Three new screening tests for diseases available as Jewish Genetic Disease Consortium trains more rabbis, reaches out to intermarried.

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‘It’s Not Just Tay-Sachs’
Three new screening tests for diseases available as Jewish Genetic
Disease Consortium trains more rabbis, reaches out to intermarried.

Amy Spiro

Editorial Assistant

Tuesday, May 17, 2011




Brad and Maxine Fisher with son Sam, 8 and daughter Shira, 5, who suffers from Spinal Muscular Atrophy.



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.”

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Copyright 2010 The Jewish Week


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"This book is dedicated to the health care organizations that not only raise money for research to seek cures for neeruomuscular diseases but also train and encourage health care professionals to provide the high-quality care necessary to prevent mortality while cures are being sought." - Dr. John Bach (From the dedication in Dr. John Bach's book Management of Patients with Neruomuscular Disease)

"Non intervention in fatal illness becomes a self fulfilling prophecy." - Dr. John Bach

"The phrase is apt to cause disquiet. There have been those among us who have arrogantly judged, from a vantage point of power, the value of a human life. They have made decisions based on their assessment of a person's quality of life about providing supports to sustain that life. This attitude peaked in Nazi Germany, where such decisions were used as the basis for genocide. We like to think that we have moved well beyond this perspective, but important decisions about people's lives are still being made from positions of power. Such practice is difficult to combat, especially in a period when responsibility of government in the area of human and environmental services is being cut back."- Introduction by J. David Baker (Quality of Life in Health Promotion and Rehabilitation)

"The creative spirit is not indestructible, but a courageous few discover that when in hell, they are granted a glimpse of heaven."-Anthony Storr

"The opposite of Compassion is Indifference." - Jean S. Bolen MD

"He who preserves one soul is considered as if he had preserved a whole world." (Talmud, Sanhedrin, 37A)

"To serve, to strive and not to yield." - Outward Bound

"Those of us who deal in science, even the most enlightened of us, have a strong and objectionable tendency to hubris. Hubris for scientists comes from an inadequate knowledge and appreciation of the past. Discoveries are thus made and claimed that are really rediscovered - not new advances at all, but history lessons. I have to concede priority to people who came before me. Rediscovery is every bit as good as discovery, If what is rediscovered is important and was forgotten. It is better still when the rediscovered information has the capacity to improve the lives of those around us."-From the book THE SECOND BRAIN by Michael D. Gershon, M.D.

"Throughout human history, as our species has faced the frightening, terrorizing fact that we do not know who we are, or where we are going in this ocean of chaos, it has been the authorities, the political, the religious, the educational authorities who attempted to comfort us by giving us order, rules, regulations, informing, forming in our minds their view of reality. To think for yourself you must question authority and learn how to put yourself in a state of vulnerable, open-mindedness; chaotic, confused, vulnerability to inform yourself. Think for yourself. Question authority."
-Timothy Leary

"Palliative care works with - not instead of - other treatments. It can start as soon as the family knows the child is ill. Palliative care does not mean "giving up." Good palliative care can help all seriously ill or injured children, not only those who are dying." -
When Children Die: Improving Palliative and End-of-Life Care for Children and Their Families

"What, then, constitutes medical humanism? I would suggest four core values: First is the preciousness (or sanctity) of each human life. The second value is respect for human dignity. The third core value of humanism is the celebration of human diversity. Finally, the fourth core value of medical humanism is a sympathetic appreciation of the complexity of the human condition- how difficult it is for anyone to meet all of society's idealized expectations regarding individual and interpersonal behaviors, and how history and circumstances have conspired to make it especially difficult for some."~ The physician-scientist, the state, and the oath: Thoughts for our times Barry S. Coller

Medical Suppliers Profitting Off Terminally Ill Chidren - The Rotten Vermon Stench Of The Medical Supply Business

THE COST OF BEING SICK by Brad Fisher

Most healthy people do not realize or understand the perils caregivers and patients must deal with on a day to day basis. You think that if you get sick you will be cared for. Here in Canada we have a socialized system of medicine. Don’t think for a minute we aren’t paying for this medical because we have very high taxes and these taxes pay for our medical. While our system is socialized patients with very complex needs are not having these needs all met. Our daughter has a life threatening condition called Spinal Muscular Atrophy Type 1. While our daughter is physically immobile she has 110% cognitive function and can communicate but this article is not about my daughter’s illness as much as it is about medical suppliers and the system.

