Much hope despite many challenges


How do you overcome a life of disability and immobility with a smile and an internal light? You hold a belief in the goodness of people, a hope for the advancement of treatments, and a dream that a cure is within reach. You keep an open heart and an open mind because, otherwise, you can end up in a dark state of depression and stagnation.

I suffer from Late Onset Tay-Sachs (LOTS), a neuromuscular disease affecting the central nervous system. LOTS can be difficult to diagnose and is often mistaken for ALS, muscular dystrophy, multiple sclerosis or Parkinson’s disease.

I was diagnosed when I was about 21 years old. My parents are both carriers of the LOTS gene, and I inherited this newly recognized strain of what had always been thought of as a fatal, infant’s disease.

I am now 42 years old, yet my mobility and quality of life are comparable to that of a senior citizen.

How does it feel to live with Late Onset Tay-Sachs? In light of this being Jewish Disability Awareness and Inclusion Month, I’ll offer you a glimpse into my reality:

I use a walker but feel lucky that I am not limited to a wheelchair, as most people affected with LOTS are less mobile. Much of the time I am off-balance. I have fallen several times, resulting in broken toes, a broken ankle, scrapes and bruises. I have trouble getting up from chairs.

I need to use ACCESS, a special transportation system in California for the disabled, which has lifts or ramps on its vehicles to accommodate walkers or wheelchairs.

Having LOTS has made it extremely challenging to find employment. Every time I go into a job interview, I feel discriminated against and don’t feel qualified for the position because of my disability. I am well educated — I have a master’s degree in business — but LOTS affects my fine motor skills, making it difficult to do the typing necessary for most jobs. Bending down is also a problem. Imagine all the daily things at work requiring you to do something as menial as bending down to pick something up or getting something from a lower shelf.

The progression of my weakness has been harder to ignore in the past few years, but with exercise and will, I am trying to combat it. I attend physical and aquatic therapy four times a week, where I strive to maintain the strength I have left.

I have been in the hospital more than once for issues related to bipolar episodes, a symptom that affects about 40 percent of the people who suffer from LOTS.

I have suffered from a speech impediment since I was a young boy, which has made it difficult to give speeches or to be understood over the phone. Even the latest dictation machines that type for you don’t want to listen to me. I have taken speech therapy for years to no avail.

Housing is also a major issue. Any steps or curbs at a residence are problematic. If there is a second story, forget about it. I also must consider the proximity of restaurants, grocery stores, banks and pharmacies because of my need for transportation and assistance with chores. In addition, I need the bathroom to have a handrail on the wall that I can use to help me get off the toilet. 

While I am trying to live a “normal” life, being so abnormal in so many areas has been very disheartening. The simple things in life that people take for granted are a constant struggle. I wish I could get up and run over to a friend’s house when they have people over to watch a game without wondering how I will get there. Do they have steps at the house? I can’t have ACCESS take me everywhere, so do I call Uber and will it be handicap accessible? Where do I put my walker? I have difficulty bringing food or a gift for the host, so do I show up empty handed? Ugh! 

A big problem with my rare disease (about 1 in 63,000 people in the U.S. and 1 in 14,000 in Israel have LOTS) is that there is not a treatment or cure. But, there is always hope and a dream for one.

My family has started the nonprofit Late Onset Tay-Sachs Research and Education Foundation to raise funds and awareness that can help researchers find treatments and cures for this terrible disease. But the months of grueling work organizing fundraisers and paying money to update our foundation’s website (lateonsettay-sachs.org) have been a challenge.

Hope involves having the strength and passion to survive and live life to the fullest. Anyone who is sick or well should live by this mantra. Smiling is very important as well, as is being truly present in the moment, since no one knows their future.

Let your heart be open and generous. And strive to be better, more tolerant, more compassionate, more aware, more appreciative, more philanthropic — more alive!

ERIC PASTOR has been battling Late Onset Tay-Sachs for more than 20 years and vows to never give up.

Need for genetic testing raised by new initiative GeneTestNow


Significant advances in science enable us to no longer question what’s in our genes. This is especially important for Jews, who are far more likely to be carriers of certain genetic diseases than the general population. 

Education and awareness about genetic screening have been spreading throughout the nation and the December 2012 launch of the Web site “>victorcenters.org.

