Gabi Ilinetsky was a happy new mother, overjoyed with her 3-month-old twins, Yoel and Yael. But she was starting to get an odd feeling about Yoel’s development.
“He wasn’t ‘tracking,’” she said. “When he would look at you, it would seem he’s looking through you.”
Concerned, she and her husband, Zohar, took the baby to Kaiser of Walnut Creek, where they were told that babies under 6 months shouldn’t be tested for delays, as it’s too early. They were told not to worry. But the Concord residents knew there was something wrong, and they wanted answers — now.
“I understood at that moment that I would have to push,” Ilinetsky said.
She was right. Both babies, who are now 6 months old, have a rare, usually fatal disease called Canavan Disease, which is caused by an inherited genetic abnormality found most often in persons of Ashkenazi Jewish ancestry. The carrier gene for the disease is found in an estimated one in 40 Ashkenazi Jews, according to the Canavan Foundation.
Children born with the disease have a genetic mutation that leads to the deterioration of white matter in the brain. They usually can’t sit or walk, and are expected to lose the ability to see and swallow, eventually becoming paralyzed.
Babies with Canavan aren’t expected to live past their first decade, but the Ilinetskys are hoping that a new, experimental gene therapy will help the babies ward off the effects of the disease — if they can raise the $2.5 million they say is needed for both babies to participate.
“The fact that they both have it is crazy,” their mom said. “And it’s just double everything.”
When she took Yoel to Kaiser at 3 months, she wasn’t sure what the problem was.
“Every baby develops at their own pace,” she said. “I wasn’t paranoid, but alarmed enough to check it out.”
An MRI found brain damage and Yoel eventually was diagnosed. But his sister, Yael, seemed fine — bright and alert as a baby should be.
Ilinetsky and her Israeli-born husband now know they are both carriers of the gene mutation. When that is the case, each child of those parents has a 1 in 4 chance of being affected by the disease. But because the twins are fraternal, the odds were decent that Yael didn’t have it. But, unfortunately, she too was diagnosed as positive.
“You hear the news once and it’s absolutely crushing,” Ilinetsky said. “You hear it again, it’s like cutting up a wound again.”
There is no cure for Canavan, only physical therapy to help sustain movement. But cutting-edge research using gene therapy has shown promise, including a new technique using viruses to deliver targeted genes direct into the brain to replace the mutated ones.
That’s the sort of research the Ilinetskys are hoping will help their children. An experimental therapy trial is set to start in the summer of 2019 under Dr. Paola Leone of Rowan University in New Jersey, but the Ilinetskys say they will have to pay upwards of $2 million. That includes the brain surgery itself and the delicate gene therapy, as well as testing and things like bloodwork and MRIs — all multiplied by two.
While she’s trying to raise the money and waiting for the trial to start, Ilinetsky is taking the twins to daily movement therapy at the Anat Baniel Method Center in San Rafael; based on the Feldenkrais method, the Israeli therapy is designed to increase brain plasticity.
“Kaiser only wants to give them therapy once a week, physical therapy,” Ilinetsky said. “That’s nothing.”
Although the therapy can’t cure the twins, Ilinetsky said it helps them maintain what they have, makes them more alert and stimulates their brain development.
“What? You just watch them degenerate?” she asked rhetorically. “No!”
Babies born with Canavan may seem normal at first, but as the brain degenerates they soon fall behind in developmental milestones, like sitting. Most never walk. Yoel has deterioration of his optic nerve, which is why Ilinetsky noticed he couldn’t fix on objects the way his sister could, and he also has seizures.
Canavan is one of the lesser-known rare diseases attached to the Ashkenazi genome. The website of the Canavan Foundation notes that “thanks to the success of ongoing screening programs in the Jewish population, most of the children born with Canavan disease today have no known Jewish heritage.”
The Ilinetskys, however, were not tested before the birth of their twins; Gabi Ilinetsky said that testing for specific Jewish diseases wasn’t really pushed by Kaiser, although it was mentioned in an email.
“My OB didn’t ask me; she knows I’m Jewish,” she said.
In a statement to J., Colleen McKeown, senior vice president for Kaiser Permanente in Walnut Creek, remarked: “We follow recommendations of the American College of Obstetricians and Gynecologists (ACOG) and American College of Medical Genetics (ACMG) and offer Canavan testing to individuals who identify during screening that they are of Ashkenazi Jewish descent.”
Until the gene therapy trial starts, Ilinetsky, who lived in Israel for a couple of years after graduating from UC San Diego in 2013, is doing what she can to advocate for her children, while her husband keeps working to support the family. It’s not something she signed up for, but she has no choice but to keep pushing, not for a diagnosis anymore, but now for money to enroll the twins in the trial.
“You have to wear the hat of a medical professional, you have to wear the hat of an advocate, you have to wear the hat of a lawyer,” she said. “And now, fundraiser.”
Paying to participate in trials is a common burden for families who have children with rare diseases; where the number of patients is low, there’s no grant money for research and families take over paying for new therapies.
The Ilinetskys will keep promoting their GoFundMe page, which, as of Jan. 7 had raised $195,500 from close to 2,300 people through its first 15 days online.
The moneys are going into a fund administered by Chabad of Contra Costa, but will be available to the Ilinetskys for medical costs, according to Chabad Rabbi Dovber Berkowitz, who hopes the campaign will go viral. It was classified as “trending” as of late December, shortly after a brief Jerusalem Post piece on the Ilinetskys and a New York Daily News article that featured the campaign under the headline “As border wall GoFundMe rakes in millions, here are six other campaigns you should check out.”
“Back in the day, how would one person and one community reach out to 10,000 people?” asked Berkowitz, himself the father of twins.
Ilinetsky is grateful for the help, and the money raised so far, but she is clear-headed about the future.
“It’s a big amount in a short time,” she said. “But it’s a long way from our goal.”