Since our daughter’s diagnosis I have noticed the incredible cost of medical devices for children with life threatening disease and other children with disabilities. What gets me is how prices of equipment and supplies don’t get any less expensive even while our dollar keeps rising close to parity with the U.S. dollar. I’ve noticed just looking on line that the cost of items is in many cases 30-60% less than suppliers are selling them for here in Canada. Because I was once in the retail business I completely understand how retail operations purchase from manufacturers and distributers. I know that items a retailer purchases cost less when they purchase in bulk or just have an account with a supplier or manufacturer. Then retailers turn around and sell items at the manufacturers suggested retail price which can often times be 40 to over 100 percent more than the retailer paid for these items. I understand people have to make money that is what business is all about.

What about these businesses that supply the government or in our case our socialized medicine? Why is it that the government who routinely does not cover 100 percent of the cost of items for our daughter, that have to be additionally funded by charities, cost more than when our dollar was 40 percent less than the U.S. dollar. Why does our government or socialized medical prefer to pay a local supplier sometimes 50% more for an item because they want service vs. paying 50% less from a supplier in the states thereby not forcing families to seek additional funding from charities to purchase equipment for their children!

If we look deeply into the business practices of our provincial government purchasing from local medical suppliers I guarantee we will uncover graft, over billing, and cheating on every level. I see medical suppliers as vermin feeding off profits made from sales to families with terminally ill children not caring if the item exceeds the programs allowable funding knowing full well charities will cover the rest. Yes I believe in business and profits but when government health programs are not paying the full share of the cost of equipment thereby making the public pick up the tab over and above the taxes we pay through donations to charities you have to stop and ask why? Who is in charge? Why is there no accountability? Why is the government denying equipment and other services or only funding portions of them? Why is the government paying too much for products?
I have done some comparison shopping recently on a piece of medical equipment our daughter needs and found the government could save almost $2000.00 purchasing the item in the U.S. The argument the government has is what if we need to service the item. Even if the item had to be serviced and paid for it would still be less expensive than buying from local retailers not taking the high dollar into account. Government medical contracts do not create competitive pricing. The lack of competition in Canada has bred an environment of suppliers feeding off the people that need the most help. It’s time for our government to step in and oversee purchases made and what these suppliers are doing so that children with life threatening illness are not denied equipment needed to improve their quality of life. It’s just not right that people need to go to charities to raise money to buy medical equipment while medical suppliers laugh all the way to the bank on the backs of children with life threatening illnesses, the elderly and the challenged. Shame on you medical suppliers; How do you look your children in the eyes knowing your pricing may get a child denied a much needed piece of equipment that has a life threatening illness and shame on the government employees not standing up to bad policy!! Shame, shame, shame on you!

What Is a Life Worth? Research on the cost-effectiveness of medical treatments pits our emotions against our pocketbooks.

What Is a Life Worth?
Research on the cost-effectiveness of medical treatments pits our emotions against our pocketbooks.

By Sharon Begley | Newsweek Web Exclusive

Feb 5, 2010

This is the kind of news that unleashes hysteria about "death panels" and "health-care rationing," but here goes: an analysis of genetic screening for an incurable, untreatable disease called spinal muscular atrophy shows that it would cost $4.7 million to catch and avert one case, compared with $260,000 to provide lifetime care for a child born with it. So here's the question: do we say, "Damn the cost; it is worth any price to spare a single child the misery of being unable to crawl, walk, swallow, or move his head and neck"—or do we, as a society, put on the green eyeshades and say, "No, sorry, we can't afford routine screening"?

