‘It’s Not Just Tay-Sachs’

When Shira Fisher was just 4 months old, her parents already knew that something was wrong. She had frequent problems with choking and serious “physical developmental delays,” said Brad Fisher, Shira’s father and full-time caretaker.

Her parents brought her to several different doctors, before she was finally diagnosed (with the help of Brad’s Internet research) with Spinal Muscular Atrophy, Type 1. SMA affects the motor neurons that control voluntary muscle activities, like walking and swallowing, and causes their degeneration. Cognitive abilities are generally not affected.

At the time of Shira’s diagnosis, “we’d never heard of it,” said Fisher, who was told by doctors that Shira had little chance of surviving past the age of 2, and that he — and mom Maxine and big brother Sam — should “take her home and love her.” The family refused to give up, pursuing experimental treatment and therapies, and Shira will turn 6 next month.

The Fishers did no genetic screening before getting married or having children. “It wasn’t on our radar,” Brad said. But today SMA is one of three new diseases recently added by the Jewish Genetic Disease Consortium to a growing list of conditions for which Jews should be genetically tested.

The JGDC now recommends that any couple in which one member has an Ashkenazic Jewish grandparent be tested for 19 separate conditions, up from 16 last year. When the organization was launched six years ago (though Jews had been tested for years before it began), it recommended testing for 11 disorders. Over the past six years, that number has grown as new screenings and tests became available. New to the list are SMA, Joubert Syndrome Type 2 and Walker-Warburg Syndrome. These diseases are not newly discovered, or recently linked to the Ashkenazic population. But since screenings for the genetic mutation for all three only became widely available this year, the JGDC is now cautioning Jews and others to take advantage of the tests.

While the medical advisory board “has known about these diseases” for a while, said Randy Yudenfriend-Glaser, chair of the JGDC, “unless you can screen, there’s nothing to do.” She also noted that couples who have been screened in the past, and are planning to have more children, should get re-tested for these disorders. And she wouldn’t rule out the list of recommended tests growing in size. “It’s never going to shrink because the diseases don’t go away,” she said. “People think we’ve wiped Tay-Sachs out of the population, but we haven’t; we’ve tested it out.” Carriers of the disease are still common in the population. The medical advisory board of the JGDC bases its decisions “on carriage rate, but also on the severity of disease,” said Yudenfriend-Glaser.

Randi Chapnik Myers knows firsthand just how devastating Walker-Warburg Syndrome can be. She and her husband were screened for Tay-Sachs before having children. When their first pregnancy, in 1995, ended after doctors said the baby would not survive beyond birth, they thought it was a fluke. And after having two healthy children, the Toronto family never imagined the problems that would ensue. Chapnik Myers lost twin babies in 2000, and then a third the next year. Doctors made a diagnosis of Walker-Warburg in two of the three fetuses. “Not only had I never heard of it,” said Chapnik Myers, “I was told after my first loss that it wasn’t genetic.”

She hopes that the new availability of screenings can help other women avoid her pain. “Having to wait until 20 weeks to be diagnosed, having a formed fetus growing inside of you, a human being, and moving in to maternity clothes and planning for a child” was incredibly difficult, said Chapnik Myers. “Going through seven deliveries for three children [the third child was born after all of the losses] was a strain emotionally and very physically.”

Since 2005, the JGDC has been reaching out to families, through its community outreach program, and to physicians, with its Medical Grand Rounds Program, hoping to spread awareness of the need for genetic testing in the Ashkenazic Jewish community. Last fall, as reported in this paper, the JGDC launched its Rabbi Education Program, aimed at urging rabbis to discuss genetic screening with couples during pre-marital counseling.

“[It] was the missing link which really rounds out our program,” said Yudenfriend-Glaser. To date more than 150 rabbis across the tri-state area have attended a seminar run by JGDC, and signed a “rabbi pledge,” promising to discuss genetic diseases with young couples.

Recent training events include sessions in Buffalo and Monroe, N.Y., as well as at the Jewish Theological Seminary earlier this month. JGDC is working on developing an online system for rabbis to be trained. Those who already took part in the sessions will receive updated information about the newly added diseases.

The JGDC’s goal is to combat the major misconceptions about Jewish genetic diseases — one of which is that intermarried couples don’t need testing. To that end they are also developing means to reach interfaith couples to raise their awareness.

One of the messages the JGDC deems most important is, “It’s not just Tay-Sachs,” said Yudenfriend-Glaser. Even as she tours synagogues and Jewish centers today, Yudenfriend-Glaser encounters people who are unaware of the dire necessity for genetic testing. She met with a rabbi this year “and he told me, ‘we don’t have any of that in our lineage.’ I did a double take,” she said. “You hear this from educated people; they really don’t realize how much is out there.”

Most importantly, she said, “people need to be advocates for themselves. They should go in armed with a list of the tests and say this is what I want done.”

Read more about Shira Fisher at asonginthisworld.com and learn more about the work of the JGDC at jewishgeneticdiseases.org.