Growing From the Depths of Pain

The physician who came to see me happened to be a Persian Jew. After listening to my story and examining me, he diagnosed a rare, genetic, progressively debilitating neuromuscular disease found among Persian Jews called Hereditary Inclusion Body Myopathy (HIBM). This is a muscle-wasting disease that manifests in the prime of one’s life and can lead to severe incapacitation within 10 to 15 years from diagnosis. He then informed me that there was no known treatment or cure.

That was 11 years ago.

At that moment, everything I thought I knew about who I was and where my life was headed collapsed. Among a flood of racing thoughts, my mind kept returning to one: I guess I am not as lucky as I thought I was.

I will never believe this disease was “meant to be,” but I do believe I can find meaning in it. I have learned that if you don’t grieve for your losses, you won’t have gratitude for what you do have.

Life had always been comfortable for me. I actually used to wonder if maybe my family was immune to tragedy. How did I get so lucky? I even got to fall in love with my now husband during medical school. Everything was going according to plan. But this news? This diagnosis? This moment? This was not part of the plan. This was not the way my life was supposed to go.

It was during the intern year of my psychiatry residency when people started asking me why I was limping. I didn’t know to what they were referring. I was 29 years old and a model of good health. I’d been working out for as long as I could remember, climbed mountains from the Grand Tetons to Mount Kenya, ran the Jerusalem half-marathon and even cycled from San Francisco to Los Angeles for the AIDS Ride. I shrugged them off.

But over time, I noticed something was off. I started tripping more often. I chalked it up to clumsiness. After all, I was always rushing around, multitasking. Or maybe it was the exhaustion from 30-hour hospital shifts. Regardless, I didn’t make much of it. A year into it, however, I started having trouble running. And then trouble jogging. And eventually, I couldn’t do either.

It wasn’t until my third year of residency that I decided to investigate. My husband and I wanted to have a child. By then, even walking required effort. I bounced from sports medicine doctor to podiatrist to physical therapist to neurologist to, finally, the Persian specialist who told me I had HIBM (now known as GNE Myopathy).

Today, though I am not dying — the disease is not fatal — my muscles slowly are. Over the past 11 years, I have gone from walking with a slight limp, to wearing leg braces, to holding a cane, to using an electric scooter for long distances. I have gone from experiencing only lower-body weakness to losing a significant portion of my upper-body strength. I have had to tolerate physical and emotional discomfort in ways I never believed I could.

And yet, right alongside this journey, I also have had two kids, maintained a successful private practice and become a patient advocate — educating others about HIBM and raising awareness around what it’s like to live with a disability.

“Resilient” is not how I would have ever described myself pre-disease. I was the opposite — sentimental, sensitive, always in touch with my emotions and never good at compartmentalizing. After my diagnosis, I cried all the time. I was raw and vulnerable.

Then I realized that my perceived weakness was actually my greatest strength. I understood that strength was not about being able to “look on the bright side” or push past the pain. True strength is having a non-distorted perception of how bad it is and accepting it; locking eyes with the beast of loss and pain without turning away. Strength is being able to let in the sadness, fully and wholly, and still keep moving.

I will never believe this disease was “meant to be,” but I do believe I can find meaning in it. I have learned that if you don’t grieve for your losses, you won’t have gratitude for what you do have. If you can’t have compassion for yourself and make room for all of your feelings, you won’t be able to show up and make room for anyone else’s.

If you don’t make room to feel the depths of your pain, you won’t have room to experience the height of your joy.

Dr. Jennifer Yashari is a board-certified psychiatrist in private practice in Los Angeles.

Professor Hossam Haick. Photo courtesy of the Technion-Israel Institute of Technology

Israeli scientist has Nanose for sniffing out diseases

If there is such a thing as a science superstar, it might be Hossam Haick, professor of chemical engineering and nanotechnology at the Technion-Israel Institute of Technology, who has received major science awards from countries around the world and has attracted large donations to support his work.

Born and raised in Nazareth, he left Israel after receiving his doctorate to study in the United States for a few years, then returned to the Technion.

Haick has been working since 2007 on what he calls the Nanose, a device designed to “sniff out” cancer and other diseases in the human body, including Parkinson’s, Alzheimer’s, gastric ailments, and more.

Haick discussed the Nanose, starting with the original concept for an artificial nose.

“We know that disease has a pattern of molecules in the breath. If you can detect these molecules, then you can associate them with a given disease,” he said. “Dogs have a very sophisticated olfactory system; it’s 10,000 times more sensitive than ours. The Nanose started out as an idea to try to imitate the olfactory system of the dog — exactly on the same principles — and to make real-world applications with it. One of these applications is to smell disease through the breath.

“In our lab, we take the two main parts of the dog’s olfactory system, the receptors and the brain, and try to imitate them in an electrical way, using nanotechnology. The ultimate device is known as the Nano-Artificial Nose — the Nanose.”

The application for the Nanose has advanced since it first was used on patients.

“Initially, in clinical studies, we had success detecting advanced-stage lung cancer, and we published our findings,” Haick said. “But very soon we realized that the most important application of this technology is early-stage detection — before the patient himself or herself is feeling the disease, which is usually not until the advanced stages. And even further: If you can predict whether a healthy person is at high risk to get cancer, you can begin taking preventive measures. So right now, we are working on detecting, with exhaled breath, whether a person is at risk to have cancer in the future.”

Haick talked about what makes the Nanose different from other diagnostic tools and said, “Some advantages of our technology are that it’s portable, noninvasive and faster than the CT scan. We can detect cancer even before you can see it in the CT. Moreover, by analyzing breath, we can discriminate between different types of lung cancer, early stage from late, and most important, the benign from the malignant. And we can do it with a very high accuracy rate.”

Haick has a vision for the future of the Nanose. “Ultimately, we want our device to be easy to use,” he said. “In 20 years, we hope to have a device that is portable or can be integrated with a smartphone. And it should work. But the most critical part of this project is cost. So we are working hard to make the device inexpensive; we hope to bring it to the order of a few hundred dollars. Then it can be provided not only to hospitals but to family doctors and pharmacies, where the tests can be part of routine examinations.”

Haick said the project carries “a lot” of risks. “Inventive projects usually are risky,” he said. “But we are taking these risky steps without going against the stream — and we are able to show results. We are advancing good science, which can help society.”

LIN ARISON and DIANA C. STOLL are the creators of “The Desert and the Cities Sing: Discovering Today’s Israel,” a box set of books, photographs, video content and more that highlights Israel’s creative achievement and innovation.

‘Nightmare bacteria,’ shrugging off antibiotics, on rise in U.S.

“Nightmare bacteria” that have become increasingly resistant to even the strongest antibiotics infected patients in 4 percent of U.S. hospitals in the first half of 2012 and in 18 percent of specialty hospitals, public health officials said on Tuesday.

“Our strongest antibiotics don't work and patients are left with potentially untreatable infections,” Dr. Tom Frieden, director of the Centers for Disease Control and Prevention, said in a statement before an afternoon news conference. He said doctors, hospitals and public health officials must work together now to “stop these infections from spreading.”

Over the past decade more and more hospitalized patients have been incurably infected with the bug, Carbapenem-Resistant Enterobacteriaceae (CRE), which kills up to half of patients who get bloodstream infections from them, according to a new CDC report.

The bacteria belong to the Enterobacteriaceae family, which includes more than 70 species that normally live in the water, soil and human digestive system, such as the well-known E. coli. Over the years, some Enterobacteriaceae have become resistant to all or almost all antibiotics, including last-resort drugs known as carbapenems.

Over the past decade, the percentage of Enterobacteriaceae that are resistant to these last-ditch antibiotics rose by 400 percent. One type of CRE, a form of Klebsiella pneumoniae, has increased sevenfold in the last decade.

Almost all CRE infections occur in patients receiving medical care for serious conditions in hospitals, long-term acute-care facilities (such as those providing wound care or ventilation) or nursing homes.

These patients often have catheters or ventilators and are therefore receiving antibiotics to reduce the risk of infection or battle an existing infection. When the antibiotics wipe out susceptible bacteria, the coast is clear for CRE to proliferate.

Northeastern states report the most cases of CRE. In one of the worst outbreaks, 18 patients at the National Institutes of Health Clinical Center in Bethesda, Maryland, contracted a CRE strain of Klebsiella pneumoniae in 2011. Seven patients, including a 16-year-old boy, died.

Last month, CDC reported that unusual forms of CRE – with such exotic names as New Delhi Metallo--lactamase and Verona Integron-mediated Metallo--lactamase – are becoming more common in the United States. Of the 37 unusual forms ever identified, the last 15 have been reported since July.

The germs themselves spread from person to person, often on the hands of doctors, nurses and other health care professionals. They can easily pass their antibiotic resistance – contained in a speck of genetic material – to other kinds of germs, making additional kinds of bacteria potentially untreatable as well, CDC said.

That “can create additional life-threatening infections for patients in hospitals and potentially for otherwise healthy people,” the CDC said in a statement.

The CDC is trying to make health care facilities more aware of the resistant germs, since their spread can be controlled with proper precautions and better practices: Israel, for instance, cut CRE infection rates in all 27 of its hospitals by more than 70 percent in one year.

Such measures include such standard infection control precautions as washing hands, as well as grouping patients with CRE together and dedicating staff, rooms and equipment to the care of patients with CRE alone. When an acute-care hospital in Florida recently had a yearlong CRE outbreak, implementing such measures cut the percentage of patients who got CRE from 44 percent to zero.

Reporting by Sharon Begley; Editing by Doina Chiacu

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

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

When prostate cancer scare hits close to home

When Rabbi John Rosove of Temple Israel of Hollywood was diagnosed with prostate cancer in 2009, he was devastated. Given a dire prognosis by his first doctor (who later turned out to have exaggerated the circumstances), he felt the weight of his own mortality for the first time.

“I never really understood what it meant to be sick like that,” he said. “I felt as though I had been given a death sentence.”

Upon seeing a second physician, Rosove was given better news — his cancer was serious but treatable.

Rosove is now cancer-free, but in that split second he joined the estimated 240,890 men who are diagnosed with prostate cancer in the United States each year. Over the course of their lifetimes, approximately one in six men in the U.S. will be diagnosed with the disease.

More men are being diagnosed with the disease while it’s still in the early stages, said Dr. J. Kellogg Parsons, a urologic oncologist at UC San Diego Moores Cancer Center.

“More people are getting tested, and there is more awareness among the public,” he said. “Men with cancer have always been reluctant to talk about it, and I see a change in that over the last five to 10 years. That, in turn, often affects screening.”

That screening generally involves a blood test called a prostate-specific antigen (PSA) test. The test is performed by drawing blood, and if PSA levels are high, a doctor may recommend a biopsy to see if cancer is present.

While commonly administered, the PSA test has generated a great deal of controversy recently. Because prostate cancer can be so slow-growing that a man’s natural course of life may outpace it, some medical experts believe that the test — and the subsequent treatment — might do more harm than good. Others who are in favor of the test say that it prevents death in men who have a disease that will spread quickly. 

Even major health organizations are divided on the issue: In October of this year, the U.S. Preventive Services Task Force issued a draft recommendation that men who don’t show symptoms of prostate cancer not be given the PSA test. But the American Urological Association recommends that it be offered to men who are 40 and older and who have a life expectancy of at least 10 years. 

“It’s imperfect,” Parsons said of the PSA test, “but the fundamentally important thing is that it is the best test for detecting the more aggressive cancers while they can still be treated and cured.”

The course of treatment for prostate cancer depends greatly on the individual, said Dr. Timothy Wilson, the chief of the Division of Urology & Urologic Oncology at City of Hope. A unique aspect of prostate cancer treatment, though, is that because it can be so markedly slow to progress in some men, doctors generally begin by assessing whether the cancer requires immediate treatment or just needs to be monitored.

“What we are trying to predict is what the cancer will do over time,” he said, “and how it may impact that gentleman’s life in terms of local symptoms, and when we think it might spread.”

Not surprisingly, some patients take more keenly to the notion of monitoring than others. Certain men who are diagnosed with prostate cancer may be happy not to have to undergo treatment, but rather to get regular PSA tests every three to four months, and biopsies every year.