How much does it cost? Insurance companies often dictate the price tag for genetic screening. Some won’t offer a covered benefit until a woman is pregnant, since there is no liability until this point and testing earlier is considered a waste of resources. Costs can range from as little as $99 to thousands. 

Is a salvia test a good genetic screening? To eliminate all risks of being a carrier of Tay-Sachs disease, you should request to screen for DNA and enzymes, which can be done only with a blood test. Otherwise the test will screen only for DNA mutations, which misses a small percentage of carriers. 

Should I get rescreened before having another child? Hold on to your test results. It isn’t a matter of rescreening, but of updating your screening as technology advances and more information becomes available. In 2005, the Jewish panel of diseases covered only nine genetic diseases. 

Are online genetic screening tests sufficient? Direct-to-consumer testing might not provide counseling services, which are strongly recommended. To ensure the quality of testing, laboratories should be properly certified. The Center for Medicare and Medicaid Services regulates lab testing through the Clinical Laboratory Improvement Amendments (CLIA). Check to make sure the screener is CLIA approved. 

Consider purchasing life insurance first. Test results from genetic screening could make it difficult to buy life insurance, disability insurance or long-term-care insurance. Although, Congress passed the Genetic Information Nondiscrimination Act of 2008 to protect Americans against discrimination based on their genetic makeup from health insurers or employers, not all types of insurance are included. 

Is cutting Big Bird kosher?


When Governor Mitt Romney talked about ending funding for PBS – and Big Bird – during his first debate with President Obama, he was describing only one of the deep cuts in Romney-Ryan budget.

But it’s not just Big Bird. And it hits us hard, at home, in the Jewish community.

Governor Romney’s budget plan would affect us – dramatically. Calling for unprecedented budget cuts, a Romney Administration would negatively impact the elderly, the disabled, the poor, and yes, Jews who span each of these categories and more. As a community committed to tikkun olam, bettering the world, we have a responsibility to protect those in our community as well as those outside it and voting for a Romney-Ryan ticket would make that virtually impossible.

Jews across the country rely on federally funded social services every day. Just ask the thousands of the elderly living in Section 202 housing, a program run by the U.S. Department of Housing and Urban Development used by both the Jewish Federation system and the Metropolitan Council on Jewish Poverty to provide house assistance to low-income seniors. Or what about seniors who benefit from Supplemental Security Income (SSI), without which we would be “leaving our most vulnerable residents behind,” the Hebrew Immigrant Aid Society told Congress in 2010.

Federally funded social services are not just relegated to the elderly. One program that the Jewish Federations of North America helped pioneer is the Emergency Food and Shelter Program, an extension of the Federal Emergency Management Agency and a program developed to supplement the work of local social service organizations who serve those in need of emergency assistance. This program, which helps hundreds of thousands of low-income individuals across American, Jewish and non-Jewish, has been threatened ever since Republicans have taken control of the House.

And the Special Supplemental Nutrition Program for Women, Infants, and Children (WIC) – a program designed to provide nutritious food and other services to low-income pregnant and postpartum women, infants, and children under the age of five – has slowly been chipped away at since Republicans took over the House in 2011. According to the non-partisan Center on Budget and Policy Priorities, proposed cuts to the program in the fiscal year 2012 appropriations budget would result in over 700,000 eligible low-come women and children being turned away. Cuts to programs like these are guaranteed to increase under a Romney Administration.

What’s more, those benefiting from federal funds are sometimes the last people you would suspect. What about those among us suffering from Tay-Sachs, which almost exclusively occurs among Jews, and Crohn’s Disease, which disproportionately impacts our community. In 2009, the National Institutes of Health (NIH) awarded a $3.5 million four-year grant to the Tay-Sachs Gene Therapy Consortium to aid in research of therapies for the disease. And according to the NIH, Crohn’s disease research received grants totaling $67 million in 2011. Think these are important? Well Congressman Ryan does not, as his budget demonstrates by cutting funding for biomedical research by NIH, which would result in fewer and fewer grants each year.

In the 2012 Jewish Values Survey conducted by the Public Religion Research Institute, 72% of respondents listed tikkun olam as important in shaping their political beliefs and actions. The Jewish community feels a responsibility to better the world and many support the use of federal funds for social services to accomplish this gain. But we forget that many in our own community not just use but desperately need these funds – funds that would most likely be cut or drastically reduced if Governor Romney were to become president.

