Phenytoin, you're fired

That's me, walking C in our kitchen
seven days after we stopped
the Phenytoin

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

On the second horrific day and after five hours of that hell, I reported it to her new neurologist, I also just stopped administering it even before her response.

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

I pointed out to her that on the day of five hours worth of convulsing, C. 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 weather. I doubt that. Dry weather is common in these parts but, as I noted, nary 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 ten months and only ditched it when C. began vomiting 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 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 C.'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 C. 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.

Phenytoin is up next

Very excited to share that my daughter C. 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. 

Aside from CBD, this addition will bring C.'s anti-epileptic tally to three. And while I loathe giving her so many at once, as the neurologist emphasized, the cardinal rule is one med change at a time. So, we'll wait until C. has settled into the therapeutic dose of phenytoin and then, the doctor promises me, we'll remove at least one of the others. 

She even asked me which I believe is less effective. I told her that's hard to judge but since Vimpat was added last and there hasn't been an improvement since, I'd like to see the back of that one. 

Truth be told, her other med, Keppra, isn't anything to write home about either.

Hoping to get the script for Phenytoin (marketed as Dilantin in some markets) tomorrow.

UPDATE

Yay, got the script and C. has taken her very first Phenytoin pill.

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

But, I reminded him, those new ones just don't help C.

Here's some Wikipedia input:

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.

Hoping that stellar reputation will prove well deserved!

Diagnosis delirium

From Beyond the Ion Channel: The ILAE Genetics Commission Blog 

It only took 24 years but the idiopathic era is now behind us. Because we finally have a name. A name, that is, for what makes C. seize uncontrollably and incapable of doing just about everything.

It's Early Infantile Epileptic Encephalopathy Type 11 - or EEIE11 for short - for which we owe thanks to a mutation of the gene SCN2A.

We received the news in the geneticist's office which we entered and exited in 15 minutes. There just wasn't much for her to tell us, other than our daughter is the only one in the world with the mutation on the specific protein she's got.

And to learn more: "Go home and Google it." (She said she would have herself but came unprepared because of an office scheduling snafu.)

It goes without saying our fingers are calloused from heeding her advice. But Google has offered precious little. We now know that this diagnosis is rare, still being researched and at this point untreatable.

The silver lining to this bleak news is that the mutation is de novo.

That means it isn't hereditary and, consequently, is of no concern to our offspring. The de novo-ness was confirmed by doing the same full exome test for me and my husband which revealed that neither of us carries that mutation. From what I've read thus far, I've also learned that the most severely affected cases are the de novo ones. (A cloud in the silver lining?)

This thing is so rare that a couple of journal articles report studies of individual children afflicted.

Which leads me to believe that some neurologist out there might be eager to study our C. Not only is she rare, but our geneticist said that she's the only person with the mutation on that specific protein of SCN2A.

Since I will never give up hunting for some treatment that might just ameliorate C.'s condition even a smidgeon, I'm asking anyone who has had experience with this syndrome/mutation to please contact me.

In the meantime, here (above) is a video clip of my daughter C, showing slight progress with pushing her switch to play music.

Unamusing musings

Plodding along with C. Daily assisted walking, weekly hydro and now, intensely working to get her pushing the "button" independently. Not there yet, as you see in the clip below, but we're optimistic:

I just read the jarring news of the death of Cameron Boyce, a Disney actor who died in his sleep following a seizure at the age of 20. While my daughter C.'s seizures are horrific, distressing and all similar adjectives, I never fear that they're also lethal. 

My concerns are that they heap fresh damage on her already-ravaged brain and that they occasionally render her ragged and non-functional for hours. 

But I never consider that they could do worse than that.

Apparently I'm not alone in that misconception. It's common even in the epilepsy community. You can read more about epilepsy fatality and how the medicos kindly contribute to our ignorance of it here.

And as long as I'm in pondering mode: 

I wonder how many of you have friends or relatives who you are pretty certain consider you nuts for devoting yourselves to keeping your sick children alive. You know, folks who think: "Why do they expend all that energy, money, time and emotion on a child who has barely a modicum of "quality of life"?

Well, I've got a couple such people in my circle. 