But for others, the notion of having cancer in their body is more than they care to contemplate every day.

“Just the concept bothers the hell out of them,” said Wilson, who also serves as the director of City of Hope’s Prostate Cancer Program. “They want to have treatment because they just want to be done with it.”

Treatment generally involves either surgery or radiation, and, Wilson notes, both can be equally effective.

A rapidly emerging trend is the use of robotic-assisted surgery, in which the surgeon employs remotely controlled mechanical arms that have a broad range of highly precise movement to operate on the patient’s cancer. Parsons estimates that 60 percent of prostate cancer patients who undergo surgery have robotic-assisted treatment.

Not all patients are candidates for robotic-assisted surgery, he said, but for those who are, the results can be excellent. “A person will generally spend less time in hospital, they have less pain after surgery, and they are back to their normal activities more quickly.”

Survival rates for prostate cancer have improved over the past 13 years. According to the Centers for Disease Control and Prevention, 29,093 men died from prostate cancer in 2007, which demonstrates a decrease of about 3.9 percent each year from 1998.

But, Rosove said, we still have a long way to go in accepting those in our community who are dealing with the disease, and helping them through their illness.

“For men, there is an embarrassment about prostate cancer because of where it’s located,” he said. And for those who work in the entertainment industry, the pressure to be brimming with youth and vigor can cause some with the disease to suffer in silence.

When he was sick, he said, a number of men working in Hollywood confided that they, too, had prostate cancer but were terrified their colleagues would find out.

“They were afraid that they would be seen as sick and damaged, and they would be rejected,” he said. “To have to go through this in secret is a tragedy.”

During his own illness, Rosove said, his faith was never shaken, but rather, made stronger by the ordeal.

“I don’t have this childlike view that if something bad happens to you, God did it, or, ‘Why didn’t God stop it?’ We are human beings, and we get sick,” he said. “Did you expect to live forever?”

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.”

Roots, reality and Israel’s 60th

It is a proud and glorious week as Israel, her 7.2 million citizens and millions of friends around the world celebrate the 60th anniversary of Israel’s birth as a modern, democratic nation.

This week, world leaders will join us in joyful ceremonies; flags will fly, anthems will play and the progress Israel has made toward the fulfillment of the ideals and aspirations of an ancient people in their modern state will be lauded.

The joy will be tempered by memories of loss and by the challenges and threats that continue as a daily part of Israeli life those same 60 years later. But in all, it will be a visible celebration of human achievement that can bolster hope in a difficult part of the world. It will be the stuff of ceremonies and tableaux, visible, stirring and meaningful.

As a proud Israeli, I will join that celebration here in Los Angeles, but not just the pomp and circumstance. That’s just the tip of the iceberg, if you will, or the part of the tree that lives above the ground. My celebration will seek that which is not so easily seen: the roots of a tree that give it life and stability; the underwater bulk of an iceberg that makes it massively powerful. You see, from my perspective, Angelenos and most of the people of the world see only the smaller, more visible part of the Israeli experience and reality.

What they don’t see are the roots that modern Israeli society has grown outward to connect with the rest of the world; what they don’t feel is the massive impact that Israeli companies have on the global economy; what they don’t know is how often in their everyday lives they are touched by modern Israel through the research, innovation and creativity that are the larger output of the total Israeli endeavor each day.

Most Angelenos “touch” Israel literally dozens of times each day; they just don’t know it. Be it the ingenuity of the Intel team in Israel that created the dual-core processor architecture now driving all of the PCs and Macs, the prominence of the Israeli software that safeguard our Internet connections, the major Israeli contributions to the very invention and continued development of cellphone technology or the ubiquity of Israeli software in the creation of voice mail boxes, instant messaging and customer service programs, there is “Israel Inside” almost everywhere; we just don’t know it, but it benefits us all every day.

There are hundreds of Americans alive today — and tens of thousands of others around the world — because of the ingenious “camera-in-a-pill” designed by Israel’s Given Imaging. This brilliant diagnostic imaging device is but one of many Israeli contributions helping better diagnose disease, just as Copaxone, a leading drug used to treat multiple sclerosis, is but one of many Israeli advances in treating disease. Ask any neurologist or endocrinologist about the level and quality of medical research being conducted in Israel today — in stem cells, diabetes or in neurodegenerative diseases — and they will tell you that Israelis are leaders in these fields and more, often in collaboration with Americans.

This is the work of Israelis; it should be the hallmark of our first 60 years and the legacy upon which our future is conceived and built. In a part of the world where many nations are blessed with enormous mineral wealth, our country has had but one natural resource: the curiosity, ingenuity and determination of our nation — immigrants from more than 180 countries — to create first a national homeland and then a society dedicated to making the world a better place. And, we do this despite our ongoing geopolitical and security challenges.

It’s time for the world to pay almost as much attention to Israeli organizations — like Save a Child’s Heart, which provides free treatment for Third World children with life-threatening heart ailments, or to the millions of lives saved by Israeli ingenuity with water conservation and irrigation — as it does to the violence in our region that we would hope to end forever.

As Israel turns 60, it is time for Americans to look below the surface and see the roots that now connect us — all of us, every day — by the way the diversity and creativity of the Israeli people and its extraordinary economy become integrated with Los Angeles and the world. Now is the time for Americans to see the larger part of Israel that is either submerged or obscured from view by the smoke of the conflict — the everyday reality of daily life in Israel that exists beyond the images of conflict.

Here, Angelenos and Americans will find an Israel where more people get up each day and go to work trying to make the world a better place, than get up each day and do anything related to the conflict with our neighbors. The number of people who are involved with basic and applied scientific research, biotech, biomed and health care research and product development is far greater than the number of people involved with security — the number of people working in Israel’s high-tech industry alone exceeds the number of people in the military.

These Israelis are adding value to the world every single day. These Israelis are what root us to the rest of the world; they are the bulk of that which we create; they are what we hope the world will come to see and appreciate about Israel, as we begin our seventh decade.

Jacob Dayan is consul general of Israel in Los Angeles.

Not your grandmother’s Alzheimer’s

Carol Kirsch relished her demanding position as a sales trainer for Kaiser Permanente in Oakland. But a couple of years ago, a good friend told Kirsch she just wasn’t performing up to par. She was missing deadlines. And she’d forget meetings, so co-workers would have to come fetch her.

When the colleague confronted her, Kirsch said, “I was devastated, but I knew it was true.”

After undergoing extensive testing at Stanford University Hospital, Kirsch was diagnosed with early stage Alzheimer’s disease. She was 57.

Kirsch is among the 5 percent to 10 percent of individuals with early onset Alzheimer’s, those who develop symptoms before the age of 65. And she is one of the growing number who are being diagnosed at an early stage of the disease.

“This is a sea change. More and more people are getting diagnosed early in the disease,” said Dr. Debra Cherry, executive vice president for the Alzheimer’s Association’s California Southland Chapter. “Our image of Alzheimer’s is of your grandmother, but this is not your grandmother’s Alzheimer’s. The association has a whole new population to embrace.”

A progressive disease that gradually impairs brain function, Alzheimer’s affects 4.5 million Americans and an estimated 450,000 Californians. One in 10 people older than 65 and half of those older than 85 have the disease. Last year, the Los Angeles County Department of Public Health reported that Alzheimer’s had, for the first time, emerged as one of the top 10 causes of death in the county.

According the National Institute on Aging, about 2.2 million people are in the early stages of the disease. This number is expected to grow as Americans live longer and diagnostic techniques continue to improve.

Last fall, the Southern California Alzheimer’s Association convened its first conference geared to those with early stage disease, in partnership with USC and the Alzheimer Disease Center at UCLA. Held at the Skirball Cultural Center, “Living Our Lives, Planning Our Futures” drew a sell-out capacity of nearly 350, and will serve as a springboard for future programming.

The event was organized by two Los Angeles-area residents, Richard Bozanich, 50, a former journalist, and Jay Smith, 69, a retired architect, who met at an early memory loss support group.

“The Alzheimer’s Association began as a grass-roots effort by caregivers, and most programs are geared toward caregivers or professionals,” Bozanich said. “We wanted to put on a conference by and for people with early memory loss. This was an opportunity for us to speak in our own voices, not to be spoken for.”

Smith added : “We wanted people to know: I’m not alone. There are others like me. There are places I can go and things I can do.”

Kirsch traveled with her husband from Oakland to attend the conference, and spoke on a panel about living and coping with memory loss. When she was initially diagnosed, she said, “For a long time, we cried. But my attitude now is to make the most of every day.”

She sings in a chorus, works with a writing coach and travels extensively.

“It’s good for others to see people like me who are still active and able to do the things I like to do,” Kirsch said. “When people who don’t have any contact with the disease hear ‘Alzheimer’s,’ I think they envision people who are drooling and who aren’t able to speak. One of the reasons I’m willing to put myself out there is to show that’s just not the case.”

Cherry, the Alzheimer’s Association’s vice president, said that progress of the disease varies for each person.

“We can’t say definitively what to expect,” she said. “A person with an Alzheimer’s diagnosis can live for two to 20 years, and can be in the early stages for a very varied length of time.”

Conference co-chair Bozanich said that medication has improved his life and enabled him to perform routine tasks without problems, although he uses a cane for balance. He and Smith both drive, attend meetings, and have traveled to Washington, D.C., to educate legislators about the disease. Both have been appointed to the national Alzheimer’s Association work group on early stage disease.

“Alzheimer’s used to be a silent epidemic,” said Peter Braun, Alzheimer’s Association Southland Chapter executive director. “Now the face of the disease is changing, and our services need to reflect a new paradigm. It’s going to require our national will to address this issue because Alzheimer’s is the epidemic of the 21st century.”

For the Alzheimer’s Association’s round-the-clock helpline, call (800) 272-3900.

Group hopes Gaucher becomes household name

When Michael Margolis was 4, his doctor took his parents aside and told them he had a rare disorder called Type I Gaucher Disease. The disease, which strikes Ashkenazi Jews seven times more often than the general population, is a genetic disorder that robs patients of an enzyme that prevents a buildup of fatty tissues in the body. Victims develop a swollen spleen and liver, anemia-related chronic fatigue and debilitating bone pain.

In severe cases, the patient’s spleen sometimes swells so much that patient looks pregnant. Because the condition was considered incurable and untreatable until the early 1990s, Margolis and his family were told that all they could do was ignore it and hope for the best.

Doing so became harder as time went on. In their early 20s, Type I Gaucher (pronounced “go-shay”) patients typically start to go through “bone crises,” in which a buildup of fatty tissues blocks blood flow to the bones. The bones then die over a period of weeks in a gangrene-like process, leaving the patient in debilitating pain. Left untreated for a long time, patients develop weak skeletons and often need both hips replaced. They may also need their spleens removed to stop the progressively larger swelling of the organ that characterizes the disease.

All of that was happening to Margolis, who is 58 now and a television producer living in Valley Village. By 1991, when the FDA approved an enzyme replacement therapy for Type I Gaucher Disease he was only in his 40s, but he was looking at a future that included hip replacements, spleen removal and a weakened skeleton.

“If I had gone on without treatment … I’d have been in pretty sad shape right now,” Margolis, said recently. “I hate to see other people go through the same process needlessly.”

Margolis is on a mission to make sure no one does. Inspired by the success of the early-1980s campaign to raise awareness of Tay-Sachs Disease, he formed the Jewish-Associated Disease Action Committee (JADAC) this spring. The organization’s mission: To raise awareness in the Jewish community of Gaucher and other Jewish-associated genetic diseases, and to make them household names.

The committee’s first strike came last spring, when Margolis, whose professional credits include the 1990s reality show, “Crusaders,” used his professional chops as a TV producer to make an informational DVD about Gaucher Disease called, “A Message to Elijah.” Narrated by Elliot Gould, the DVD introduces new Gaucher patients to three Los Angeles-area patients who are living active, full lives with the disease. It has already reached 7,000 people, Margolis said, and JADAC plans to produce such a DVD for every Jewish-associated genetic disease. They list 15 such diseases on their Web site (Two neighborhoods reveal Orthodox community’s fault lines

First Person – My Upfsherin

The upfsherin (hair cutting ceremony) took place on the last day of Shevat — an auspicious time for a healing ritual. The day before Rosh Chodesh (first day of the month) is observed, in the medieval mystical practice of Yom Kippur katan (little Yom Kippur) — a day for cleansing, purification, and preparation — just what shaving my head represented, as I began my fifth week of chemotherapy.