We, as a community and as citizens of the United States, cannot afford a Romney Administration. We want to better our country, not make it worse for those who need help the most. President Obama and his administration’s policies have embodied this tenet of our religion, helping those in need and gaining my vote.

And when it comes these kinds of draconian cuts to much needed social service programs, the Romney-Ryan budget is definitely treif.


Marie Abrams, Lynn Lyss, and Andrea Weinstein are all former chairs of the Jewish Council for Public Affairs (JCPA), the united voice of the organized Jewish community.

Persian Tay-Sachs


In the story, a young prince in an old and distant kingdom is mesmerized with salt.

The prince loves the taste of salt on his tongue, the dryness of it on his skin. He loves the way the grains catch the light as they slip through his fingers like so many tiny pieces of glass on a sun-bleached day. While all the other children in the kingdom are doing what children do, the young prince indulges his fascination with salt. He’s so busy with his adoration, he forgets to grow and yet, even in adulthood, he cannot stop the craving for salt.

Disconsolate over his son’s plight, the king falls ill. In his white palace with emerald windows, his grand wizard, when called upon, ordains that to heal, the king must fall sleep and dream of beauty and youth and conquest. The king dreams he’s young again; he stands in a field of wild grass, watching a beautiful maiden with golden locks run toward him from the edge of the horizon. She’s a fast runner with a graceful step, so light on her feet, he wonders if they ever touch the ground, but the closer she comes to the king, the more slowly she runs. He watches as her gait becomes uneven and her legs fold and she falls to the ground. When it’s time for him to wake up, the king cannot bring himself to abandon the injured and struggling maiden in the grass. The grand wizard calls him; the queen and the prince beckon him; the king will not wake. 

Years ago, in “Cry of the Peacock,” I wrote the story of my own family and of other Iranian Jews I had known or been told about. Most of what I wrote was real, but when the book was published the reviewers evoked terms like “fairy tale” and “magical realism.” I didn’t know what magical realism was, didn’t think I had written a fairy tale. If anyone asked, I tried to explain that what seemed “magical” to the Western ear was just a whole lot of “realism” in the East.

In the land of the slumbering monarch, the queen summons her husband’s army and enjoins them to search the land for a spell that will rouse him from sleep. The bravest of all these men, two brothers, go farther and look more assiduously than all the rest. Everywhere they stop, they tell the story of the boy who won’t grow and the king who won’t wake, and they even tell about the maiden in the king’s dream, how she could outrun the goddess Atlanta until she was betrayed by her own limbs, but no one can help. At the last hour of the last day of their quest, the two brothers encounter two wise men who have come to the kingdom from distant shores, and who claim to have the spell.

I wrote a second book about real events in real people’s lives, and I even wrote a third — this one about all the “magical” things that happen in the far and forgotten corners of these United States — and still, I couldn’t convince most people of the veracity of so much of what happens in the books. Nor did I have a logical explanation for the disconnect. All I knew was that, left alone and forgotten for 3,000 years before they immigrated to the West, Iranian Jews had seen the world become, like Alice’s Wonderland, “weirder and weirder.”

At the palace with the emerald windows, the two wise men draw the king from his sleep and free the prince of the curse of the sorcerer’s salt. And though they cannot save the girl with the faltering gait, they vow to deliver the kingdom of all its unusual maladies. The two wise men have rid other kingdoms of other strange and devastating curses, and they know they can do it again. All they ask for in exchange is a drop of saliva and a tin coin from each of the king’s subjects.

In the late 1990s, two young Iranian Jewish physicians announced the existence of an illness that may be unique to Iranian Jews. At first, hardly anyone believed them. Later, most people thought that even if such an illness did exist, it was so rare as to be irrelevant to the general population. In 2001, Hadassah University Hospital in Israel announced the discovery of a gene that, in its mutated form, can cause a progressive muscular disease that attacks the individual in his 20s; it begins with a weakening of the leg muscles and gradually spreads through the body. The illness is called hereditary inclusion body myopathy, or HIBM. One in 20 Iranian Jews is a carrier of the gene.

Other recessive genetic disorders in Iranian Jews were soon identified: a sensitivity to some forms of anesthesia that can result in death (one in 10 is a carrier); a salt-losing disorder that causes great craving for salt and, if untreated, short stature (one in 30 is a carrier); a hormone deficiency that can lead to, among other ailments, diabetes mellitus type 1 (one in 50 is a carrier).

