Inundated with awareness - but still no effective treatment

Well, it's clearly the gift that keeps on giving.

We'd barely recovered from all the "excitement" generated by SCN2A Awareness Day ["Life with the SCN2A mutation"] when February 29th rolled along. For those who were unaware of it - and I myself was until my on-line SCN2A support group annouced it - today is Rare Diseases Day.

With some 600 documented cases globally, this syndrome definitely deserves a place in that category. To learn more about life with this diagnosis you can read what I shared here.

And, at the risk of haranguing you, I will, once again, urge anybody in Israel, whose child has this diagnosis to contact me. You can do so here, as a comment below, or via email.

I'm sure that pooling our knowledge and experiences will benefit us all.

In researching this post, I also discovered that Israel has its own Institute for Rare Diseases. I'll be contacting it to find out whether they have any experience treating  SCN2A Syndrome.

Hoping that will produce something positive to share here soon.

Life with the SCN2A mutation

Image Source: Extracted from
this brochure

We had barely adjusted to the new reality of a firm diagnosis for our daughter Haya when the "awareness day" of her syndrome popped up.

February 24th was SCN2A International Awareness Day. I suppose its general significance lies in increased fundraising efforts which will enable new research successes. There still seems to be precious little knowledge about how to treat this horrible condition.

Note: I've seen it called "a catastrophic life-altering diagnosis" and I couldn't agree more.

Haya's refractory epilepsy continues to oppress her and us just as it has since it began 23 years ago.

But having a name for Haya's symptoms has nonetheless brought changes, albeit marginal.

For one, I have less hope that she will ever improve, even minimally.

I mean, for now there's no way to fight those mutated genes inhabiting her body. Perhaps one day medicine will discover some gene- altering treatment. But nobody is talking about anything like that at this stage.

There is, however, a thin silver lining, namely the relief we feel about our other children's genes.

While every one of their previous pregnancies filled me with anxiety, even dread, I'm now a tad more relaxed and stick to the standard pregnancy concerns.

We are still at a loss as to which new drug to try out in our quest for a modicum of relief from Haya's seizures.

The neurologist we thought would help us has gone AWOL and while she is very senior and experienced, she conceded that she has no other SCN2A patients.

Despite a concerted effort, we have failed to locate any parents of SCN2A children here in Israel who might be able to suggest a local doctor familiar with this mutation.

So, if you are in that category or know someone who is, please contact me here or at frimet.roth@gmail.com

Meanwhile, Haya now works with two switches (see image on the right). She decides which hand to use.

A big step forward for her.

No magic in this gala

In just a few hours, Aleh will celebrate its "Magical Gala", whatever that means. [Background in my earlier post "A gala to end all galas?"]

I, for one, am at a loss to see any "magic" in what Aleh offers children and adults with severe disabilities. It locks them up in large, isolated institutions the likes of which have been all but eradicated in other developed countries. 

It hogs a huge chunk of government funding available for the population with disabilities - by my calculations based on public records, some 80% or more of Aleh's funding originates in various government departments.

Of course, these aspects will be tidily swept under the carpet at the dinner Aleh donors will enjoy tomorrow. 

Undoubtedly, no speakers will mention that Bizchut, The Israel Human Rights Center for People with Disabilities, recently set itself three goals, one of which (which I translated from the Hebrew) is working "towards the passage of legislation based on every person with disabilities having the right to live in the community with the assistance that he needs".

The first of Bizchut's five "core values" listed [here] on its website is:

"Independent Living - Promoting the right to live in the community and receive personalized services. Bizchut pursues this goal by exposing the violation of rights inside institutions and calling for a transition from institutionalization to independent living. Bizchut is also promoting legislation that will establish the right of every person with a disability to live independently in the community."

There is no doubt that Aleh's "core values" clash head on with mainstream views of care for citizens with disabilities.

Supporters of Aleh - every one of them that I have ever encountered - are oblivious to these truths. I'll wager my last shekel that tomorrow's "Magical Gala" will only reinforce that.

A gala to end all galas?

Source: Israel Knesset

A recently-released Knesset report highlights the disappointing and anachronistic policies practiced by our government.

Entitled "Children with Disabilities", the succinct survey [Hebrew] was presented in May 2019 to the Knesset Committee for the Rights of Children in advance of the start of the committee's work in the 22nd Knesset.

It originated in the Knesset's Center for Research and Information.

Despite the progress achieved in this domain by most other Western countries, the report demonstrates how Israel clings to its backward ways - ways detrimental to the population they impact - toward citizens with disabilities.

As the most vulnerable in society, they and their families passively accept whatever the "powers that be" dish up.

Often it is presented to them as "the ideal" solution. Or as the embodiment of "inclusion" in the community. Or as "a real family". Among the most brazen proponents of that injustice is the largest chain of closed institutions for people with disabilities in this state, Aleh. [Those quotes can be found here, here and here in Aleh's marketing materials.]

Referring to 2017 data, the Knesset report says 2,740 children with disabilities lived in some kind of "out-of-home" arrangement. These included hostels, apartments, foster families and assisted living.

But the vast majority of them - 1,305 - were stuck in institutions a.k.a. "dormitories". Only 646 were in foster care.

On February 12, 2020, Aleh's donors will gather in Jerusalem to celebrate the policy of separating children from their parents and locking them up in large, isolated facilites. They will hear speakers laud that living solution for those who need round-the- clock assistance. They will ignore the alternative options for care that this population is entitled to and that such families receive overseas... but that are generally still unavailable in Israel.

When will Aleh's supporters remove their blinders and face the facts? Here's hoping this year's Aleh gala will be its last.