The upfsherin fell on the cusp of the months of Shevat and Adar — also propitious. The landscape of Shevat, in which we celebrate the rebirth of the trees, is a vegetative mirror of a bald head. Yet inside those leafless trees the sap is rising, life-giving elixirs watering it back to life. While we know that spring will come, the trees of Shevat often look like brittle sticks. Healing seems unlikely. This same feeling is hard to escape amidst chemotherapy’s limitations.

But Adar comes, with its joy and celebration. Lifting the weight of winter and of the fluids that run through the trees, swelling the buds and propelling green shoots in preparation for spring, Adar is the month of reversals. In Megillat Esther, stories of gloom and doom surprise us with happy endings. Destruction that seemed determined is overturned. The Jewish people survive and flourish. I embrace these metaphors for my healing journey, linking my bodily resurrection to that of the sycamore tree in my garden.

This is not the first time I have turned to that tree for guidance. In 1995, for the year after my father died, I retreated to the company of the tree. I sat for long periods, looking at the tree, thinking about my father. Looking through the skylight in my office, the seasons’ changes in color and texture against the California sky reflected my internal changes. The tree’s efforts to hold onto its leaves, as the autumn winds pulled, became my own resistance to letting go of my father and facing the starkness of winter without his protection. The hole in the trunk, where a branch had been cut away many years before, became my early wounds, reopened with this new loss. The burst of green, that appeared overnight to propel my tree into springtime, expressed my own rebirth of energy. By the summer, I was ready to leave my tree companion to teach and to study.

Once again my tree teaches me of the paradox of constancy and change that is the grace of the seasons. Embracing my tree as a companion weds me to life — and to the life-affirming progression of the seasons. It carries me forward, on the wings of time, beckoning me to use time as a healer.

For the upfsherin, I decorated a chair with ribbons in purple, green and gold — Mardi Gras colors — to mark the mutual healing for my beloved hometown and my own body as we confront the floods of toxic chemicals. I put a sheet on the floor to catch the falling hair. I explained the ritual’s intention and plan and introduced a prayer, affirming my vision for healing, encouraging others to join in:

Dear God:
Gimme a head with hair
Long beautiful hair
Shining, gleaming,
Streaming, flaxen, waxen
Give me down to there
Shoulder length or longer
Here baby, there mama
Everywhere daddy daddy
Hair, hair, hair,
Flow it, show it
Long as God can grow it
My hair

Then the cutting began. People held a lock, made a snip and gave a blessing. I received my blessing and asked each person to cut a length of ribbon for themselves, requesting that each sight of the ribbon move them to pray for my healing, the healing of New Orleans, the planet and all those who suffer.

The blessings ran from heart-rending pleas for my safety to humor. One friend told me, that he had just purchased a tree and was going to mulch it with my cut hair. My ex-husband reminded me of my mother’s dictum, “There’s nothing more temporary than a haircut.” Between blessings, my guests chanted the short healing prayer of Moses when his sister was stricken with disease: “El na rafana la (God please heal her).” I responded — to the blessings and to each crunch of the scissors — with tears and laughter. When the blessings were finished and my hair lay in piles on the floor, Peter, my hairdresser for 25 years, swooped down with electric clippers and completed the job.

Newly a woman with a buzz cut, I spoke about being a walking testimony for the disease of the planet. I prayed for the courage to not cover the truth in order to protect those uncomfortable with the anomaly of a bald woman and perhaps in denial about the state of the earth. I spoke of the link of my healing to the healing of my city of New Orleans and to all those who suffer.

Then we took the sheet out to the garden. And while we sang the “Misheberach,” we sprinkled the hair among the roots of my tree — to nourish it as it nourishes me. I hope a bird chooses some of my hair for a nest.

Anne Brener is an L.A.-based psychotherapist. She is the author of “Mourning & Mitzvah: Walking the Mourner’s Path” (Jewish Lights, 1993 and 2001), a fourth-year rabbinical student at Hebrew Union College-Jewish Institute of Religion and a faculty member of the Academy for Jewish Religion.

Many With Gaucher Unaware of Disease

When Jewish New Yorker Joan La Belle, now 70-something, was in her mid-20s, she began to experience scary symptoms, suggesting a serious health problem: “I felt exhausted, had rough menstrual periods with very heavy bleeding and terrible nose bleeds.”

She also suffered substantial hemorrhaging in childbirth, she said in a recent telephone interview from Minneapolis, where she has been a longtime resident.

Hemorrhaging and an enlarged spleen — another of her symptoms — are often misdiagnosed as leukemia, and bone pain is often mistaken for arthritis, so La Belle said that she really didn’t know the actual cause of her symptoms for years.

Finally, 15 or 20 years ago, a Jewish physician filling in for her regular internist correctly recognized her enlarged spleen as an indicator of Gaucher (pronounced go-SHAY) disease, to which Jews are especially susceptible.

Gaucher is sufficiently rare that many doctors weren’t and still aren’t aware of it. And when LaBelle was diagnosed, “they were just doing research, and there was not a glimmer of hope” for a treatment, she said

But then, medical researchers produced the enzyme regimen that LaBelle needed, and for the last 12 or 13 years, she has received regular infusions that have dramatically improved her life, she said. These enzyme treatments completely control her symptoms, LaBelle reported.

“Prior to the [enzyme therapy], I used to have hemorrhaging and my hemoglobin was very low,” she said. “But, now it’s normal.”

LaBelle receives intravenous infusions of the latest formulation of the enzyme, called Cerezyme, at a local Minneapolis hospital every other week. It takes 60 to 75 minutes, she said. The length of time per patient varies, depending on the number of units a patient needs.

LaBelle said “every couple of months” she has a “bone crisis,” which is an event of intense pain that occurs because of a sudden lack of oxygen in an area where Gaucher-affected cells have interfered with normal blood flow. The episode can last for hours or days. She said she treats the pain with medication.

Based on statistical probability, half of the Gaucher patients at the Lysosomal Diseases Treatment Center at Children’s Hospital of Wisconsin should be of Ashkenazi (Central and Eastern European) Jewish heritage.

In fact, however, only one of the eight Gaucher patients, though not Jewish, believes he has Ashkenazi ancestry. The reason could be the lack of knowledge about the disease, said genetic counselor Amy White, who works at the Lysosomal Diseases Treatment Center.

This means that many people who are at risk or suffering have not been diagnosed or treated. The disease is not thought to be life threatening, but it’s chronic and painful and doctors frequently mistake the symptoms for something else. However, even when it’s recognized, treatment remains extremely expensive.

The undiagnosed cases are probably due to “a lack of awareness among both medical and lay communities,” according to the National Gaucher Foundation (NGF).

So this year for the first time, the NGF designated a “National Gaucher Disease Awareness Month” in the hope of educating health-care providers and the public about the importance of recognizing the signs and symptoms of the disease. The results of this effort, which took place in September, are not conclusive, but researchers and advocates especially wanted to reach the Jewish community, where this often painful and debilitating — but highly treatable — disease is most prevalent.

According to the National Gaucher Foundation, Gaucher disease occurs when a person inherits a mutated gene from both parents, but if the person inherits a mutated gene from one parent and a normal gene from the other parent, he or she will not have the disease but may be a carrier. A carrier may pass the gene on to the next generation, depending on the genetic makeup of the person he or she marries.

White said that the Lysosomal Treatment Center has a lot to offer Gaucher patients, in addition to the life-changing Cerezyme infusions. Despite being located in Children’s Hospital, the genetics center, headed by Dr. William J. Rhead, chief of the generics department, does not limit its services to children.

“We see any individual or family who has a genetic condition,” White said. “We provide an initial evaluation and make recommendations as to specialists in Gaucher disease.”

The center also provides semiannual or annual evaluations of the course of a patient’s disease, as well as its treatment. It takes X-rays, does bone MRIs and CTs of the liver and spleen and conducts specialized blood tests for Gaucher Disease markers. These tell a patient how the disease is progressing and whether the Cerezyme dosage is adequate.

In addition, the center provides genetic counseling to couples contemplating pregnancy, as well as to expectant parents. It also counsels patients and their families on the psychosocial aspects of the disease.

The genetics center can assist Gaucher patients with medical insurance issues, an important service because of the cost of Cerezyme.

A version of this article was first published in the Wisconsin Jewish Chronicle.



” class=”boldbluelinklmenu”>Lack of One Enzyme Triggers Illness

Lack of One Enzyme Triggers Illness

Gaucher Disease is a rare, inherited disease caused by a hereditary deficiency of a single essential enzyme, glucocerebrosidase, according to the National Gaucher Foundation (NGF).

Because this enzyme is necessary for breaking down aging blood cells, its lack causes some cells to become engorged. This condition eventually crowds the liver, spleen, bone marrow and lung cells and causes those organs to swell, disrupting production of blood cells in bone marrow and causing destruction of bones.

Genetic counselor Amy White of the Lysosomal Diseases Treatment Center in the Genetic Center at Children’s Hospital of Wisconsin put it this way: “Lysosomes are like the garbage disposals of our cells. Their job is to collect and get rid of the waste products.”

Symptoms of Gaucher Disease can occur in childhood or adolescence, but the disease is most often diagnosed in adults, according to the Center for Jewish Genetic Diseases Web site.

An enlarged spleen and liver are often the first noticeable symptoms in children, said White, a member of the National Society of Genetic Counselors.

“And these are pretty noticeable,” she added. “You see a skinny kid with a big belly.”

The most common symptoms in adults are bone breaks, bone infection, unusual bleeding and tiredness, White said. An “easy and accurate blood test” can diagnose Gaucher Disease and identify carriers.

The effects of the symptoms vary, depending on the severity of the disease, but they can be managed with biweekly infusions of Cerezyme, an enzyme manufactured from Chinese hamster ovaries, which are referred to as “cho.”

“It uses recombinant [artificially created] DNA technology that is five to seven years old. It is the oldest enzyme therapy around, so we know the most about it,” White said.

Gaucher Disease is one of three lysosomal diseases treated at the center, and is the only one that primarily affects Jews. The other two, Fabry Disease and MPS 1, also called Hurler’s Disease, strike across ethnic lines.

The prevalence of Gaucher Disease in Ashkenazi Jews occurs because of something geneticists call the “founder effect.” This refers to a genetic trait or disease that has a high frequency in a contemporary population, because the gene was introduced by a founder into a small, often geographically or socially isolated group of people whose numbers then rapidly expand, according to a medical paper distributed by the NGF.

Ashkenazi Jews became susceptible to a variety of hereditary diseases because of their long history of “sudden periods of population contraction — the Crusades, pogroms, the Holocaust — followed by concentration in restricted areas — ghettos, the Pale of Settlement — and then temporary multiplication to large numbers.”

Though Tay-Sachs Disease, which affects one in about 2,500 Ashkenazi Jews, is the most well known of about 10 genetic diseases afflicting that population, Gaucher Disease is much more widespread. One in an estimated 450 Ashkenazi Jews suffers from the disease, and one in 14 is a carrier, according to the NGF.



” class=”boldbluelinklmenu”>Artist Depicts Pain of Genetic Ailment

A Father’s Drive to Save His Daughter

George Smith hates to lose. A Harvard Business School graduate, Smith founded one of Southern California’s largest, most prominent real estate investment banking firms and will receive an honorary doctorate from Tel Aviv University next week. Still, he smarts a little from a grievance endured at Hamilton High more than 50 years ago.

“I graduated second in my class to a home economics major,” said the 70-year-old real estate guru and father of four. “She had one B in three years and I had two. My physics teacher graded me at a different level than anyone else because she knew I was going on to Cal Tech.”

He holds no grudge. And this small injustice would help to fuel rather than blunt his drive to succeed, which has served Smith well in building a firm that exceeded $2 billion in commercial financing last year. He never imagined that he’d also apply this indomitable will another way: in a fight to save his daughter’s life.