Although gene mutations exist in every ethnic and racial group, they are more common, and therefore easier to find, in isolated societies with a history of intermarriage. Among Ashkenazi Jews, Tay-Sachs disease was the evil giant that remained latent in a person’s body until he or she produced a child with a partner who was also a carrier of the gene. Tay-Sachs was eliminated in the Ashkenazi population thanks to genetic testing and premarital counseling that were a result of the efforts of two of the world’s leading geneticists, Dr. David Rimoin and Dr. Michael Kaback.

The two wise men stand at the gates of the white palace ready to save the denizens of the old and distant realm. They wait, but no one comes. Bewildered, they send couriers and emissaries into the heartland and repeat their pledge. They sound the bells and call from the highest towers and still, no one answers.

Forty years after spearheading the Tay-Sachs project, Drs. Rimoin and Kaback undertook the task of eradicating Iranian Jewish genetic illnesses. At the Cedars-Sinai Medical Genetics Institute, under Dr. Rimoin’s leadership, Iranian Jewish couples who are planning a family can be tested to make sure they’re not both carriers of the gene; if they are, they can guard against having children who are affected by one illness or another by undergoing in-vitro fertilization and choosing not to implant the defective embryos. Parents with small children can detect some illnesses in time to treat them. And even older people can alert their physicians of their sensitivity to some anesthesia medicines. Testing is entirely confidential, and by law, insurance companies cannot deny coverage or raise rates based on test results. The test costs $350 and requires only a few drops of saliva.

And yet, in the two years since a thousand Iranian Jews were tested under the pilot program at Cedars-Sinai, the phones at the center have remained quiet and few requests have been made for testing. Many Iranian Jews have yet to learn about the diseases or the fact that the genes have been identified. Many fear that by speaking openly about the illnesses and the testing, the community would expose itself to adverse reactions from Ashkenazi Jews. Many do not have the $350 to spare. So far, the dozens of religious and cultural organizations, the nonprofits and all the individual donors who have raised so much for, or given so generously to, one Israeli cause or another, have not been called upon to publicize the testing or finance it for families in need of help. Like the two wise men in the fairy tale that could just as easily be true, Dr. Rimoin and his colleagues at Cedars-Sinai are standing at the gates of our ancient kingdom, ready to break the spell and free us of the sorcerer’s curse.

A hundred years from now, if someone were to write the story of Iranian Jews in Diaspora, the existence of such gene mutations would no longer seem fictional. Nor would the ability of science to eradicate them as it did Tay-Sachs among Ashkenazi Jews. What would seem unreal is if we fail to seize this chance to save ourselves and our children from a fate that, for all its mythical veneer, is bitterly and irreparably real.

For more information on the Persian Jewish Genetic Screening Program, call (310) 423-4461, or visit www.csmc.edu/medgenetics.

Gina Nahai is professor of creative writing at USC. She can be reached at ginabnahai.com.

Dramatic progress in in-vitro detection spurs new push for Ashkenazi Jews to do genetic disease test


Susan and Brad Stillman grew concerned following their son Benjamin’s birth in September 1998. He was fussy and congested, had difficulty breastfeeding and didn’t take to the bottle.

The parents brought him to the pediatrician and then to a hospital pediatric care unit near their home in Rockville, Md., a suburb of Washington.

Benjamin soon was diagnosed with Riley-Day syndrome, now called familial dysautonomia, a genetic disease of the autonomic nervous system that disproportionately strikes Ashkenazi Jews.

When the Stillmans got married in 1995, they were tested for Tay-Sachs disease, the only genetic disease prevalent among Ashkenazim for which screening was available, and neither parent was found to be a carrier or to have the disease.

“Ignorance was bliss,” Susan Stillman said. “We had no idea we were carriers for FD.”

Today, tests are available for 19 chronic conditions that are known as Jewish genetic diseases, including familial dysautonomia. Testing capabilities have risen dramatically: Just one year ago, individuals could be tested for 16 conditions; in 2009, the number was 11. Among those conditions, in addition to FD and Tay-Sachs, are cystic fibrosis, Gaucher disease, Canavan disease and Niemann-Pick disease.

Organizations dealing with Jewish genetic diseases are intensifying their efforts to educate Ashkenazim of childbearing age about the need to be screened for all 19 conditions with a single blood test, and to update tests that have already been conducted. The experts view this as a serious communal health issue, with one in five Ashkenazim estimated to be a carrier of at least one of the 11 diseases that could be tested for in 2009.