One had a brother who, in his forties, suffered several mini strokes that left him severely incapacitated for years. Then while lying in bed he somehow broke a leg - although he wasn't mobile. Despite several weeks in a cast, the leg failed to heal. The doctor told my friend that it needed to be amputated or he would die from gangrene. She asked this doctor, who wasn't actually the one treating him, as that one was away on vacation: "But if the leg didn't heal from its break won't it fail to heal from an amputation too?" As my friend related it to me, the doctor replied "That's right."

That was her brother's death sentence. Because then and there my friend decided that amputating was pointless especially since he had no "quality of life" anymore. She placed him in hospice care to await his end, which she was told could take up to six months. 

I didn't intervene because I figured she wouldn't take kindly to it. 

Shortly afterwards, his G-tube fell out and the hospice nurse told my friend that they couldn't replace it. That could be done only in hospital but, the nurse warned, if he would be hospitalized, he couldn't be readmitted to hospice. So my friend decided to leave him to die of starvation in hospice!!! Without even giving him fluids!! 

This time I did intervene and asked how he could be denied even water. Well, he could, and he was. She flew to the US to be there when he died. She told me he was "very focused" whenever his nieces and nephews Skyped with him. I take that as his conveying a will to live. But nobody was listening.

Then there is this neighbor/friend who had a Tay-Sachs child who passed away at the age of four or five. When C. first became ill and epileptic, that mother told me that her child's doctor had advised her to "get her daughter out of the house" when she began seizing. She dutifully did that, sending her to a hospital in another state. 

Bear in mind that everybody knew full well that the child had a short life expectancy. 

Well, the parents rarely saw her after that. But fortunately, the child had a compassionate grandmother living in the same city as that hospital. The grandmother once told me that she would visit her granddaughter daily and took her for walks in a pram she redesigned to accommodate her. (This was some forty ago and disability equipment was still primitive.) She said the nurse told her "This child has survived as long as she has only thanks to your daily walks with her."

I wonder what that neighbor/friend thinks twenty-three years on when she sees me with my C., still alive, still at home, still loved.

We don't speak much anymore. 

A few fabulous firsts

My daughter C. has had several recent "firsts" that I've been derelict in relating. No valid excuse for that other than 24 hours just no longer suffice for me.

I 

C., my husband and I went to our local hospital to give blood for her first whole exome sequencing. Our own blood will only be used for comparison in the event that something comes up in her test.

The geneticist forewarned us that there's only a 20% chance of that happening. Meaning, the likelihood is we'll be left with the diagnosis we've lived with for over two decades, namely spontaneous mutation.

But since genetic testing is still cutting its teeth, there will undoubtedly be new tests available in the near future. C.'s blood will be stored for that eventuality.

II

C. has returned to the therapy pool - and to her regular, pink bathing suit - with a new hydro-therapist. As I grumbled here recently, her previous therapist ditched her because, as she explained, C. was stressing her out with her very occasional stressed seizures during sessions. .

So we tried out a new one which the school offered us. After two sessions with her, I believe I can safely declare her to be unequivocally perfect! 

Here she is with C. (above).

That beloved wetsuit I've been raving about is stashed away for now, unnecessary in the well-heated therapy pool. 

Besides, we're having a heat wave here and transporting C. in a wetsuit to the cooler pool where I work with her would be a torture for her. I'll miss giving her those longer 40-45 minute sessions. She only gets 30 at this school.

But the transporting is also a strain for my husband who is in the throes of a debilitating case of CMV.

III

C. went swinging for the first time in her life. We had a family gathering a couple of months ago where we discovered a swing suitable for children with disabilities. It doesn't accommodate a wheelchair but it was a treat nonetheless. 

So here she is (in the photo) discovering the sensation of swinging.

IV

The spiffy switch we'd been awaiting is finally here.

We've borrowed it from a local rehabilitiation center to try it out. If C. responds well we'll purchase one.

Here she is (on the right) pressing to trigger taped music and looking suitably engaged!

V

Unfortunately the "First" we're anxiously awaiting still - namely, having C. seated comfortably - has not yet materialized.

The modifications to the new chair which a physio-therapist at that same rehab center reccommended haven't arrived yet.

So C. is still suffering in her old, ill-fitting chair.

Another shot at our wheelchair woes

After a long delay, my interview with a major local news station, aired. I spoke about institutionalization of people with disabilites and about raising a child like C. at home. 