Becca Smith was 5 years old in 1983 when she was diagnosed with Ataxia Telangiectasia (A-T), a rare, progressively degenerative neurological disease for which there is no cure. Children with A-T have difficulty walking and with balance, and are more susceptible to infection and certain cancers. Smith and his wife, Pam, were told that Becca was unlikely to reach her 20th birthday.

Although devastated, Smith reacted in typical fashion: “I felt that if I could raise money and pick the right researchers, I would be able to make a difference — maybe prolong Becca’s life and perhaps find a cure for the disorder.”

In this pre-Internet era, the Smiths spent a year seeking scientists involved in A-T research, only to be told that A-T was “an orphan disease” that had no funding.

Then, in their own backyard, they discovered Dr. Richard Gatti, who was studying A-T in a makeshift lab at UCLA. Smith provided Gatti with an annual stipend. Several months later, Smith made a similar arrangement with Dr. Yossi Shiloh, a young Israeli researcher at Tel Aviv University.

In 1988, Gatti’s UCLA lab narrowed the location of the gene responsible for A-T to a specific region of one chromosome. Seven years later, Shiloh’s Tel Aviv lab identified the exact gene.

To help with the financial burden of their pledges, the Smiths established the Ataxia Telangiectasia Medical Research Foundation (A-TMRF). Pam initiated an annual fundraising luncheon attended by friends from the Project Council at the Museum of Contemporary Art. George started a real estate luncheon that now attracts more than 1,500 annually.

On Sept. 21, Smith will hold the 11th annual George Smith Partners Real Estate Luncheon at the Westin Century Plaza Hotel, where Itamar Rabinovich, former Israeli ambassador to the United States and president of Tel Aviv University, will present Smith with an honorary doctorate.

Smith estimates that the nonprofit he started has supported more than $10 million in research worldwide. In October of last year, the Smiths endowed the Rebecca Smith Chair in A-T Research at the David Geffen School of Medicine at UCLA.

“My lab’s first grant support was from the A-TMRF,” said Shiloh, who has earned worldwide recognition for his A-T research. “It has been the major and most stable source of support of our work.”

Shiloh now refers to the A-T gene as “a sentry at the gate of genome stability,” because the protein it produces essentially sounds the alarm to report damage to cellular DNA, particularly broken DNA.

A-T patients produce little or none of this protein, which explains why their symptoms affect so many systems in the body.

Ironically, this “orphan disease” is now proving to have impact well beyond children affected by A-T. Research may provide insights into other neuro-degenerative (brain and nerve function) diseases, deficiencies of the immune system, cancer and aging. One in 100 people carry a defective copy of the A-T gene, which may also be associated with higher risk of breast cancer.

At UCLA, Gatti’s work currently focuses on potential treatments.

“The Rebecca Smith Chair for A-T has come at a time when we can — for the first time — envision a therapeutic approach that is achievable,” Gatti said. “I project that in three to five years, we will have clinical trials.”

Becca, now 27, is completing her associate of arts degree at Moorpark College. Although she has difficulty walking and has slurred speech, she has not been plagued with the infections typical of so many A-T patients.

Smith’s own health has sorely tested his resilience over the last five years. He has endured kidney disease, the implantation of four stents in his heart and treatment for bone-marrow cancer. He now undergoes dialysis three times weekly.

“I’m feeling really good now,” he said. “My life is back to normal. I just have an inconvenience,” he said, referring to the 12 hours a week of dialysis, during which he returns calls and e-mails.

Smith said his daughter’s illness changed the priorities in his life: “I tell people, ‘Be involved in something. The more you give, the more you get from it.'”

For information about the Sept. 21 George Smith Partners’ Real Estate Luncheon, call (310) 557-8336 or visit


Taking Women’s Health to Heart


Nancy Kearson knew she had high blood pressure, but she wasn’t aware of any other health problems until a friend urged her to see a physician four years ago. That exam may have saved her life.

Kearson, who at the time was 53 years old and working for a demanding CPA firm, discovered she was at high risk for a heart attack. Her doctor prescribed cholesterol-lowering medication and baby aspirin daily, and suggested changes to Kearson’s diet.

“I was surprised that the risks were as great as they were,” she said. “I thought I had good health and would always have it.”

Heart disease, often perceived as a men’s health issue, affects more than 6 million women in the United States. According to the American Heart Association, heart disease claims more lives among women than cancer, killing one woman every minute. Yet only 13 percent of women consider heart disease their greatest health risk. In an effort to encourage women and men to learn more about heart disease prevention, February was designated as American Heart Month under President Bill Clinton, who himself recently underwent a bypass operation.

“Heart disease is the leading killer of women. [Yet] it is predictable and preventable,” said Dr. C. Noel Bairey Merz, medical director of the Women’s Health Program at Cedars-Sinai Medical Center. In the case of breast cancer, she said, “We empowered women to pay attention — to go in and get screening and to demand that they be treated and taken seriously. Now we hope to do the same with heart disease.”

Becoming familiar with risk factors and controlling lifestyle choices are the first steps in combating heart disease. Risk factors include cigarette smoking, high blood cholesterol or blood pressure, diabetes, physical inactivity and a family history of heart disease. Research suggests that women can lower their heart disease risk by as much as 82 percent through lifestyle changes (see sidebar).

Screening is equally important.

“Just as they do for a mammogram, women should make an appointment to have a heart-risk assessment each year,” Bairey Merz said.

The assessment looks at weight, blood pressure, overall cholesterol level, the level of HDL (good) cholesterol and other factors to determine risk levels. After receiving results, women need to follow with action, Bairey Merz said.

Kearson now sees her cardiologist, Bairey Merz, regularly to have blood work and prevention consultations. She also changed her diet, left her high-stress job to open her own practice and takes morning walks every day.

“I realized my [previous] lifestyle came with a price,” she said.

Earlier this month, the American Heart Association announced new guidelines for preventing heart disease and strokes in women, which highlights the need to adopt healthy lifestyle habits throughout life, rather than waiting for a problem to occur.

“The concept of cardiovascular disease as a ‘have or have not’ condition has been replaced with the idea that [it] develops over time and every woman is somewhere on the continuum,” said Lori Mosca, director of preventive cardiology at New York-Presbyterian Hospital/Columbia University Medical Center and chair of the group that developed the guidelines.

The guidelines also address treatment, recommending that its aggressiveness be linked to whether a woman has low, intermediate or high risk of having a heart attack in the next 10 years. For high-risk women, aspirin and drug therapy are recommended. Quitting smoking, getting 30 minutes of daily vigorous exercise, eating a heart-healthy diet and maintaining a healthy weight are lifestyle changes recommend for all women.

Bairey Merz said that women must be assertive to get proper care. Women suffering from heart disease are twice as likely to die from it as men, but are less likely to be evaluated for cardiac symptoms — such as heart palpitations, chest pains and shortness of breath — and may receive less aggressive treatment once diagnosed.

There are now several national efforts designed to increase attention to women’s heart health. They include the American Heart Association’s Go Red for Women campaign; the National Heart, Lung, and Blood Institute’s The Heart Truth program; and Sister to Sister: Everyone Has a Heart Foundation’s National Women’s Heart Day.

Bairey Merz hopes that these efforts will result in increased vigilance — and decreased deaths.

“Society in general has not valued women’s health as much as men’s health,” she said. “We need to be our own advocates.”


Total Recall

Twice in the past couple of days, I’ve been in conversation and found myself grasping for a word. On both occasions, my 4-year-old supplied the word before I could come up with it. And, of course, there are the times that I walk into a room only to realize that I have no idea what I wanted to do once I got there. Are these natural lapses or early signs of something more sinister?

"We are all one day closer to Alzheimer’s disease," Dr. Gary Small says forebodingly in his book "The Memory Bible: An Innovative Strategy for Keeping Your Brain Young" (Hyperion, 2003). "Alzheimer’s and dementia begin forming in our brains much earlier than anyone previously imagined, even in our 20s."

Fortunately, we can thwart — or at least postpone — this progression.

"It is never too late or too early to protect our brain cells and delay memory decline," writes Small, who is the director of the UCLA Center on Aging. "By using games, puzzles and some new approaches to daily activities, we can improve our short- and long-term memory abilities and possibly prevent future memory loss and Alzheimer’s disease."

The good news about Small’s "anti-brain aging" program is that all of the recommendations are pretty basic. They do not require exotic terminology or elaborate equipment. The bad news is that change isn’t instantaneous. Beyond the memory tricks and techniques, the plan calls for making fundamental changes to diet, amount of physical activity and stress levels — easier said than done.

Launching into the book, I started with the memory self-assessment, which identified my degree of "memory challenge" as "moderate." (It took me four tries to correctly tally my score, so I guess my mathematical abilities would rate as "pathetic.") In another test, I was able to recall six out of 10 unrelated words 20 minutes after reviewing the list.

Small’s principal memory technique is called Look-Snap-Connect. "Look" means to truly pay attention. For example, most of us are so busy thinking of other things when we’re introduced to a new person, that we understandably can’t recall their name just minutes later. This step involves actively focusing on what you want to remember, taking time to absorb details and meaning. "Snap" refers to creating a mental picture of the information, such as visualizing a frankfurter to remember the name Frank. "Connect" involves combining mental pictures in a meaningful way, creating a story of sorts that will help you retain and access what you want to remember.

Another strategy is called chunking — dividing a large group of items into smaller groups or groupings with common characteristics. The "Roman Room" technique involves visualizing a familiar room and mentally placing items to be remembered — for example items on a grocery list or the topics of a lecture — in specific locations within the room. Small also presents the Peg Method as a way of "forever removing uncertainty about remembering numbers." I thought I’d try it to learn my husband’s Social Security number, but the method requires creating and memorizing visual images for each of the 10 digits, then linking the images in a story. That seemed like much more effort than simply memorizing the number the old-fashioned way.

When it comes to brain power, Small believes in the "use it or lose it" philosophy. He recommends "a daily regimen of mental aerobics," which can involve such activities as crossword puzzles, brain teasers and other endeavors that keep us mentally stimulated. He cites research that found that the risk of developing Alzheimer’s disease was three times lower in people who had been intellectually active during their 40s and 50s compared to those who hadn’t.

Beyond the techniques and the brain teasers, Small’s recommendations are the same ones we’ve all heard repeatedly for maintaining wellness and staving off disease: following a low-fat diet, reducing stress, staying physically active, getting sufficient sleep, balancing work and leisure, avoiding tobacco and other drugs, and engaging in meaningful activities and relationships. He does offer some specific dietary recommendations, including taking 400-800 units of vitamin E and 500-1,000 milligrams of vitamin C daily, as well as eating foods — such as avocado, salmon and walnuts — that are rich in omega-3 essential fatty acids.

Will it make a difference? I tried to memorize another list of 10 words — and, this time, I could remember nine of them. But having just finished the book, it’s too early for me to tell how much of a change it will make in the long run. And much of that depends on how thoroughly I follow through on the book’s recommendations. So I made a list of the steps I plan to take as part of my new memory regimen. But just in case the list gets lost, I’m also telling my 4-year-old.

The UCLA Center on Aging holds classes in improving memory. For more information, call 310 794-0676.

Muscular Disorder Won’t Stop Siblings

As young adults, brothers Babak and Daniel Darvish, born less than two years apart, were avid athletes, music lovers and medical students who planned to become surgeons. But about five years ago, they discovered that they shared something besides their hobbies and professional aspirations. Both were diagnosed with hereditary inclusion body myopathy (HIBM), a rare muscular disorder experienced by only about 500 individuals worldwide.

Babak first detected something amiss as a third-year medical student. "I was an avid guitar player … and realized I was having progressively more difficulty [playing]." Around the same time, Daniel, by then doing his medical residency, noticed he wasn’t running and bounding up the hospital steps as quickly as usual.

Putting their knowledge to work, the brothers searched the medical literature and finally discovered a few research papers that seemed to describe their condition. HIBM, they learned, typically strikes in the 20s or 30s, gradually weakens the muscles of the limbs and eventually leads to total disability. The disease predominantly affects Iranian Jews, who have a 5 percent to 10 percent chance of carrying the gene mutation responsible for HIBM. Still, even if both parents carry the gene, their children have a 75 percent chance of eluding the disease.

