggered aspiration of vomit since the blood test results indicate infection. The profuse vomiting may then have caused intestinal bleeding which appeared in her vomit. 

She's still getting IV Controloc (pantoprazole) to prevent a repeat of that bleeding although there's no sign of it anymore, not even in her stools.

Bumped into that neurologist who we concluded had dumped us when she ignored our last email. Apparently she never saw it and is happy to resume her role as Chaya's neurologist. While she's pleased we consulted that senior epileptologist she recommended, she warns that getting regular appointments there won't be easy.

So she promptly ordered a CT and an EEG for Chaya. She also assured us she'll contact that terrific American neurologist whom we encountered during last November's hospitalization. He's the doctor who rescued Chaya from the avalanche of drugs that had reduced her to semi-comatose. 

I may have mentioned here that we can't contact consult him directly because he doesn't have a practice; this neurologist who will be our conduit to him decided to search for info about central fever and told us she learned it's not uncommon among uncontrolled epileptics!

Chaya is now off the IV drip and has begun to eat and drink. She's back on her Vimpat which was only available in pill form. (They had Keppra in IV form, so she's been getting that regularly). But I haven't resumed the cannabis yet.

We've missed hydrotherapy - Chaya's pinnacle of pleasure - which takes place on Tuesdays. We may also miss the long-awaited delivery of Chaya's new wheelchair scheduled for Thursday.

Wednesday, October 10

Back on the drip because, after a batch of heavy seizures, Chaya was unable to eat and could drink only a bit. A CT was done this morning. Not clear why it was ordered but haven't heard any results yet in any case. UTI has been ruled out even more emphatically today. It's not looking as though we'll have C. home in time for the wheelchair delivery tomorrow.

And here are a couple of gems from the medicos...

Nurse about to finish her shift comes around with next shift's nurse to do what is known here as חפיפה (= passing the baton). I hear her mention that she had taken Chaya's temperature which was slightly elevated but that she decided against Tylenol. I told both nurses that she is seizing badly and could actually benefit from Tylenol for her fever. Then the nurse about to leave delivers her pearls of wisdom: "You see, she's seizing badly because her epilepsy isn't controlled. It needs to be brought under control. She needs to see a neurologist." To me: "You should consult a neurologist." 

I regret that I didn't ask her: "Why? Do you think she might have epilepsy?"

Wednesday night, October 10

I witnessed an argument between two doctors at the station which was situated immediately outside our cubicle. I had the curtain open so couldn't avoid seeing and hearing one, a male , tell the other, a female: "You're a hussy". The other responded: "Well tell me, do you know the patient's background?" "You ought to tell me it", snarled the guy back at her. "No, you're supposed to know it," she repeated. "Why don't you just do your job?" The guy shot back adding once again: "You're a smart-ass." 

Help! So many lives are in the hands of these nincompoops.

That same male doctor had earlier declared to my husband as he saw him approaching: "Whatever you're about to say, I'm not interested unless it's urgent. I only deal with urgent matters."

Thursday, October 11

Chaya will be released today. Didn't see that coming. The CT negated anything alarming and the EEG showed no change since the last one.

While she isn't eating or drinking much, I nixed the nurse's suggestion of a feeding tube. On Tuesday, a speech pathologist assessed Chaya's swallowing skills and they passed muster. So I figured it was best to just persevere with feeding by mouth. Minimize intervention is our credo.

Thursday night, October 11

Home! And, the icing on the cake is that the new wheelchair is here too! Here is Chaya, sitting in it for the first time:

Next up: Aleh actually encourages parents to give up their children to its institutions. It does so via its new Hotline. No wonder that hospital staff repeatedly asked us about Chaya: "Where does she live?" And were surprised by our response.

Making it a round dozen

Last week, we tried out a new neurologist, one who specializes in epilepsy, aka an epileptologist. This brings our tally to roughly a dozen since, when she was three months old, we discovered that Chaya was neurologically impaired.

In the hospital waiting area

Here (right) is Chaya at the hospital while we wait to be admitted to the new doctor's office. 

We had to pay out-of-pocket because the earliest appointment with her that we were offered in the public clinic was April 2019! At a time like this, our system feels like "public medicine" only nominally. We are forced into the private domain too often.