A study by New York University’s Mount Sinai School of Medicine in Manhattan found that significant numbers of New York-area Ashkenazim —one in every 3.3 — are carriers of at least one of the 16 diseases tested for last year.

A carrier rate of one in 100 for an individual disease would be “of concern,” said Dr. Adele Schneider, director of clinical genetics at Philadelphia’s Victor Centers for Jewish Genetic Diseases.

As with any genetic disease, when both parents are carriers, each of their children will have a 25-percent likelihood of being affected; the more diseases for which each parent is a carrier, the greater the odds of the children being affected.

“If you and your spouse find out that you’re carriers, you may not want to take that one- in-four chance,” said Karen Litwack, director of the Chicago Center for Jewish Genetic Disorders. “It’s a terrible ordeal for parents to go through. From a Jewish community standpoint, there’s a general consensus that education and outreach will, hopefully, prevent this kind of thing from happening.”

Experts in Jewish genetic diseases are seeking to promote awareness of the potential problems, because screening before a pregnancy can offer options for preventing or dramatically reducing the chance of a child being born with a disease. The four main alternative options are utilizing a sperm donor; utilizing an egg donor; pre-implantation genetic diagnosis (in-vitro fertilization of the mother’s egg, analysis of the embryo, and implantation only if the embryo is healthy); and even aborting a fetus affected by both parents’ disease-carrying genes.

“Screening is protecting future generations,” said Randy Yudenfriend-Glaser, who chairs the New York-based Jewish Genetic Disease Consortium. She is the mother of two adult children with mucolipidosis type IV, one of the known Jewish genetic diseases.

“When you’re young and getting married, you don’t want to know about it because it’s scary,” she said. “But you should want to know about it.”

Experts also emphasize the need for each carrier to be screened prior to each pregnancy to account for additions to the screening panel in the interim.

Several organizations are expanding their outreach to rabbis and Jewish communal leaders to enlist their help in persuading prospective parents to get tested. Even doctors don’t push sufficiently for testing, representatives of these groups say.

The Victor Centers’ survey in April of 100 Atlanta-area obstetricians, gynecologists, primary care physicians and pediatricians found that only 51 percent routinely recommend preconception screening, and just 34 percent recommend updated screenings between pregnancies. Not a single respondent reported recommending screening for more than six of the 19 known diseases.

The findings were “stark” and “very worrisome,” said the Victor Centers’ national project director, Debby Hirshman.

The agency’s Atlanta Jewish Gene Screen program has secured the agreement of area rabbis to distribute fact sheets to the 17,000 congregants expected to attend High Holiday services next month.

The Jewish Genetic Disease Consortium, with the support of the New York Board of Rabbis, last September inaugurated a clergy awareness program.

Several rabbis have taken the effort to spearhead educational efforts into their own hands. Rabbi Peter Kasdan, a Reform rabbi from New Jersey who has moved to Florida in retirement, has made it a requirement that couples undergo testing before he performs their weddings. Rabbi Larry Sernovitz of Philadelphia’s Old York Road Temple-Beth Am, whose son was born with familial dysautonomia, successfully lobbied the Union for Reform Judaism to host a session on Jewish genetic diseases at its upcoming convention in Washington. Rabbi Joseph Eckstein, who lives in New York, lost four children to Tay-Sachs disease, and in the 1980s he founded Dor Yeshorim, a Brooklyn-based organization that promotes screening in Orthodox communities.

In August, the Victor Centers rolled out an iPhone and iPad application it has developed with information on Jewish genetic diseases.

The outreach efforts mean a lot to Stillman. Last week, she spoke about her situation during a panel discussion at the 31st IAJGS International Conference on Jewish Genealogy in Washington. Stillman described her son as a sweet, loving child. Benjamin, who is entering the eighth grade, plays piano and plans to celebrate his bar mitzvah in September. But he’ll always have to eat through a feeding tube and to receive daily medication.

Stillman isn’t sure if Benjamin can live independently, marry or have children.

“I don’t know how long my child will live. I can’t look too far down the road—only half the kids live to age 30,” she said of those diagnosed with familial dysautonomia. Her presentation at the genealogy conference, Stillman said, had one goal: raising awareness.