Once they realized what they were facing, the brothers traveled to Israel with blood samples in hand to meet with professor Zohar Argov and Dr. Stella Mitrani-Rosenbaum. The Israeli researchers were among the few scientists investigating this condition. (They subsequently identified the gene that causes HIBM last year.)

Babak and Daniel returned home determined to generate support for research on HIBM. The two spoke extensively at Hadassah events and other venues to raise funds and awareness within the Iranian community. They were among the few willing to put a face to a disease that many preferred to keep under wraps. At the same time, they began to contact and catalogue those who had HIBM, or seemed to exhibit symptoms. Their efforts generated visibility and financial support, but a research breakthrough remained elusive.

"The daunting limitations that threatened scientific progress became apparent," Babak noted. "There were not enough patients known to provide blood samples for research. There was inadequate awareness of the disease, and due to its small target population, little to no interest in the wider general and medical communities…. This was an orphan disease, in an orphan community."

Frustrated with the lack of progress toward a cure, the Darvish brothers decided to step up their own activities. In 1997, they joined with the Iranian Jewish Federation (IJF) to found Advancement of Research for Myopathies (ARM.), a nonprofit entity dedicated to raising funds and providing grants to promising research around the globe. ARM subsequently broke off from IJF. Photographer Mansour Pouretehad currently serves as ARM’s president and is also a major benefactor. In addition, last year the Darvishes created the HIBM Laboratory. Located in an Encino medical building, the lab collects and analyzes blood samples and acts as a clearinghouse for HIBM research. As Daniel explains, "Our goal is to get to clinical trials — and ultimately, treatment — as soon as possible."

Although Daniel said the laboratory performs "ancillary research," he and his colleagues have discovered four previously unknown genetic mutations that cause HIBM. Their findings were published in this month’s issue of the scientific publication Molecular Genetics and Metabolism.

Meanwhile, ARM, has awarded more than $270,000 in grants so far this year to researchers at UC San Diego, USC and Hadassah Hospital in Israel.

Living with HIBM derailed the Darvish brothers’ plans to become surgeons, but set them in new career directions. Babak, who is now married, works in physical medicine and rehabilitation at the West Los Angeles VA Medical Center. Daniel changed his specialty to internal medicine, and now devotes all his time to running the HIBM lab.

"We don’t know who is next," Babak said. "There are people in their teenage years that have no clue what’s in store for them…. People need to have a sense of urgency and feel that this [cause] belongs to our community and really work as a team toward finding a cure."

A Forkful of Trouble

Turkey, potatoes and gravy, candied yams — all the foods you love to pile on your plate come Thanksgiving. But you might want to check your blood sugar before you take another helping of mashed potatoes, because if you are one of the many American Jews at risk for diabetes, that extra forkful could spell a whole lot of trouble.

"I’m an Ashkenazi Jew, a meat-and-potatoes guy," said Los Angeles County Supervisor Zev Yaroslavsky, who was diagnosed with Type II diabetes in January 2001. "All of these things are off my diet now. No potatoes, not even a french fry."

It is no small irony that November is home to both Thanksgiving, our nationally recognized day of gluttony and sloth, and National Diabetes Month. Diabetes, which affects 17 million Americans, is on the rise in the United States. According to Health and Human Services Secretary Tommy Thompson, the number of people with diabetes in the United States has risen by nearly 50 percent during the past decade.

The impact of diabetes in the Jewish community is significant. "The prevalence in the Jewish community is greater than in other Caucasian populations," said Dr. Riccardo Perfetti of Cedars-Sinai Medical Center.

Dr. Francine Kaufman, head of endocrinology at Childrens Hospital in Los Angeles and president of the American Diabetes Association, said that lack of exercise at Jewish day schools is compounding the problem.

Diabetes results when the pancreas cannot create enough insulin, which helps the body convert glucose (a sugar) into fuel. Any additional sugar in the bloodstream, from either sweets or complex carbohydrates (like potatoes or white rice) aggravates the condition and increases the risk of fainting or stroke.

Type I diabetes, once known as juvenile diabetes, is rare and tends to be diagnosed at birth or in childhood. The more common Type II diabetes comprises 90 percent to 95 percent of all cases, and can go undiagnosed in many cases.

Although Yaroslavsky’s mother and "everyone on that side of the family" had had diabetes, he didn’t think it could happen to him. He dismissed the symptoms — extreme thirst, fatigue, frequent trips to the bathroom — as the combined result of stress from his busy schedule and age. Yaroslavksy might never have realized he had the disease if not for a bad cold, which led to a routine blood test.

The doctor told him that with diet and exercise he could manage the diabetes and live a normal life, but "if I didn’t, I could have any one of the following: amputation, kidney failure, heart failure, stroke or blindness," Yaroslavsky said.

So he changed his dietary and exercise habits, increasing his jogging routine, and is following a diet of whole-grain bread, chicken, fish, salads and some vegetables and fruits.

Yaroslavsky has no self-pity for the loss of his favorite foods. He calls it "a win-win situation."

"The diagnosis of diabetes will probably add 10 to 15 years to my life, because without it, I would have been eating the junk I ate before and not thinking about the consequences," he said.

Kaufman and Perfetti attribute the large increase in diabetes cases to a lack of physical activity — "God forbid we take the stairs," Kaufman said. She added that when it comes to exercise, schools are the worst culprits, including Jewish ones.

"In schools across the country, there are not enough physical activities to meet the needs of the students," Kaufman said. "Jewish day schools are the same or even worse, because they demand such a high level of academics. I would think that with the root of our religion being the reverence of life, we would stress taking care of our body as being just as important as academics."

Exercise can make a difference in the treatment of diabetes, Kaufman said, noting that one of her patients, Steve Eidelman, a Beverly Hills High School senior diagnosed with Type I diabetes, plays varsity tennis and even ran a marathon in Rome last summer.

In his spare time, Eidelman helps promote responsibility and activity among newly diagnosed youth. "If you are responsible," he said, "there is no reason you cannot control your diabetes.

A number of promising studies are underway to find a cure for both types of diabetes. Perfetti is working on one involving engineering a man-made gene to promote insulin production. He hopes to begin testing on human subjects some time in the next year.

Kaufman is chairing two multicenter clinical trials for the National Institutes of Health: one aimed at diabetes prevention, the other to determine the best treatment for the growing number of children with Type II diabetes.

Both physicians agree that the increase in the disease is a battle that can be won, if more people pay attention to their eating habits, and if they move away from their sedentary ways.

New Hope for HIBM Cure

Soroya Nazarian learned about hereditary inclusion body myopathy (HIBM), an uncommon muscular disorder that affects the Persian Jewish community, while in Israel on a Hadassah mission about five years ago. There, she met professor Zohar Argov, from the department of neurology at the Hebrew University-Hadassah Medical School in Jerusalem, the researcher who first discovered the rare disease in 1984. Although Nazarian did not know anyone personally affected with HIBM, the self-described “professional volunteer” knew her involvement with Hadassah Southern California put her in a unique position to increase awareness and raise funds for the condition that seemed to unfairly target her community.

Michael Banyan had a more personal reason for adopting HIBM as his cause. About a decade ago, the CEO and founder of an industrial alloy manufacturing company learned that he had the disease.

HIBM, typically strikes in early adulthood, slowly weakening the muscles of the limbs and eventually leading to total disability within one to two decades. Persian Jews are disproportionately stricken by the disease. They have a 5 to 10 percent chance of carrying the gene mutation responsible for HIBM. If both parents are carriers, their children have a 25 percent chance of being affected.

Nazarian and Banyan have become a dynamic duo of the HIBM cause, working jointly and independently to raise funds for research on the disease. The two helped mobilize Hadassah’s six Persian groups to collectively raise close to $350,000 for Hadassah Hospital research on HIBM.

As chair of Hadassah Southern California from 1997 to 1999, Nazarian was also instrumental in bringing the issue to the attention of the national organization. Banyan helped form a chapter of the Iranian American Jewish Federation dedicated to raising funds for HIBM research with the support of Solomon Rastegar, the organization’s president at that time.

These efforts are beginning to pay off. In September, researchers in Israel announced that they had identified the gene that causes HIBM. Dr. Stella Mitrani-Rosenbaum, a scientist at Hadassah-University Hospital on Mt. Scopus and a colleague of Argov’s, was one of the principal researchers to make the discovery. Mitrani-Rosenbaum says the findings give hope for the development of a therapy for the disease.

In the meantime, her laboratory has developed a genetic test to identify those who carry or are affected by the gene, and is working on a test to screen for it during pregnancy. (Those wishing to be tested must do so through a physician or genetic counselor.)

“Without the moral support and the most generous financial help of the Persian community … through Hadassah, it would have taken us significantly more time to achieve our aim,” says Mitrani-Rosenbaum.

HIBM does not solely affect the Persian community. Cases have been detected in Jews from Egypt, Afghanistan and Iraq. Nevertheless, its toll on Persian Jews initially caused Nazarian and others to fear that young Persians might marry outside the community out of fear of passing on the disease. She says this concern has declined now that people understand that the disease is not fatal, and that both parents need to be carriers in order to pass the condition along.

Nazarian commends those who have been willing to make their condition public. Like Banyan, Drs. Daniel and Boback Darvish, brothers who both have HIBM, have also spoken at Hadassah events and were part of the Iranian American Jewish Federation chapter dedicated to HIBM. “They’ve dedicated their lives to educating the community about this disease,” she says.

Banyan, meanwhile, maintains a hectic pace not slowed by HIBM. He commutes from Beverly Hills to his office in Anaheim. Only a slight limp gives any hint of his disease. Although no treatment or cure currently exists, he remains optimistic.

“When we started raising funds for HIBM, research [on the disease] was minimal and genetic research was not nearly as advanced,” he says. “With the speed of technology nowadays, and new discoveries being made every day, development of a therapy for HIBM is not very far off.”

I’m a Survivor!

Fran Drescher has a very sexy voice.

No, really! As she tools around Los Angeles, the Queens-raised actress — who resonated with TV audiences for six seasons as Fran Fine on "The Nanny" — evinces only traces of her character’s trademark nasal New Yawk bray.

On this April day, Drescher converses in a lackadaisical, morning-after drone that is, quite frankly, downright seductive.

Yet the topic of conversation — uterine cancer — is not sexy. Drescher feels that it is imperative to talk about the deadly disease and why women need to be proactive in discerning it. Her new memoir, "Cancer Schmancer" (Warner Books, $24.95), in stores May 1, chronicles her own experience detecting and surviving uterine cancer. "Cancer Schmancer" also documents a new chapter in her life. When her best-selling autobiography "Enter Whining" was released in late 1995, Drescher was the envy of Hollywood both for her storybook romance to high school sweetheart Peter Marc Jacobson and her serendipitous rise to fame in the 1990s. On a plane ride, the then-unknown actress sold her idea for "The Nanny" after pitching the concept to a CBS executive that happened to be seated next to her.

Now that’s all gone. As the 44-year-old actress writes in her new book, her 21-year marriage to Jacobson is over. The couple’s only love child, "The Nanny," (which they co-produced) was canceled in 1999. That same year, Drescher found herself at a crossroads. She was forced to rebuild her career and, for the first time, live on her own as a single woman. Then came the cancer.

Drescher got through this dark transition with the help of love.

"I had to call my parents. I always thought my mom would go through hysterics, and she was very strong," Drescher told The Journal.

Drescher also gained the support of her new boyfriend — an ex-"Nanny" staff member 16 years her junior — with whom she fell in love shortly before she was diagnosed. With great detail and exasperation, Drescher articulates in her book the tortured journey that finally led her to a proper diagnosis of her mysterious condition. She juxtaposes her youthful mindset, her young lover and their 20-something social circles with the menopausal symptoms — bruising, mood swings and postcoital cramping — which made her feel conscious of her age. Several years and eight doctors later, Drescher learned that she was in the early stages of uterine cancer, but that came only after a lot of research, self-exploration and determination to seek the truth.