This epileptologist gave us an hour and a half during which we covered Chaya's history, symptoms and functioning. 

Afterward the doctor conveyed her thoughts and recommendations. This probably sounds rather routine but, trust me, in our experience, it's a rarity. We really felt that we got our money's worth.

Of course, that's not to say we left her office uplifted. There was much for us to digest and ponder. So here goes.

Med changes

First, she recommended raising one of the two anti-epileptics Chaya's on, Vimpat, by 50 mg/dose. I promptly did that the following night. After two weeks, we raise it in the morning as well. She said the current dose is considered low. Who knew? (And who knew that nabbing those 50mg pills of Vimpat would be so challenging. So, beware, they are in short supply and available only in a handful of Kupat Holim pharmacies).

She also advised doing a blood test to check the level of the second drug Chaya gets, Keppra. Her current dose of that drug - 1,500 mg. twice/day - is also deemed low. Again, news to us. Our previous neurologist either was unaware of that or just kept it a secret. 

In fact, at our last visit she had recommended adding a third anti-epileptic! Frisium! That's one of the benzodiazepams that rendered Chaya semi-comatose during her hospitalization back in November! (As the exclamation points indicate, I haven't yet recovered from that nightmare.)

By the way, that incompetent neurologist never bothered to answer our last email. In it, we mentioned, inter alia, that we had not added the third med, Frisium, as she had instructed us to do. I suppose she wasn't too pleased with that.

Back to the new neurologist...

Video EEG

We've never done one and she'd like us to. So some time in the coming weeks, Chaya will be hospitalized for 24 hours. Here's hoping we glean some helpful revelations. Our Kupah has already given us a hit'hayvut for it.

Chaya's frequent fevers

New neurologist wasn't impressed with the exclusion testing that C.'s pediatrician did. As I've written, he did a thorough clinical exam and blood test before concluding that the fevers Chaya's now getting - they max at 100.6 degrees Fahrenheit rectally - are not caused by an infection. Ergo, they must be central.

New neurologist said that those exams weren't enough to reach that conclusion. She said she's seen patients whose seizures are more numerous than Chaya's but who never get central fevers. She suspects there could be some underlying condition, perhaps related to her life-long thinness, triggering the fevers. She said the pediatrician should have referred us to a specialist - she couldn't specify but tossed out endocrinologist and gastroentereologist as possibilities - who could run further tests. 

"Ouch", I thought when I heard that criticism of our ever-supportive, brilliant and kind pediatrician. But the following day, he read the new neurologist's summary with equanimity, then promptly gave us referrals for a couple more blood tests to tighten the "central fever" theory. He never ceases to amaze us.

VNS

New neurologist strongly urged having a new VNS implanted. The one Chaya sports now dates back to December 1999 and never helped her one iota. She advises trying it again. Of course, this time we'll have somebody better equipped to calibrate it afterwards. Back in the year 2000, there wasn't any such expert in this city. (I know, I know: so why did we implant it then anyway? That was just another of our many blunders.)

But removing this old one isn't easy, we've been told, because the wires are now overgrown with skin - or something along those lines. 

Also, the last neurologist to push a VNS replacement was the one who destroyed Chaya's liver with Valproic Acid and refused to own up to it. Negative associations.

Cannabis

I had braced myself for dismissiveness so I was relieved when new neurologist simply noted that Chaya's CBD dose is very high. Which would explain why the Health Ministry refused to renew our license for 11 bottles (= 100gm) per month. Our new one permits only 10 bottles/month.

She said Chaya's current dose would be more efficacious in the form of vapor which is absorbed far more quickly. I haven't gotten around to inquiring about the availability of this form at our supplier, Tikun Olam. My hunch is we'll need to switch to another supplier (the one that the doctor recommended); not a process I relish.

Hydro

Last week yielded a brief respite from frequent seizures and fevers during an extra long hydrotherapy session where Chaya truly rocked. Here she is:

Sadly, the therapy pool will be closed for the entire coming month. Wishing everybody a G'mar Hatimah Tova and an easy fast on Yom Kippur.