“It can happen to you,” she said. “I am a regular person. It happened to me.”

A Decrease in Vigilance


A conference on genetic diseases held by the Cultural Foundation of Habib Levy in November led The Journal to examine the Jewish community’s reduced state of awareness about genetic testing for prospective parents. During the past 30 years, large-scale genetic screening of Ashkenazi Jews in the U.S., Israel and other countries has reduced the number of babies born with Tay-Sachs, the most widely known Jewish genetic disease, by 90 percent. Yet today, younger Jews are less conscious of Tay-Sachs and even less aware of testing made available during the past five years for a newer array of genetic diseases. Geneticists and physicians confirmed that many people are not adequately informed about their genetic testing options. Regardless of their educational background, few individuals know if they fall into a high-risk category for genetically transmitted diseases. Experts interviewed maintain there has been a relaxation in vigilance about carrier screening and a consequential rise in danger signals for American Jews of Ashkenazi descent.

Dr. Dana Eisenman, a general internist with the Health Source Medical Group who spoke at the November conference, outlined some of the major genetic diseases that Jews need to be tested for: Tay-Sachs, Niemann-Pick, Gaucher, Canavan and cystic fibrosis. “Gaucher is the most common genetic disease in Jews,” he said, “but it is less well-known than Tay-Sachs. Unlike Tay-Sachs, symptoms such as anemia, bone pain and fractures don’t often show up until adulthood. For this disease there is replacement enzyme available that reverses many of these symptoms.”

Cystic fibrosis causes mucus to build up in the bronchial tubes and the digestive system to fail to absorb nutrients. “In Ashkenazi Jews,” Eiseman explained, “the carrier rate is one-in-40. As with the other genetic diseases, there is a 25 percent chance of a baby having the disease. Malnutrition and lung failure usually lead to death by the age of 30.”

Tay-Sachs and Niemann-Pick, both caused by enzyme deficiencies, result in progressive brain damage and mental retardation from infancy, with death usually occurring in early childhood. Some variants of Niemann-Pick, which causes enlargement of the liver and spleen, turn up in older children, and one type does not affect the brain.

Unless there is a family history of one of these diseases, the issue of carrier genetic testing usually arises with a decision to have children. Until recently, the only commonly available tests were Tay-Sachs for Jews and sickle cell trait screening for African Americans. Eisenman stressed that today carrier genetic testing is available for all of these diseases.

“Each cell in our body has two sets of genes,” he explained, “one set inherited from our mother, one set from our father. In most cases, only one normal gene of a pair is necessary for a cell to function normally. And so if a person has one defective Tay-Sachs gene from his mother but a normal gene from his father — one bad gene, one good gene — he will not have the disease. Now if the woman is also a carrier, each of the children of this couple has a one in four chance of having the disease.

“Through carrier genetic testing, the prospective parents can identify high risk pregnancies and then decide what to do,” Eisenman said. “Any couple should avail themselves of all the tests for these rare diseases that could affect the fetus. Most insurance plans will cover these, if you’re persistent about it.”

Later, in a follow-up interview, Eisenman said that “it’s really the diseases other than Tay-Sachs that are being ignored. I believe they should all be tested, even though the risk is maybe one in a thousand. If the mother is tested and she’s negative, then it really doesn’t matter what the father is.

“Probably the biggest threat to health resources is cystic fibrosis,” he added. “One couple came from a family of doctors, but weren’t aware of it and didn’t test for it. One in every thirty white people carry the gene of cystic fibrosis. So that is probably the most important one to be tested.”

“There’s a decreased vigilance in the Jewish community even regarding Tay-Sachs,” said Dr. Judith Tsipis, professor of biology and director of the genetic counseling program at Brandeis University. “I think that one in 25 Ashkenazi Jewish individuals are carriers of Tay-Sachs. In the late l960s, they developed a biochemical test to find out if someone was a carrier or not, and that enabled couples to make informed reproductive decisions. At that time a lot of people knew families who had children with the disease; it was very much on people’s minds.

“What has happened is that the program has been spectacularly successful,” Tsipis continued. “But the next generation no longer has that sensitivity to the issue, and they’re still genetically at risk. College students, young couples getting married, rabbis counseling couples are not mentioning the possibility of carrier testing the way they used to. And that’s a pretty disturbing trend. I certainly know of several couples who were not informed and who had children with Tay-Sachs recently.”

