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.

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.

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.

C. gets dumped

Last week's hydro and C. is with the replacement therapist

As you regulars are by now aware, hydrotherapy is unequivocally the highlight of my daughter's life. We go to great lengths and expense to give her this perk.

I've posted numerous photos and videos of her hydro performances. And we couldn't ask for a better therapist.

So I was blindsided three weeks ago when that therapist informed me she would cease her work with C. and swap with another therapist.

While I do consider the one she's swapping with to be competent, she can't compare with her previous one.

And here's the reason her "ex" gave: the woman hasn't been feeling well recently (she cancelled last week's sessions) and was told by her doctor that one cause of her symptoms was stress. He advised her to eliminate as many stress triggers as possible. Turns out our C. was top of her "hit list".

You're probably as baffled as I was until she explained that she always dreads that C. will seize in the middle of a session.

She said she hopes I'm not offended.

Now, since I've never blamed myself for C.'s epilepsy, I can't fathom why I'd take offense. But I sure am disappointed and confounded.

C. has rarely seized during a hydro session and, even when she has, she's recovered within two minutes. And this same therapist has years of experience with epileptic children at C.'s old school.

But the bottom line is that it stresses her now.

What helps me understand her situation is equating it with my driving. Once upon a time, I was fairly adept behind the wheel and capable of inter-city trips with relative ease. But I'm so jittery now, I never leave our city limits and only transport our grandchildren on brief, familiar routes - and never on highways.

Fortunately, C. has yet to scare away her Occupational Therapist or her Speech Pathologist. They both seem rather pleased with her responses to them. The OT is working on her grasping and releasing of objects and the SP on her responses to questions of preference with her hand. Pointing her index finger is the sign for "yes" and a fist is "no".

E., her caregiver, and I are trying hard to incorporate various questions into her daily activities. So before every sip of water, for instance, we ask her whether she'd like some.

Hoping they don't ditch her any time soon.

Back to hydro - and doctor problems

C. finally scored one hydro session during the month of her therapy pool's closure. I had hesitated to give her one because the water in the available pool - it's the one I swim in - is much colder than C.'s therapy pool. But our past experiences there, about a year ago, usually proved worthwhile nonetheless. 

So with E. and the Hubby we gave it a shot on Sunday. 

The first ten minutes she was tense, limbs bent and unable to float on her own. I was tempted to admit defeat. But eventually she floated independently, kicking slightly - admittedly shivering - but thrilling us all nonetheless for around twenty minutes. 

On the seizure front, we're still seeing somewhat of an improvement with the raised Vimpat dose though not the sort that halts the hunt for better control. 

But for now we're occupied with trying to get a neurologist to submit the paperwork required by our health fund for renewal of our Vimpat authorization. It expires on November 24th and the paperwork involves a neurologist filling in forms along with numerous other signatures, a time consuming process. 

The problem is we're getting the email silent treatment from the two neurologists who have most recently treated C. One is the doctor who recommended adding on Frisium while also recommending that we see an epileptologist since epilepsy isn't her area of expertise (she's a headache specialist!) We notified her that we'd heeded her advice re an epileptologist but not the Frisium tip. We were pleading with her to contact a senior neurologist who had helped us immeasurably in the hospital last year. 

No response from her. Apparently she had her heart set on C. getting Frisium - which would have brought her ant-epileptic tally three! (Excluding cannabis.)

The second neurologist ignoring us is the epileptologist we first saw last month - and paid out-of-pocket for the privilege. She is the one who urged us to raise the Vimpat dosage. And now she won't help is out with the Vimpat authorization paperwork!

Is there something in the water these neurologists drink that makes them so heartless?

In the dark and groping

Here we are, C. and I (my hand, that is) both struggling. She, to move her fingers on the board and elicit sounds. I to prod her to do that. At times we both succeed. Ever so slightly.

In the world of profound disability, the minutest desired movement is welcome. But sometimes even that eludes us, as you see here.

In this domain, I'm really just groping in the dark.  I rely on whatever meager Occupational Therapy skills I've gleaned from professionals over the past twenty years. It can be an exercise in frustration and futility.

In the dark and groping from Mary Silenti on Vimeo.

The OT's at C.'s school are in the same predicament. They may very well succeed with the less severely impaired children. But when confronted with C. and those like her, they are rather clueless. In the fifteen years she's attended that school, they've achieved nothing with her.

I know that there are OT's out there whose expertise lies in working with profound disabilities. The Hubby and I once hired a pair of them for an hour at great expense. C.'s school lacks the funds to employ them and we couldn't afford to bring them back to our home.

But our government clearly can. If it re-channeled just a fraction of the multi-million dollar budget it lavishes annually on large, closed institutions, to children with disabilities who live at home, this problem would vanish.

And C. might actually press the buttons on her toy board. It's that simple.

Yikes: The VNS rep called already!

From a Howcast video

This VNS business is galloping ahead at break neck speed.

I'm used to medical matters that take ages to be resolved. Like my left-eye's cataract which has been rendering my vision progressively more blurry for three years. I am only now about to have surgery on it. (And that hysterectomy I was told I need which I've put on hold for now.)

In contrast, not even one week after our visit to the neurologist, the rep/nurse called to set up an appointment here at home. I am not psyched up for C. having another surgery just yet and feel that the powers-that-be are disconcertingly eager to implant the thing in her.

But as the Hubby reminded me, we've only committed to a chat; no knives or anesthetics or hospital stays involved at this stage. Still, I have a hunch that we'll be offered a date for all that which will leave us little time to  ponder this move thoroughly.

I suppose my reluctance to race ahead with this is also related to blessed calm C. has been enjoying since those four awful days last week.

Well, in any case, the meeting is set for Tuesday and I'll keep everybody posted.

Not minding the minor maladies

There have been new challenges piled onto to the old and constant ones. 

I briefly mentioned C.'s bedsore which erupted one month ago. The health fund home-visiting nurse vetoed hydrotherapy until total healing. Fortunately, the school nurse and our pediatrician declared that advice to be overkill so we've been sending her to the pool - albeit without mentioning it to the home-visiting nurse. He is the sweetest person you'll ever meet and I'd hate to offend him with our disobedience. 

So the only hassle has been re-bandaging the wound after every hydro session and otherwise every 48 hours. Oh, and, of course, the hassle of looking at it. 

Next, this week brought us edema in C.'s feet and hands. Now we've dealt with the feet version and found that religiously raising them while C. is seated and lying is very effective. But the hands are new to us. How do you raise them? Is there a different treatment for them? The school nurse told me to ask the physiotherapists. I should do that. I may actually do it tomorrow. 

But for now I'm just letting this one ride.  My past encounters with the physio staff haven't been enjoyable and I don't relish speaking to any of them.  I did ask the teacher to consult with them on my behalf. So I may get an answer that way. 

Finally, I was informed by today's hydro-therapist who in turn told this to the nurse: C. has a sore on her tongue. Not to belittle tongue sores but, with C. feeding herself really well lately, I just can't rev up the anxiety over a sore which I can't even see and isn't bothering anybody (other than the hydro-therapist).

If you ask me, and I wish somebody would now and then, I'd say epilepsy and profound physical and cognitive impairment are enough all on their own. I really don't need all these other minor maladies added to the mix. 

P.S. Psst. I don't want to invite a jinx by broadcasting this so mum's the word: C.'s seizure count has been low these past few days. Could we be headed for the post-benzo good times?