Drescher sprinkles her East Coast wit into her writing, which includes some "Sex & The City"-style dish on her adventures in dating. She also speaks openly about how she felt after the passing of her beloved lapdog, Chester, her identification with Cher, and the disclosure that she’s a huge fan of the granola rock band Phish. Perhaps her most fascinating insights, however, relate to her candid take on her fabled marriage: how the codependence she shared with her husband was exacerbated in the aftermath of a traumatic brush with violence; how Drescher’s lifelong feelings of pleasing others sublimated her own fulfillment.

"After my separation, I went to a really quality therapy," Drescher said. "I realized that I had gone through difficult periods in my life and did not allow myself to feel the pain. I thought I always had to be the strong one. When I got the cancer, I decided this time, ‘I’m in pain, I’m in trouble, I need support.’"

Working on "The Nanny," it turns out, evolved into the perfect vehicle for the perfect husband-and-wife unit to invest their energies in public while actively avoiding intimacy in private.

Community reaction to "The Nanny’s" eponymous character has always been mixed. Some viewed Drescher as bold for portraying a Jewish woman as strong, smart and sexy. Others saw her as the ultimate negative stereotype. Drescher is unapologetic about her portrayal.

"That character was based off of real women that I grew up around," Drescher said, observing that, before her, there had never been a Jewish woman on network television "speaking Yiddish, going to temple, facing the prejudices of this world and rising to the occasion."

Besides, added Drescher, who is no fan of political correctness, anything goes in comedy.

Not so funny were some behind-the-scenes struggles. Even in a Jewish-heavy business such as entertainment, Drescher experienced pressure to alter her character’s ethnicity.

"I said, there’s no way this character is going to be Italian," she recalled. "It’s not that, as an actress, I can’t play Italian. But on TV, you have to work fast, and the most real, the most rooted in reality to me is Jewish. I wanted to do it closest to what I knew. I didn’t want to compromise or apologize for it because corporate or middle America or the Sun Belt wouldn’t embrace a Jewish character. And, in fact, they did first. Before New York and Los Angeles. They embraced her immediately."

Drescher, who will be honored as City of Hope’s Woman of the Year at the Sportsmen’s Club/Diamond Circle Chapter’s 54th Annual Spring Luncheon and Fashion Show on April 27, has no regrets about "The Nanny" — not even the price she paid for the show in her private life.

"I chose to have a career instead of a baby," Drescher said matter-of-factly, with only a hint of disappointment. "Only now am I psychologically ready." (Her ovaries have been frozen, and she hopes to conceive one day.)

Currently, Drescher is mulling over other decisions, such as whether to follow up this summer’s book tour with a one-woman show based on "Cancer Schmancer," or to host a daytime talk show. She is also writing screenplays and developing projects for MTV. The actress, whose first role was on the dance floor opposite John Travolta in "Saturday Night Fever," has come a long way from catering to other people’s feelings at the expense of her own.

"I have a lot of choices," Drescher said. "It’s a matter of what I feel up to doing. I don’t want to have to work as hard as I did on ‘The Nanny.’"

More than ever, she said she is comfortable with who she is.

"I’m very proud of my heritage and my people," she said. "I don’t consider myself religious, but I have a great respect and affinity for our people’s struggles and what we’ve achieved, despite the obstacles. And that’s something other ethnicities could look to."

For information on attending City of Hope’s April 27 benefit at 9:30 a.m. at the Beverly Hilton, call Jason Gudzunas at (213) 202-5735, ext. 26206.

Kosher Meat Less Prone to Foot-and-Mouth Disease

As far as foot-and-mouth disease is concerned, it’s good to be Jewish.

Since the outbreak of the disease last month, Jews who keep kosher have faced fewer serious meat shortages than the rest of the British community.

The economics of kosher slaughter have worked in Jews’ favor.

Most kosher slaughterhouses are small, so it makes financial sense for them to keep running even when only small numbers of animals are available for slaughter, said Michael Kester, the executive director of the London Board of Shechita.

And because most kosher slaughterhouses are family-run operations located near the farms that supply them, they were less affected by restrictions on the movement of animals.

"For a change, we’re ahead of the game," Kester said.

Foot-and-mouth is essentially harmless to humans, but it can be fatal to cloven-hoofed animals such as cattle, sheep, pigs and goats.

Farming experts say the fact that animals travel long distances from farm to slaughterhouse is partially responsible for the rapid spread of the disease in Britain.

Kester also said that there has been a notable increase in poultry sales since the outbreak of the disease, as people switch from beef to chicken. Chickens cannot catch the disease.

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

National Society of Genetic

233 Canterbury Drive
PA 19086
(610) 872-7608

National Foundation for Jewish Genetic

250 Park Ave.
New York,
NY 100ll

National Niemann-Pick Disease

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

The Neurobiology of Teshuvah

As a scientist and a believer in human progress, I have been concerned about how well the established process of teshuvah (repentance) has worked. Yom Kippur after Yom Kippur – in fact, since the 11th century – we have recited the same confessional prayer, “Al Chet.” If we were any good at repentance, shouldn’t the list have changed in 1,000 years? Even if we don’t want to change the ancient formula, shouldn’t we be able to feel that we had eliminated or reduced at least a few on the list? Yet the list of sins remains the same, as does the ritual for expunging them. Why haven’t we improved?

Perhaps we are genetically stuck. The newspapers and scientific journals are full of genetic determinism. Human geneticists, aided by the massive investment in the human genome project, have identified hundreds of genes in which specific alterations cause conditions that range from mental retardation to dyslexia. Mouse geneticists have created models not only of human disease, but also of mating and mental processing. One recent headline concerned genetically engineered male mice that spent more or less time grooming their mates, according to which piece of regulatory DNA they received. Other transgenic mice were better than their sibs in learning to find an underwater platform.

Or maybe we are stuck with the particular wiring of our brains. A person who suffers a stroke that affects one region of the brain cannot hear; another person can hear but cannot recognize words; another can recognize words but cannot identify a photograph of the President; another can recognize the President but cannot identify the function of a hammer or a screwdriver. Similarly, a range of neurological and neuropsychiatric disorders – many of which have genetic components – affect thought, memory, mood, and even religious experience.

In the face of such powerful biological constraints, can we really hope to change ourselves or our community? The answer is certainly yes.

It is true that genes determine the basic wiring of the brain and therefore the basic processing pathways for external information and internal feelings. But the brain is nothing if not a learning machine.

Neuroscientists talk about the brain’s plasticity, meaning that the brain can not only change but that it can also maintain those changes over time. Genes certainly influence many aspects of the brain’s structure and operations, but – as our everyday experience attests – genes alone do not determine who we are or what decisions we will make about our lives.

Evolution has produced a genetically programmed brain, adapted for plasticity. Humans may be hardwired to learn language, just as a songbird is hardwired to learn a song, but the particular language and the particular song depend on experience. We can also learn to pedal a bicycle, play a piano or putt a golf ball. While we learn these skills best during childhood, we maintain plasticity as adults.

In every case, learning changes the physical state of the brain. Even people who have suffered strokes or spinal cord injury can often recover lost functions during rehabilitation by practicing strategies that employ and strengthen alternate neural routes. Similarly, psychoanalysis and psychotherapy may well work by selectively entraining alternate neural pathways.

In the last few years, neuroscientists have been working hard to understand the nature of these changes, in humans and other primates, in mice and rats, even in fruit flies and sea hares. Several lessons have emerged. First, even without changing their circuitry, nerve cells can change the intensity of their communication with one another so that a particular circuit works more or less easily as a result of experience; a sea hare escapes more rapidly from noxious stimulus after several encounters, just as practice modifies our facility on a bicycle or a dance floor.

A particularly exciting recent discovery has been that, contrary to our previous understanding, some nerve-cell precursors preserve their capacity to divide even into adult life. These progenitors can generate new nerve cells in response to environmental stimulation. Putting young rats into an enriched environment (for example, by placing toys and other objects into their normally bleak cages) stimulates the proliferation of these cells, suggesting a cellular basis for the well-known benefits of a rich environment in early childhood. In the not too distant future, these neural progenitor cells may provide a means for repairing brains and spinal cords damaged by disease or injury.

Even without dividing, however, nerve cells can alter their shape and their connections as a result of environment and experience. Some of the most extraordinary such changes occur during the recovery from brain or spinal cord injury. Nerve cells – in both the brain and spinal cord – sprout new connections and make new signaling molecules. More heavily used neural pathways sometimes even take over from unused circuits, for example, in those pathways once connected to a now-amputated limb.

One well-known case involves an impressive man named Craig Dobkin, who was badly hurt in a climbing accident, severing his lower spinal cord so that he lost conscious control of his legs. Craig had some good fortune, however, in that his brother is Dr. Bruce Dobkin, Director of Neurorehabilitation at UCLA, a man who has pioneered new methods for retraining the brain and spinal cord after stroke and spinal cord injury. As a result of this retraining, Craig’s spinal cord has learned to pattern his leg movements even though it no longer communicates directly with the brain. The important result is that Craig can move on crutches, rather than only in a wheel chair.

Since his accident, Craig Dobkin has founded an organization called Play for Peace, which brings children from conflicting cultures together through cooperative play. The goal of Play for Peace is to promote positive relationships among people who have a history of intercultural tension, starting in Jerusalem with Israeli and Palestinian youngsters. By bringing children with unique backgrounds, values, and beliefs together through the seemingly simple act of play, Play for Peace sows seeds of compassion. It is as if Craig Dobkin has adapted his brother Bruce’s method of fostering spinal cord plasticity to the fostering of moral plasticity.

Our capacity for teshuvah is, I believe, a reflection of our neural plasticity. The limitations of our teshuvah do not reflect genetic programs, but the more basic problem of the nature of sin itself. Indeed, many of the sins listed in the “Al Chet” confessional seem to be rather subtle distortions of activities and thoughts that are positive: sinful meditations do not occur in an uncontemplative person; nor does contentiousness or scoffing arise in someone who has separated from the community; and sinful confession of the lips can only happen in someone who is moved to confession in the first place. Our problem then is to unravel the good from the evil. We need to increase our capacity to discern.

How can we take advantage of neural plasticity in making such important distinctions? To the extent that we can choose our experiences – internal and external – we can consciously change the workings of our brains, just as Craig Dobkin can consciously – if indirectly – change the workings of his legs. Just as we gradually learn to discriminate between creativity and cliché in literature, art, movies and music, we must train ourselves to discriminate morally between expansiveness and aggressivity, between involvement and voyeurism, between helpfulness and presumption. In our teshuvah, we must train ourselves to become connoisseurs of our own actions. The bad news is that this task is highly complex; the good news is that our brains are on our side – intellectually and emotionally. The meaning of the annual repetition of the same sins may be that our tradition recognizes that this struggle inevitably must continue from year to year.

For more information about Play for Peace, visit

Still Stigmatized

When Ofra Haza, the 41-year-old Israeli Yemenite singer, succumbed to complications of AIDS in February, she died under a heavy cloud of silence. But why? Was it because of the shame and guilt attached to the still stigmatized disease, or, as the Israeli media suggested, was there a darker, more sinister reason connected to her husband’s past?

Whatever the reason, it is a sad and tragic fact that Ofra Haza had to hide her disease from her community, a community that clearly loved and supported her. Since her death, many in Israel and the United States have felt that an opportunity to teach our children about AIDS has been lost. Lost too, perhaps, has been an opportunity for the Jewish community to come together and deal forthrightly with the taboo of AIDS.

Much has changed since the early 1990s, when many of us believed that the HIV virus that causes AIDS could be passed through a simple kiss. Over the last 10 years, most American Jews, like most other Americans, stopped thinking of AIDS as a “gay disease” or as punishment for sinful behavior, but as a virus that can be contracted through at-risk sex, intravenous drug use and (now, rarely) blood transfusions. We learned that the disease, although stabilized in the number of new AIDS cases in the United States, has accelerated among women and drug users, disproportionately affecting people of color.

The good news is that, although there is no cure for AIDS, new drug therapies, introduced in the mid-1990s, have dramatically changed the face of AIDS. For about half of those who have developed the disease, combinations of protease inhibitors have strengthened the body’s immune system and put a halt to opportunistic infections. Gone are the hospital AIDS wings, the support groups for the sick, the housebound patient, the need to hide: Many in the AIDS community have gone back to work, some to volunteer for AIDS organizations that once reached out to them.