Just to be clear, this is not about comparative-effectiveness research, which analyzes whether treatments work and which ones work best, without regard to cost. In contrast, studies of cost effectiveness, like this one, take something that works and ask whether the cost is worth the benefit. There is no question that screening for the genetic mutation that causes spinal muscular atrophy works, in that screening detects the mutation in 95 percent of those whose DNA has it. If a couple decides not to conceive (if they were screened before trying to start a family, they can instead use donor sperm, for instance), to implant only healthy embryos (if they are using in vitro fertilization), or to terminate the pregnancy, then a child with SMA is not born.

The study presented Thursday at the Society for Maternal-Fetal Medicine’s annual meeting starts from this "screening works" premise. What, asked Sarah Little of Massachusetts General Hospital and her colleagues, would be the costs and benefits of universal screening?

Here's the numbers-heavy paragraph. One in 50 Americans carries an SMA mutation. Because carrying one copy of the mutated gene causes no symptoms, people don't know if they're carriers (though having relatives with SMA should raise suspicions). If two carriers conceive a child, however, there is a 25 percent chance the child will have SMA, which is the most common genetic cause of infant mortality. About 1 in 10,000 babies are born with SMA. Of those children, 70 percent have a severe form of the disease, in which newborns are limp and floppy, cannot lift their heads, and have difficulty rolling over, sucking, and even swallowing. Universal screening detects 95 percent of carriers, and 2 percent of babies born with SMA have the disease even though neither mom nor dad is a carrier (the gene mutated after conception). Screening costs just over $400 and lifetime care for someone with severe SMA costs $260,000. For an individual, that seems like a great deal. But throw all of this into a calculator for society as a whole, and the answer is this: 11,000 women would have to be screened to prevent one case of SMA, at a cost of $4.7 million per case averted.

Since the $4.7 million cost of averting one case of SMA swamps the cost of having a child with SMA, the brutal conclusion is that "screening everyone for SMA is not cost-effective," concluded Little and her colleagues. Only in people with a high risk of the disease, such as those with a family history of SMA, might it make sense.

Screening for SMA has been controversial for years. In November 2008, the American College of Medical Genetics recommended making carrier screening for SMA available to all families. But last May, the American College of Obstetricians and Gynecologists came out against preconception and prenatal screening for everyone, largely because you would have to test so many couples to avert a single case of SMA. The appeal of screening for genetic diseases seems obvious, however, and new companies are springing up to give parents-to-be the assurance they want.

So here's the issue. What if an insurer or (horrors!) "Obama-care" refused to cover SMA screening because it is not cost-effective? Judging by the hue and cry over the very idea of using cost-effectiveness to make coverage decisions (something that was never in any of the health-care bills), millions of people would be appalled—especially once the first SMA baby was born after his parents' insurer refused to pay for a genetic test. Unconsciously or implicitly, then, many of us are in favor of paying $4.7 million to let a couple know that their fetus has SMA. But as we've seen in the public hostility toward health-care reform, there is deep ambivalence about how much of our hard-earned money we are willing to spend to avert preventable deaths in people who die because they do not have health insurance. For many Americans, that answer seems to be "not one dime." It's the old story: we respond to specific cases of tragedy when they come with a name and a face, but grow cold and uncaring when the unfortunate are nameless masses.

More such cost-effectiveness analyses of various medical treatments are in the works. The question is, how will American doctors, insurers, patients, and others use the information? Research has already shown that digital mammography, for instance, is not cost-effective compared to plain old film mammograms, but because of the power of breast-cancer groups, insurers have been loath to tell patients, "no, sorry, not worth it." And when Britain uses such analyses to decide what its National Health Service will pay for, Americans go crazy. (This fear is the basis for the false claim in ads featuring former surgeon general C. Everett Koop that he, as a 93-year-old, would not be allowed to receive a pacemaker or joint replacement under the British system.) At least the Brits apply the guidelines about what a life is worth consistently.

Sharon Begley is NEWSWEEK's science editor and author of The Plastic Mind: New Science Reveals Our Extraordinary Potential to Transform Ourselvesand Train Your Mind, Change Your Brain: How a New Science Reveals Our Extraordinary Potential to Transform Ourselves.

Find this article at http://www.newsweek.com/id/233123