I mentioned my recent guided tour of a local, large institution that houses 80 such residents ranging from infancy to 40 years old ["My plunge into activism"]

The avalanche of venomous comments my words generated on that station's website - some were downright ad hominem - shook me to the core. Now I wonder whether doing the interview was wise, notwithstanding the praise that a leading activist sent me. 

Anyway, no turning back the clock; I'll have to just weather it.

We have two important, much-deferred appointments approaching for C.

One, tomorrow, is with a physiotherapist who is a seating expert at a major rehab hospital in our city. We'll bring C. in her new, unusable wheelchair to ascertain whether it is salvageable via inserts and sundry adjustments. Since the chair can't be disassembled we had to book a special van from a local non-profit to transport it.

I've really had it with the old wheelchair we are now using - it's only slightly better than the frigging new one. Here's hoping we return home tomorrow with some sort of magic-seating-bullet.

The second upcoming and long-overdue appointment for C. is with a geneticist. The goal is to finally diagnose C. with something, anything, i.e. not only symptoms but an underlying cause -. rare syndrome, a random mutation, not fussy.

We hope, for one, to thereby relieve our other children of the worry and fear hanging over them with each of their pregnancies. We also hope to learn that whatever C. is afflicted with would respond -even minimally- to some treatment. 

Modest goals, right?

C. has been seizing a lot lately. Not quite status epliepticus but demoralizing nonetheless. 

Notwithstanding, she positively rocked again this week at my hydro session with her, after entering the water with seizures. 

Too bad we don't have a private pool to zap those seizures with every day. 

Voting for the vapors

Last month, we brought my daughter C. back to the epileptologist who first examined her in September 2018.

At that first visit, this  doctor patiently recorded C's history as we related it. She then recommended several new tests and treatment options. We left her office feeling optimistic.

But once we tried to implement her advice, we hit snags. The primary one was our inability to contact her staff. They never returned calls or emails and without coordinating everything with them we couldn't proceed.

I was prepared to just forget about this epileptologist notwithstanding her superb credentials but the Hubby preferred to persevere.

So last week we expended a second round of time, energy and money to shlep back to her with C. As it turned out, the latter proved entirely unnecessary: the doctor didn't so much as look at C., let alone touch or medically examine her - even when she had a huge seizure in the office.

One of her concerns back in September was C.'s low weight. This time she asked us whether she had gained at all since our last visit. But she didn't trouble to weigh her on either occasion. C. might as well have been invisible and our efforts to bring her to the office were clearly unnecessary.

I was disappointed and annoyed. What do you all think? Am I quibbling?

This time around, her assistant did contact us a few days after the appointment, as the doctor had promised. She is instructing us on how to switch Cannabis CBD suppliers. This is a complicated process involving reams of paperwork required by the relevant government department.

The switch is necessary in order to procure CBD in vapor form which the epileptologist believes is absorbed more thoroughly than the oil C. currently receives.

To start with, we will divide dose between the two forms.

But this option was not the epileptologist's first choice. What she plugged most enthusiastically was surgery. She is keen to have C.'s twenty year old, inactive Vagal Nerve Stimulator (VNS) removed and replaced with an updated, more sophisticated version.

We had this urged on us three years ago by another neurologist: the one who destroyed Chaya's liver with Valproic Acid and then, when we notified her of the liver crisis, washed her hands of us. So, I'm sure you'll understand why I don't harbor any positive feelings for that option.

Back then, we even met with the surgeon himself. He informed us that the surgery would be "complicated" but doable. He too was eager, though he warned us that he would only proceed once C. gained some weight.

Before C. could oblige us that way, liver failure struck and the neurologist who had been touting the VNS surgery, as I mentioned, fled the scene. (After making the preposterous assertion that the liver failure had probably been triggered by the CBD and not by the Valproic Acid!)

Fast forward to last week's visit: I've had a couple of years to mull that surgical option and am far less enamored with it than I was then. C. has been through the liver ordeal and several severe urinary tract infections in the interim. What kind of candidate for surgery does all that make her?

So this time, I pressed hard on the brakes. "Thanks, but no thanks." I told the epileptologist. "C. will try the CBD vapors before we subject her to any complicated surgery." Or something to that effect.

Of course, the doctor tried to convince me of its "uncomplicatedness". But I wasn't buying it this time.