But despite our education and awareness, AIDS remains a stigmatized disease, still associated with homosexual activity, difficult to discuss in public and sometimes difficult to discuss at all.

Enter Rami Aizic, specialist for the HIV/AIDS Program of Jewish Family Service (JFS) of The Jewish Federation of Greater Los Angeles. Aizic, at over six feet, with movie-star good looks, is an immediately inviting presence. A virtual one-man band — HIV/AIDS counselor, grant writer, pantry supervisor, spiritual counselor and idea-generator — Aizic, who has degrees in law and marriage and family therapy, has been running the program since 1998. At present he carries a caseload of 100 clients, three-quarters of them Jewish.

As a counselor who specializes in HIV/AIDS and Jewish issues, he’s the one clients seek out before telling family members of their status, or the one they ask to handle important details at the end of their lives. But the one thing Aizic can not help with today is how many Jews have HIV or AIDS. To date, no data on Jews and AIDS exist.

“That has a lot to do with the problems of the Jewish community — that being, we are a very insular group,” Aizic offers. “We don’t like to talk about uncomfortable things or things that will bring, or may bring, perceived shame or guilt. Even today, there seems to be a disproportionate amount of belief that AIDS is something to keep quiet and not to discuss. It’s Reform, Conservative, Progressive, Orthodox — across the board in Jewish life.”

Still, the Orthodox are the most stringent in not talking about AIDS, says Aizic.

“They believe [AIDS] is confined to a specific population, and they do not belong to that population. I have several Orthodox clients who don’t even want to come into this building for fear that if someone from their community sees them with me, it will be understood, through association, that they have a connection to the AIDS world and in turn to the gay community, and that will cast a negative mark.

“For Jews, there’s a real identification with community. To be singled out, for whatever reason, is not a comfortable thing — there’s the shame of being less than.”

This fear of being singled out, not fitting in, being judged by others, spills over to other chronic illnesses, as well, according to a middle-aged professional, who asked to remain anonymous. He tells his own story of a chronically ill family member who had been ostracized within the Orthodox community. When he approached his rabbi for help on how to handle the situation, he was stunned by the rabbi’s unsympathetic response: Why are you coming to me, the rabbi wondered.

“If something is different about someone, or they have a chronic disease, there’s an attempt to hide, not to mingle with that individual,” the man said bitterly. “My family was treated similar to how an AIDS patient would be treated.”

“We have to be much more open to helping people with serious illnesses,” says Rabbi Rafael Goldstein, the author of “Being a Blessing: 54 Ways You Can Help People with AIDS.” A former chaplain for Los Angeles Jewish AIDS Service and the director of San Diego’s Jewish Healing Center, Goldstein believes that though the Jewish response to AIDS was appropriate and supportive, we still have a long way to go in dealing with the spiritual isolation of those with chronic and long-term illnesses.

Referring to the AIDS epidemic, Goldstein poses the question: “Didn’t we learn anything?”

Rabbi Levi Meier, chaplain of Cedars-Sinai Medical Center, believes we did.

“We as Jews never place a value or judgment on an illness; the Talmud says when a person is in pain, we must show compassion and provide a remedy. We never put the person in isolation, which makes the person feel worse,” says Meier. “Negativity towards AIDS has not been my experience at all.”

But Alex (not his real name), a Jewish man who has had the disease for 12 years, believes we didn’t learn enough.

“The Jewish communal response to AIDS just wasn’t there,” Alex reports. “It was a struggle [in the early days of AIDS], and it’s a struggle still.”

He believes that if it weren’t for Congregation Beth Chayim Chadashim — a synagogue founded in 1972 to serve gays and lesbians, which ushered in the idea of a Jewish response to AIDS — there might not have been any response at all. “Any controversy, anything that might offend anyone, any disease associated with sex makes people afraid: ‘Let’s just keep quiet, it’s too embarrassing, too shameful. We don’t want to talk about it,'” Alex says.

Spotlighting a Neglected Disease

When Pam Acosta’s mother, Rose, was diagnosed with pancreatic cancer in June of 1996, Acosta was at a loss. The only thing she knew about the disease was that it claimed actor Michael Landon’s life. “The doctors offered no answers, no hope. Only a three- to six-month sentence,” says Acosta. In anguish, she wondered, “If Michael Landon couldn’t save himself, how can I save my mother?”

Acosta promptly jumped on the Internet to learn about the disease. What she discovered was discouraging. Symptoms generally do not occur until the disease is in advanced stages; life expectancy is three- to six-months. According to the American Cancer Society, little is known about the causes and prevention of pancreatic cancer, which will claim close to 29,000 lives this year in the U.S.

While searching the Internet, Acosta found herself on the Johns Hopkins Medical Institute’s website, which included a posting board for pancreatic cancer patients and family members. She soon became part of a geographically far-flung support group that shared information, frustrations and grief. She continued to participate in the chat room, even after her mother passed away, six months after being diagnosed.

One thing Acosta learned was that Ashkenazic Jews, such as Landon himself, are at greater risk of getting this cancer. Carriers of the BRCA2 cancer gene, inherited by 1 percent of all Askenazi Jews, have a 10 percent chance of developing pancreatic cancer.

From the moment Acosta started learning about pancreatic cancer, she couldn’t help but feel that too little attention was focused on the disease, which is the fourth highest cause of cancer deaths in the U.S. among both men and women. Part of the reason, she surmised, is that it “hits so hard and fast, those left behind are left speechless.”

She noticed that other diseases seemed to get attention — and ultimately, research funding — through affiliation with high-profile celebrities. She did some research and found that a number of celebrities, in addition to Landon — Henry Mancini, Donna Reed and Juliet Prowse, to name a few — had died of pancreatic cancer. She started contacting celebrity families and others to see if they would get involved in raising the profile of this seemingly neglected disease.

Soon, she had a growing list of people willing to lend their names to her cause, including Michael Landon, Jr., Tommy Lee Jones, Patti LaBelle, Samuel L. Jackson and Nancy Wilson.

With those names to work with, Acosta and her nationwide network of Internet contacts found themselves planning a Beverly Hills dinner to raise awareness and research funding for pancreatic cancer. Last November, they held an “Evening With the Stars,” which attracted 450 guests and grossed $165,000.

The group gave the money to Dr. Michael Goggins of Johns Hopkins, who, through his laboratory, was concentrating on early detection of pancreatic cancer. Early detection can increase survival rates for pancreatic cancer by up to 40 percent, but there are currently no effective tests available.

Pleased with the dinner’s results, Acosta wanted to broaden her group’s focus. She formalized the Pancreatic Cancer Action Network (PanCAN) as an advocacy organization, along with co-founders Terry Lierman and Paula Simper. Acosta serves as the organization’s president while maintaining a full-time job as vice president of a metal recycling company.

For this years successful dinner, which was held Nov. 7 at the Beverly Hilton Hotel, Acosta had a secret weapon in organizing: an enthusiastic volunteer named Stephanie Davis.

An attorney and mother of two from Sherman Oaks, Davis, like Acosta, was devastated when her mother, Helen Pollak, was diagnosed with pancreatic cancer in March of this year.

“I never knew what a pancreas was,” says Davis, who, also like Acosta, promptly got on the Internet to learn more about the disease.

Davis’s search, too, led her to the Johns Hopkins website, where she found a link to PanCAN. She e-mailed the organization to ask for help, and promptly got a response from Acosta.

Soon, said Davis, she had found her “mission.” She has helped organize fundraisers, review contracts between PanCAN and celebrities who will be appearing in public service announcements for the organization, and answer the group’s phone line when the executive director is unavailable.

While Davis waits for these developments to come to fruition, she will continue to fight for PanCAN’s mission and hope for the best for her mother.

“If I’m not doing all I can to make people aware of this disease,” says Davis, “I’m not doing her justice.”

For more information , call PanCan at: (877) 2-PANCAN or visit

Conquering A Disease

Los Angeles residents Pam and George Smith never expected to create a foundation that would raise more than $4 million for research. But then, they never expected their daughter to be born with a genetic disease so rare that it effects only between 500 to 1,000 Americans.

In the early 80s, Becca Smith seemed like any other happy, healthy infant. When it came time for her to advance from toddling to walking, however, Becca remained unusually wobbly. Medical tests initially indicated cerebral palsy. But eventually, a pediatric neurologist grew suspicious and decided to run additional tests. When the Smiths inquired about the doctor’s concerns, he chillingly responded, “You don’t want to know.”

Becca was diagnosed with Ataxia Telangiectasia (A-T), a rare, progressive neurological disease. A-T effects the nervous and immune systems, causing loss of balance and increased frequency of infections. It has no known cure. When Becca was diagnosed with A-T in 1983 at the age of five, life expectancy was estimated at teens to early 20’s.

The Smiths were determined to learn all that they could about this rare condition, but they found little information. At a time before the Internet, George and Pam Smith had to conduct their own fact finding mission, traveling across the county for information. What they uncovered was meager and discouraging. Speaking to scientists at the National Institutes of Health, the Smiths were told that, because of its rarity, A-T was an “orphan disease” and “not a funding priority.”

Eventually, the Smiths discovered that a doctor in Los Angeles, Elena Boder, had originally diagnosed and named A-T. When they contacted Boder, she introduced the Smiths to Dr. Richard Gatti, a match that would change the course of the disease.

A Professor of Pathology and Laboratory Medicine at UCLA, Gatti was studying A-T as a model for understanding the relationship between immunology-how the body protects against disease and infection-and cancer. When Gatti described his research to the Smiths, George was sufficiently impressed to ask Gatti how much he would need to sustain his lab and concentrate on research. The answer was $100,000.

Smith responded, “You’ve got it. I’ll do it.”

Gatti also told the Smiths about a researcher named Yossi Shiloh, who was setting up a lab in Tel Aviv and needed $25,000 a year. Again, George responded, “You’ve got it.”

The Smiths are no strangers to charitable activities. George, Chairman and CEO of a real estate financing company, has received the Man of the Year Award from the Jewish Federation’s Real Estate Division and chairs the Israel bond appeal at Sinai Temple. Pam has earned the Federation’s Lion of Judah designation, and raises funds for the Museum of Contemporary Art, where she serves as President of the Project Council.

But after committing funds to Gatti and Shiloh, says George, the couple realized, “We better start up a foundation and start raising money from our friends.”

In 1984, the Smiths began the Ataxia-Telangiectasia Medical Research Foundation (A-TMRF), beginning what George calls a “sixteen year odyssey … to slow the progress of the disease and … someday find a cure.”

To generate funds, Pam initiated an annual luncheon. Now in its 13th year, the event attracts about 200 women. Soon George instituted the annual “George Smith Partners Real Estate Luncheon,” which attracted more than 1,600 professionals this year. He also began a program for senior real estate executives, offering an exclusive Executive Luncheon Series in exchange for a $2,500 membership. The fruits of these endeavors have enabled the A-TMRF to fund a permanent laboratory for Gatti at UCLA, develop Shiloh’s lab in Tel Aviv, host three International Medical Conferences on A-T and award research grants to scientists throughout the globe.

When Gatti first met the Smiths, he had just petitioned the NIH for a grant to locate the chromosomal region of the A-T gene, but was told that the task he proposed was “Herculean” and “would probably never reach fruition.” The Smith’s funding enabled him to take the time needed-14 years-to pursue the task.

“Federal funding is notoriously fickle,” explains Gatti, noting that the NIH likes to see substantial progress on research it has funded within three years. Without the A-TMRF, he says, the project would have “died on the vine.”

In 1988, Gatti and his lab made history by locating the chromosome which carried the A-T gene. Gatti’s work cleared the way for a second major breakthrough in 1995, when Dr. Yossi Shiloh’s lab in Israel cloned the A-T gene. This meant that researchers could finally study the A-T gene instead of looking for it, turning their attention to developing ways to treat patients and slow the disease’s progression.

Now, A-T has gone from a disease that Gatti says, “my colleagues couldn’t pronounce” to a hot research area. Approximately 200 laboratories throughout the world are presently involved in research on A-T, compared to only a handful just a decade ago.