Screening for Canavan disease — also known as spongy degeneration of the brain — is now urgently recommended, Tsipis stressed. “Whenever Tay-Sachs is discussed, Canavan should be discussed,” she said. Canavan strikes one in 6,400 children, and there are only about 200 children in the U.S. with the disease. But once a child inherits two copies of the Canavan gene, the child’s brain inexorably deteriorates, wiping out thinking, feeling, emotions, vision and muscle control. As the disease progresses, it causes seizures, severe feeding problems, retardation and blindness. Most children die between ages 10 and 15.

Tsipis — whose son died of Canavan disease in 1998 — explained the real story is the overall lowered awareness in the Jewish community: “You don’t need to have a family history in order to be a carrier and at risk. People say, ‘Gee, I don’t need to be tested. I have no relatives with Tay-Sachs.’ But that’s not the way recessive inheritance works. It’s two families coming together.”

Dr. Ellen Knell, a geneticist at the conference who specializes in cancer risk assessment, underscored the concerns of Tsipis. “An awful lot of the young people who are of child-bearing age do not even know about Tay-Sachs,” Knell told The Journal. “When the screening program was new, everybody got screened and everyone knew about it. But when have you last heard about it? ”

Knell also pointed to the need to test for all of the five major diseases.

“The bottom line is that these diseases still happen,” she said. “The carrier rate for Tay-Sachs is the same as it has always been, and there are about eight things one can do to not have a Tay-Sachs baby. The same applies to the other diseases as well. Depending on how religious you are, you can choose prenatal detection, with the option of aborting an affected child, because three-fourths will be normal. You can choose to have a donor sperm, artificial insemination from an unknown nonspouse. If you are very religious and are against these procedures, you can be anonymously tested and be introduced to someone who is not carrying the same mutations you might have. So there’s a range of options. The important thing to me is that if you’re unaware of all this and don’t have any testing at all, you may have an unpleasant outcome that you were not aware could occur.

“Look,” Dr. Knell said. “The only two ways that you find out if you’re a carrier of an abnormal gene is one, to be tested or two, to have a child with that disease. Most people would choose not to bear and give birth to a baby that’s going to die in three to five years. This is not past history. This is something that still needs to be dealt with. People are still getting these diseases.”

For information about support groups related to genetic diseases:

National Tay-Sachs & Allied Diseases
Association, Inc.

2001 Beacon St.,
Suite 204
Brighton, MA 02135
(800) 906-8723
(617) 277-4463
http://www.ntsad.org

National Society of Genetic
Counselors

233 Canterbury Drive
Wallingford,
PA 19086
(610) 872-7608
www.nsgc.org

National Foundation for Jewish Genetic
Diseases

250 Park Ave.
New York,
NY 100ll
www.nfjgd.org

National Niemann-Pick Disease
Foundation

3734 East Olive Ave.
Gilbert, AZ 85234
(920) 563-8677
(877) 287-3672
www.nnpdf.org

The Trouble with Testing


As if we don’t have enough problems, it seems there’s an unlimited supply of horrific hereditary diseases just waiting to ensnare Jews and their children. Tay-Sachs cripples infants before their first birthday and eventually kills them, Gaucher disease erodes healthy bones and organs, Niemann-Pick, cystic fibrosis, Crohn’s, Canavan and dozens of others. And that’s just among Eastern-European Ashkenazi Jews. A host of other hereditary diseases affect Sephardic, Iraqi and Persian Jews. Does somebody up there hate us?

Not according to Dr. Jerome I. Rotter, co-director of the Medical Genetics-Birth Defects Center at Cedars-Sinai. “While the Jews are very special,” he says, “when we talk about the distribution of disease, they’re not all that special. Every population has a susceptibility to its own set of hereditary diseases.” It’s an important point to make, coming as it [did] at the conference “Genetic Medicine and the Jewish Population,” was held at Cedars-Sinai Medical Center on Oct. 24.

While science has made enormous strides in creating tools to fight the genetic diseases that afflict many Jews, the impact of those tools have a profound and intimate effect on all of us, Jews and non-Jews alike. And as a result, our society is now confronted with some of the most complex and difficult questions we’ve ever had to face.