Here's hoping those vapors deliver C.'s ravaged brain a bit of respite from the decades of daily seizures she has endured.

On Status Epilepticus, the status quo and my status mentis

I've written these words several times in the past few minutes to family members: 

"I'm at my wit's end. We've had a full day of seizures with a brief respite of about two hours. Otherwise they are coming every four-five minutes."

That was me losing it on Thursday night. Much of Friday night saw me similarly frantic. 

Saturday's string of seizures was shorter, so I drifted closer to sanity. Then today, after a couple of seizures, C. managed to perform well in the pool for a full 45 minutes. Here she is in aquatic bliss as we approached the chair that lifts her out of the pool.

A few hours later, she also performed passably well for both her OT and her ST who met together for the first time to decide which sort of communication board/switch would suit C. best. They concluded that what would be best for C. is a large switch/button with a rough surface that can activate either music or a story. 

The ST promised to procure such a device for her via one of the local rehabilitation centers. Hoping this won't prove to be as long and frustrating a process as procuring a wheelchair has been.*

And since then, C. has accommodated us with a few isolated seizures now and then, occasional low grade fevers responsive to Paracetamol and otherwise her "normality"'. 

It's amazing what a few days of status epilepticus can do for one's state of mind. I'm now OK with her few daily seizures and very low level of functioning. Even thankful.

But we need to forge ahead with doing something about her status quo. We'll search further for a local CBD supplier who can provide it as an inhalant. The only one we've located so far only has CBD with a fraction of the strength of the oil we now use: 11%, while ours is 30%.

Unfortunately, we aren't receiving any meaningful assistance from C 's neurologist or her staff. Somehow, I imagine she'd be far more pro-active had we chosen the surgery route i.e. switching C.'s old VNS for a new one.

* Update: C. is still stuck in her old chair while we await our May appointment in that same rehabilitation center. We'll have to bring her there seated in her new chair via a special van provided by one of our local NGO's. The hope is that the seating specialist there will be able to finally solve the problems rendering the new chair unusable.

Our perilous pool

The therapeutic pool were my daughter has been doing hydrotherapy is still closed for repairs. 

If it weren't for that wetsuit we bought her on-line, I'd be positively apoplectic by now. 

But out of curiosity I inquired about the "renovations for safety" that the hydrotherapy business blamed for the closure. I contacted the special ed school where the therapy pool is housed (C.'s alma mater) and learned the truth: tiles had fallen from the pillars in the pool area! Yikes, I thought. What sort of professional therapy pool is that? 

Fortunately nobody was present on either occasion but that was just a fluke. The retiling job has, I was told, proven to be involved and lengthy. 

Here's a photo of one of those potentially lethal pillars.

Tokyo here we come?

C.'s therapist water-walks her in the pool

Our local therapy pool, housed in the building of C.'s alma mater, is quite nice and modern. 

The trouble with it is that it frequently suffers "breakdowns", as they're termed. The latest one has stumped the repair guys for over two weeks. 

But I wasn't as disappointed as you'd expect. It spurred us to take C. to my local non-therapy pool for the first time in her her new, state of the art, wetsuit.

We've already used it twice with undeniable success. She floated without support, and even kicked a tiny bit. E., her caregiver, and I believe that she may not have kicked with her usual enthusiasm because the wetsuit felt cumbersome. So, perhaps with time she'll get used to it and kick as she does in the therapy pool.

Most important, though, was that she didn't shiver, was relaxed and seemed to enjoy the water as much as she does the heated pool. She had been seizing badly prior to her second wetsuit session and wasn't yet clear of them when I took her in the water. 

But she actually calmed down totally after just a few minutes, confirming my conviction that swimming is soothing and beneficial for her in every way.

I'm now weighing whether to simply drop her sessions at the therapy pool once it's repaired. I do everything that the trained hydrotherapist does and those sessions are $44 a pop. (Our health insurance only allows us 12 sessions annually at their expense.) 

I'm doing the therapy myself with C. in our local public pool.
Check out the wetsuit.

Oh, and there's the fact that the best hydrotherapist dumped her ("C. gets ditched") so she would be with the second-best therapist. The latter likes to devote part of the 30 minute session on standing C. in the water. Since I walk with C. every day on land for 45 minutes, I figure water-walking isn't really crucial. 

Besides, C. doesn't seem to like it.