Where's the progress for the profoundly disabled?

Well, it's been a while so I'll update regarding that protest demo I publicized here ["For Israelis with disabilities, two divergent paths"] a couple of weeks ago.

To put it bluntly: a disappointment. 

Meager turnout and infuriating response from the Ministry of Welfare, the building outside of which we protesters stood. A number of people with disabilities participated and expressed their anger. 

The mother of Effie Ben Baruch, the young man who recently died from physical abuse by his caregivers, was there. I approached her asking how she was connected to Effie - I had a hunch she was his mother from her grieving demeanor:

When we first approached the building's entrance gates, a guard asked the man in the wheelchair leading us: "Who is your representative?"

The wheelchair-bound man was duly infuriated: "We represent ourselves!" he responded.

After the protesters were refused entry, they demanded that the director of the Ministry's department for disabilities come down to speak to us. He did not deign to do that.

Instead, some other employee from an unrelated department eventually emerged from the "fortress" and promised that the director will be visiting Effie's bereaved family soon.

Hmmm. I call that a slap in the face.

As I overheard one protester in a wheelchair telling his friend: "This protest takes me back 30 years!"

Precisely. The baby steps of progress for the severely disabled actually feel more like deterioration in comparison with every other area of social welfare.

That impression has been reinforced since joining the Facebook page "Special Needs Mama's in Israel". I hoped to find camaraderie, a common cause, etc. Instead, I sense that parents of children with profound disabilities aren't even on that page's - or society's - radar. We're invisible. The gripes and venting posted on the page make me feel so isolated. 

I fairly pray for the sorts of problems that those parents bemoan. For instance, one mother related how her daughter sat on the curb and cried after waiting three hours for a bus to go to a movie with friend. Several buses had passed her by. As one commenter noted: "I'd have cried too!"

At my husband's urging, I'm considering starting a Facebook page for parents in my boat.

Any of you caring at home for children with serious disabilities, physical/cognitive, and craving such a forum please comment here. If you prefer privacy, I can provide my email address at your request.

BTW, once again, and unfortunately, that protest only received coverage in the Hebrew language media, so I will translate the following piece asap. 

For now, I've done the headline and the intro:

"I am not prepared to be stashed away in an institution": Will the resident who died from abuse advance the closure of institutions for people with disabilities"
The death of Ephraim Ben Baruch in an institution highlighted that the era of institutions for people with disabilities, mostly in private and barely supervised hands - has ended. But the transition to in-community living is happening at a slow pace, thousands live in danger, and the State continues to violate the law. This week families protested against additional neglect from outgoing Minister of Welfare Chaim Katz.

More to come.

At Malki's graveside: Eighteen years

A photo snapped by a friend at the cemetery
during yesterday's memorial service

With the passage of time, I am struck more and more by the briefness of Malki and Michal's lives.

When Malki was still with us, I often related to her as a friend. She was, after all, the oldest of our daughters and extremely mature in her behavior.

But now, after 18 years, it is clear that she was but a child at the time of her murder. Which renders what she packed into those few years all the more incredible.

The giving, the love, the generosity and the volunteering, the smiles and the laughter, the faith and the faithfulness, the flute-playing, the creative artwork - all these she accomplished in incredible quantities and in a mere fifteen years. 

What a child we lost! How does one continue despite such pain?

And an even tougher question: How does one continue in our forefathers' path despite the pain? We grapple with this challenge every day.

This coming Shabbat, Parshat Ekev will be read.

In his commentary on this Torah portion, contained in his book "Esh Kodesh", Rabbi Kalonymus Shapira, the Rebbe of Piaseczna, offers us the following advice.

In the context of the Gemara, Masechet Shabbat כ"ה ע"ב, the Esh Kodesh, as the Rebbe has become known, writes that there are long periods in the lives of all rabbis when "the angel of G-d in them is not revealed" - meaning when a rabbi is not spiritually at his peak. 

In such situations, his students "awaken in him the Angel of G-d". By approaching him and asking him Biblical questions "they themselves cause him to resemble an Angel." 

The inquiries and questions emanating from the youths in our lives are what prevent our succumbing to pain. They keep that inner "Angel of G-d" from "waning and fading", in the words of the Esh Kodesh.

Let us pray that we always have beloved students at our side to provide the strengthening and awakening that will enable us to endure the endless pain and longing.

For Israelis with disabilities, two divergent paths

In Ilay's cafe, via Facebook

Sometimes we are blindsided by uplifting stories about people with disabilities in Israel.

It's important to circulate them, rare though they are, if only to note that Israel is not a desert of insensitivity and exclusion when it comes to our citizens with disabilities.

And here's a link to the (Hebrew-language) tale, via Israel's national TV news, of the mother and brother of one such person, Ilay, from whom we can learn about love, understanding and true inclusion.

If the Hebrew is beyond you, it's the the story of Shulamit Regev, a widowed single mother of twin sons, one of whom has recently enlisted in the army. The other is autistic and non-verbal. The boys have a very close and loving relationship. We are shown clips of them interacting as children and in real time. Then we are told of a cafe that the mother purchased and runs (as "Ilay's Place") where her autistic son works and hosts the customers in his uniquely welcoming way.

We see him in the kitchen demonstrating impressive culinary skills and hugging and kissing each and every customer in his gentle, unintrusive way.

But to inject a dose of harsh reality comes news of the death of Effie Ben Baruch, a resident of a closed institution for people with disabilities.

Cognitively impaired, Effie was allegedly killed by one of his caregivers in the Haifa facility called "Ramat Haifa". This is a link to a Hebrew news report about the tragedy along with photos from the protest rally held opposite that institutions days afterwards:

The poster reads: "Who Will Care for our Children When We are No Longer Here!"