Our genes are the code that stores all the information needed to build a human being. Occasionally, through the process of evolution, a single gene can mutate, confusing that information and rendering an individual susceptible to disease. Sometimes an individual is just a carrier, meaning he will never develop symptoms of the disease, but might pass on that susceptibility on to his children. For recessive diseases, like Tay-Sachs or Gaucher disease, both parents must be carriers, and both must pass on an abnormal gene for a child to develop the disease.

Over the last half-century, scientists have developed methods to pinpoint specific mutations on individual genes, allowing them to test individuals for genetic diseases. And although most of us are aware of this work, few of us seem to understand its profound implications: In a very real way, science can now tell the future. Suddenly, we’ve entered a brave new world of medicine, and the benefits we already reap from this new paradigm are great.

This is uniquely apparent in breast and ovarian cancer, two of Ashkenazi women’s most serious health concerns. While all women are susceptible to these diseases, Dr. Maren Scheuner, director of the GenRISK genetic testing and counseling program at Cedars-Sinai, says that when a family history of breast cancer is present, Jewish women are at a much greater risk than non-Jews of developing the disease.

While there are currently no easy cures, women who test positive for one of the genetic mutations that cause breast cancer can take steps to improve their chances of survival if the cancer does develop. “For high risk women, you’ll just have a higher suspicion and start all the screening much earlier, usually around 25,” says Scheuner. Now, most women begin screenings at age 40.

Genetic medicine’s new tools mean that we can screen entire populations to find healthy carriers of a disease and prevent that disease from spreading, eliminating the need for any treatment at all.

Dr. Kaback is intimately familiar with this process, being one of its pioneers. He began the first screenings for Tay-Sachs in Baltimore in 1969, and in Southern California in 1971. Since then, his program has voluntarily tested more than 1.4 million adults, identifying and counseling almost 1,400 couples at risk for bearing children with the disease. “These families have had over 3,200 pregnancies, and of those, 620 were Tay-Sachs-identified,” says Kaback. “With the exception of about 20 of them, the families elected to terminate the pregnancy.” Certainly, abortion is an extremely difficult decision, but many parents found it a better alternative to watching their child develop this disease by six months of age, deteriorate into mental and physical paralysis, and finally die before age 5.

It’s estimated that one in 25 Ashkenazi Jews is a Tay-Sachs carrier. Prior to genetic screening, the disease was so common among Jewish populations that hospitals across the country had special wards to care for these children. Today, only three to four Tay-Sachs babies are born in North America each year. Similar screening programs have been implemented to help prevent Gaucher disease, Canavan disease (a neurodegenerative disease) and cystic fibrosis, among other genetic diseases .

So genetic screening is wonderful, right? Not always. The process can quickly transform the most logical questions of science into sticky ethical dilemmas. Even such issues as a doctor’s responsibility become obscured. “If I know that my patient carries a certain genetic trait, he may not be at risk for that problem, but his sister may be at risk,” says Dr. Kaback. “Do I have an obligation to contact his sister? Suppose I don’t contact her, and she has a child affected with that condition. Do I have any legal responsibility in that context?”

And the questions get even more existential. “If I’m tested for a genetic trait and have it,” says Kaback. “Instantaneously the doctor who does that test knows that my brothers and sisters are at a 50 percent risk of having that same genetic trait. They know that my children have a 50 percent chance of having that trait. Who is the geneticist’s patient? Is it the client sitting across the desk, or is it their extended family? Or is it the entire population group from which that individual is derived?”

The problem is that genetic screening can tell us the future, and knowing the future is always a double-edged sword. When you screen healthy individuals, you may find a gene for a disease that won’t show up for years. “How does it affect the person’s self-image,” asks Dr. Kaback. “To know that they have a gene that’s going to possibly cause them to have cancer or mental illness or some neurological problem or heart disease later in life? How does it affect their upbringing? How many Willie Mayses or Sandy Koufaxes might never have achieved excellence athletically, if someone knew they had a predisposition to some illness later in life when they were children?”

Dr. David L. Rimoin, director of Cedars-Sinai’s Medical Genetics-Birth Defects Center, and one of the organizers of the conference would agree.

“The reality is that we can screen for every disease,” he says. “And every one of us in the population, of any population, will be found to be carriers of several genetic diseases.”

But Rimoin feels that this knowledge can do so much good, as it’s done with Tay-Sachs, that it shouldn’t be ignored. That’s why he organized the conference, and why he is trying to start a Jewish genetics center at Cedars-Sinai.