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!