A brief English report ("Disabled man dies after allegedly being beaten by caregiver", Times of Israel, July 26, 2019) says:

A disabled man died early Friday at a hospital in Haifa, two weeks after his caregiver allegedly beat him and caused him severe head wounds, Hebrew-language media reported. 

Efraim Ben Baruch, 29, was a resident in a care center for mentally disabled people. Shortly after arriving at the Bnai Zion hospital his condition deteriorated, with doctors declaring him brain-dead. 

The caregiver, Mohammad Khateeb, 19, from the city of Tamra, was arrested on Wednesday on suspicion of abusing a helpless individual. His remand was extended by six days. 

After Ben Baruch’s death, police said they were upgrading the suspicion against Khateeb to murder. A special investigation team was set up to assist in the probe of the incident. Police also said they would ask the court on Sunday to further extend his remand.

In court last week, an investigator showed judge Rivka Fuchs videos of the alleged abuse, saying there were “11-12 different episodes on the same day. His interaction with the victim is violent.”

Khateeb’s attorney had denied that the death was caused by her client, saying that Ben Baruch was taken to a hospital in the evening while he had suffered the wounds in the morning.

“There was independent harm,” she said, without elaborating.

A further response to Effie's death has been organized by Bizchut, Israel's Center for the Rights of People with Disabilities (my translation from Hebrew).

Sunday August 18, 2019, between the hours of 10:00 and 15:00, we will be protesting opposite the offices of the Ministries of Welfare and Treasury on Kaplan Street, the Government Offices Quarter in Givat Ram, Jerusalem, demanding a halt to the violence in institutions and hostels for people with disabilities and demanding their transfer in an orderly and respectful manner to independent lives with the personal assistance that they require before the next incident of murder occurs!

I plan to be there. If you're in Israel, I hope you will too.

At last - a pretty solid diagnosis

Let's hear it for the whole exome sequencing (WES) test and the Ministry of Health! (After all, it picked up the tab.)

After 24 years, we finally have a pretty solid diagnosis for Haya's symptoms; idiopathic has been officially deleted from our lexicon.

What was found is a mutation on the gene SCN2A. We learned the news in the geneticist's office which we entered and exited in 15 minutes.

A couple of weeks later, we received a more detailed summary of the findings which told us, among other things that a genetic variant was found which is designated VOUS or Variant of Unknown Significance on the gene SCN2A on Chromosome 2, exone 5

Mutations elsewhere on this gene are known to be the cause of Early Onset Epileptic Encephalopathy Type 11 (or EIEE11), a syndrome with symptoms identical to Haya's. 

While Haya's variant is on a spot where no other person is known to have one, the geneticists concluded that because 

"her clinical picture matches the clinical picture described in the EIEE 11 Syndrome, we are inclined to say that there is a high probability that the variant found in checking SCN2A which is described in the gene exome constitutes the cause of her illness... The laboratory in Germany that carried out the test concurred that the finding is a possible identification of the cause of her illness... It can be said with high likelihood that the parents and their offspring are not in any increased danger of a repeat of this anomaly in future pregnancies."

The geneticist recommended we consult a young local pediatric neurologist who might have some fresh treatment suggestions. She also promised to send Haya's file to a neurologist in California who is researching this very syndrome.

But trusty Google has provided precious little further info. We now know that this diagnosis is rare, still being researched and that at this point, no reliable treatments are known. 

We're hoping that one of those two new neurologists will help us. It's the nearly two and a half decades of clueless doctors that I've been vividly recalling. Clueless and arrogant.

There was the developmental pediatrician who was the first specialist we consulted. He summoned his entire staff at the Center for Child Development, which he headed. into his office one morning while he examined Haya. With utter confidence, he declared to his audience that she had been infected and damaged by CMV in utero. The trouble was, the blood test which I subsequently had proved him just as utterly wrong. I hadn't had CMV during my pregnancy.

That didn't phase the guy. Several months later, he declared to me with the same utter confidence that Haya had Rett Syndrome. At the time, there was no blood test to contradict that wild guess. But her then-neurologist pronounced it a false diagnosis. She didn't have any of the major symptoms, one being the "hand-washing" which had prompted Dr. Andreas Rett to classify this group of children as distinctive. 

A few years later, Israel's chief Rett expert examined her and declared that her gait indicated that Haya was indeed a Rett child. But when new blood tests finally appeared on the scene, they proved definitively that Haya did not have Rett.

I also recall another neurologist's declamation to me when Haya was about a year old: 

"She does not look like a child with a genetic disorder. It's not genetic." 

He also advised us to "send her away to an institution."

By now I'm sure it is clear why I am not a huge fan of neurologists. (You can read more about how I developed that distaste for them here: "A hospitalization journal".)

The silver lining to this bleak news is that the mutation is de novo. That means it wasn't inherited and, consequently, is of no concern to our offspring. Its de novo-ness was confirmed by doing the same whole exome test for me and my husband which proved that neither of us carries that mutation. 

One article I read posited that the most severe SCN2A cases are the de novo ones. A cloud in the silver lining?

One article that our son-in-law, a doctoral student of genetics, found us reports surprisingly encouraging results with unusual drugs. Conventional anti-epileptic drugs, it seems, actually exacerbate seizures for some Early Onset Epileptic Encephalopathy 11. 

But two drugs that are not intended to treat epilepsy were effective. Could that be why we find that Paracetamol helps her during a string of seizures?

In the meantime, here (above) is Haya showing slight progress with pushing her switch to play music.