The NIH recently awarded Gatti and a colleague $2.4 million to further study A-T and its relationship to cancer.

But as research progresses, the clock continues to tick for Becca, now 21 years old. Scientific developments have meant improvements in diagnosis of the disease, but still no cure or treatments.

A-T has robbed Becca of her ability to walk without assistance. Her speech is slurred and she depends on others for assistance with writing and dressing. Although Gatti says life expectancy for A-T patients in the U.S. has climbed to the 30s and 40s, the Smiths can’t help but wonder whether the research will progress quickly enough to help their daughter.

But Becca, whom Gatti says is “in good health,” seems to live her life in the present. She graduated high school and is enrolled in Moorpark College in pursuit of an Associate of Arts degree. Four years ago, the Smiths moved from the westside to Calabasas so Becca could ride horses, an activity she began at the age of nine. Riding, swimming and working out with a physical therapist helps keep Becca strong.

Now, like her parents, Becca has gotten into the fund-raising game. In May, she and Pam opened Becca’s Chic Boutique, a designer resale shop on Ventura Boulevard in Woodland Hills. “We have great clothing from many of the top designers with stores on Rodeo Drive,” Becca boasts. Of course all proceeds benefit the A-TMRF.

George Smith says that the A-TMRF’s luncheons and programs provide him with “a venue to strike at the consciousness of people.” In all his various activities, says Smith, “My theme is: Go do something constructive with your life.” The approach seems to run in the family. To find out more, call A-TMRF at (818) 704-8146.

A Magical Season

A typical seventh-grade essay might be about a soccer game, a trip to the mall or a favorite pet. But Mathew Rudes isn’t a typical 12-year-old, and the essay he wrote for his first-period English class at Porter Middle School in Granada Hills earlier this year wasn’t typical either. It was about pain, a subject Mathew knows about all too well.

Mathew has a very rare form of Marfan Syndrome, a disease that affects the body’s connective tissue — and consequently practically every organ in Mathew’s body — except his extraordinary mind. It is usually passed down from parents, but in Mathew’s case, it was a spontaneous genetic mutation. When he was born, doctors told his mother, Carol, that Mathew probably wouldn’t live. But he has lived longer than most of those who have Marfan Syndrome and has become part of a UCLA study. But his life as been anything but easy. Already he has had two heart operations. In any given week he could go into the doctor three or four times. He lives under a terrible cloud — the possibility that his aorta could swell and burst at any time. Carol, his mom, is on call 24 hours a day. And on Rosh Hashanah this year, Mathew ended up in Children’s Hospital for 10 days.

When Mathew was well enough to do some school work, he wrote the essay about his experience for his teacher, Mrs. Illig. She said it was the best personal essay she’d ever read. But this wasn’t the only writing Mathew had done. When the Starlight Children’s Foundation granted him his wish for a laptop computer, he whipped out a story called “Monstress Mayhem,” about a boy with special powers who confronts an evil queen and an army of dragons in a land called GinGin. Mathew finished the 155-page story before he had finished the sixth grade. The tale was even picked up by a production company after Mathew was featured in an L.A. Times article.

Lately Mathew hasn’t been able to write much because he has been too ill. “That’s one of the things that’s very depressing to him,” his mother says. “Writing was his way of handling his energies.” But last summer, Phyllis Folb, director of marketing and communications at Starlight (and former head of PR at the Jewish Federation) asked Mathew to make a Chanukah card for the organization, which grants wishes to seriously ill children. Mathew drew the card on his computer, hand-colored it and wrote this inscription inside: “May a piece of the magic stay with you every day of the year.” He quizzed Dr. Michael Joseph, his UCLA pain management doctor, on the card’s meaning. Joseph, like many of Mathew’s physicians is Jewish and understood immediately. The star of David surrounded by shards of color spreading in all directions represented the special quality of Chanukah. The beautiful multihued stained glass was the holiday joy that people could carry away with them. The Magen David alone remained unbroken.

The star may also be a symbol of Mathew, a brave 12-year-old who won’t let pain defeat him. To purchase Mathew’s card or other Starlight holiday cards, call (877) 316-STAR (7827).

Ruth Stroud, Staff Writer

The Editor’s Corner

My mother is87. Or is it 90? As long as I can remember, I thought that she hadbeen born in 1910, was named Miriam Euffa, and brought here from Kievas a 5-year-old by parents who were educated, and who had been partof what must have been a turn-of-the-century minority: theRussian-Ukrainian Jewish professional class. Now Medicare tells methat her Social Security card lists her year of birth as 1907.

At this point, I ask myself, what difference canit make? My mother has Alzheimer’s. The disease has ushered her intoa realm where days, weeks, years hardly seem to matter. Until just afew days ago, she resided in Cedars-Sinai Medical Center, where shewas recovering from pneumonia (which she apparently contracted aftershe broke her hip and underwent surgery at Midway Hospital inJanuary, followed by three weeks of physical therapy at the BeverlyHills Rehabilitation Center in February).

Thanks to her two-month period of extended stay inthese three separate medical facilities, I have become knowledgeable(and dismayed) about hospital life for the elderly. I have watched mymother move rapidly from living as a woman who was mobile,semi-independent and trapped in the early stages of Alzheimer’s tosomeone who is now a patient, stripped bare, functioning in a stateof helplessness, or what a doctor described as delusionalpsychosis.

Is this a natural decline, one in which the bodymalfunctions and the Alzheimer’s mind quickly follows suit? Or is it,in some large measure, a fallout from our cutting-edge,multimillion-dollar corporate hospital system? I have come to believethat this health-care system, with the best intentions in the world,failed me and the aging parent I turned over to their highlyspecialized care.

I know, this could just be my way of release, anexpression of despair, depression and, yes, an underlying ragebursting through after months of frustration. My mother enteredCedars because she had been overmedicated and had become highlyagitated. Once she was admitted, Cedars’ proficient medical expertisecame into play: Tests were given; X-rays taken; new medicationprescribed. It became evident that several weeks earlier, either atMidway or at the Beverly Hills Rehab Center, water had settled in herlungs. She had contracted pneumonia, but it had not shown up before,or else no one had noticed.

Treatment for pneumonia moved into high gear, but,in the process, her mind became more disoriented. Medication for herdementia became a hit-and-miss affair as doctors struggled valiantlyto find a combination of drugs and a proper dosage that would serveher (and the nurses) well. And I rediscovered what had begun to dawnon me earlier– namely, that the operating procedures at all threemedical facilities ran counter to my mother’s particular needs. Toput it bluntly, while the pneumonia was checked, her mental stateslipped radically. She needed individual care, and that apparentlywas outside the hospitals’, and the rehabilitation center’s, range ofcaregiving — in part for budgetary (read financial) concerns, inpart for organizational reasons. Had I known then the limitations andconsequences of her hospital care, I would have limited her stay ineach medical institution to a bare minimum.

The catalog of breakdowns over the two months hasbeen extensive, but I will cite only a few. At Cedars, for example,someone had been inattentive and let my mother struggle out of bedalone. She has no short-term memory and, so, is unaware that shecannot yet walk. The result: She fell on her head. A quick trip toX-ray revealed that this 90-pound 90-year-old sustained only a bump,soreness and some swelling. No concussion, no broken neck or hip, nosevere damage. And no immediate or direct communication withme.

In part, because of this fear for her safety, thenursing staff began tying her down in a quite effective way: arestraining band across her chest and, at times, her feet strapped tothe ends of the bed frame. I walked in once at Cedars to find herscreaming frantically for help, unclear where she was (she thoughtprison) or why these people had tied her down and locked the door.She was agitated and terrified. And convinced that the nurses wereplotting against her. Why else would they treat her this way?

The nurses were clearsighted about the answers.First, she was “restrained” to protect her from falling and breakingher hip again. Second, the door was closed because she made too muchnoise, calling for assistance or simply asking for attention. Inshort, she was a nuisance, and there was neither time nor staff tofill these needs of hers. She was being protected for her own good,to be sure, but there was a strong likelihood, as her doctorsverified to me, that she also was being driven mad.

“The reality is,” explained one of the nurses, “weare not equipped to give patients one-on-one care. Someone like yourmother needs an available nurse around the clock. We don’t providethat.” Hire private nurses, one of her doctors advised me. Eitherthat or send the family to care for her.

The difficulty appears to be that the system inplace is designed for maintaining order and organizationalefficiency, for diagnosing and treating illness, for deliveringbabies and removing someone’s appendix, for heart surgery andrespiratory ailments, but not necessarily for the individual care ofthose elderly who require personal attention. “Get your mother out ofhere as soon as possible,” a staff member at the rehab centerconfided to me when I complained that my mother’s needs were oftenignored and that her bed often reeked of urine. “This place hasexcellent facilities and people for physical therapy,” I was told,”but is totally unprepared to deal with Alzheimer patients.”

The problem largely has to do with money. Theresimply are not enough funds available to cover one-on-one nursingcare. Or at least it is not given high enough priority. Hospitals arestruggling to raise dollars in order to provide decent medical care.Medicare payments barely scratch the surface of costs andexpenses.

Fault also lies with the nursing system that hasbeen put in place. Nurses rotate on 12-hour shifts and are assignedeight or nine different rooms and patients each shift. What they arenot given is a set of individual men and women whom they follow fromadmission to release. The process works against the possibility thatnurses will become familiar with the rhythm of a patient’s life, orthat they will empathize or bond with anyone in their care. It makesfor impersonality when precisely the opposite is often desperatelyneeded for many seniors.

It also leads to a reporting system that isparticularistic but rarely complete. Nurses can only report todoctors what they have observed during their shift: percentage offood eaten, medication taken, a rasping cough, agitation. But thereis little intimate linking of these facts to the rise and fall of apatient’s mood, spirits or progress. When I made these observationsto a doctor, he exclaimed, wearily, that he had been fighting thatbattle (in vain, he implied) for more than 10 years.

One evening, when I slept in my mother’s room, Iheard a woman crying for help. She was half awake, half asleep nextdoor. I looked to see if a nurse was available. Yes. Someone was atthe nursing station, another nurse in the corridor. I went back tobed. But the cries — a constant moan now from a wan, elderly,delirious woman — continued. It had become half plea, half chant. Islipped into her room, touched her forehead and held her hand. Shequieted. What she seemed to want was assurance that she was notalone, abandoned in some strange, twilight world.

In fairness, I should add that not all the nursesare inured to the plight of patients or exhibitthis form ofdistance. Two, in particular, who pulled a shift with my mother –Marlene Williams and Daisy da Silva — responded to her in verycaring ways. But then I discovered they were LVNs (licensedvocational nurses), subordinate to the RNs. They had not had time, Ithought, to be subsumed by the system.

Then there are the physicians. They are the Lordsof the Manor, but, alas, mostly visiting Lords. The doctors I came toknow at Cedars, those responsible for my mother’s well-being — JayJordan, a cardiologist and her main physician; Ronald J. Davidson, apsychiatrist and her geriatric doctor; and Martin Gordon, a pulmonaryspecialist (along with Isaac Schmidt, her surgeon from MidwayHospital) — were all splendid, top-of-the-line, well-trained, caringand straightforward. No sentimentalizing, no euphemisms. Concernedfor their patient and concerned for me.

The gap between them and the daily life of thehospital — where, for the most part, they diagnose and prescribe forpatients and seem to function somewhat like specialized consultants– is enormous. They speak to the relevant nurses, who implement thecare, but who manage patients according to rotational shifts.

What gets passed along then are literal messages,often by telephone: Do this; stop that; change the medication. Allwritten down and passed along from one nurse to another. The rest,the details, the context, the exceptions, the parenthetical asides,the possibility that something may be amiss outside the illness thatis being treated, these all fall between the cracks. There are fewlengthy exchanges — little in the way of discussion.

It will probably come as no surprise to you thatabove and beyond the hospital bills, which Medicare and my mother’ssecondary insurance mainly covered, I hired two private caregiverswho agreed to look after my mother in the hospital, each taking a12-hour shift six days a week. They were not registered nurses,though they had considerable experience caring for seniors,particularly those with Alzheimer’s. The doctors listened attentively(and with gratitude) to their comments on my mother’s health andstate of being, for these caregivers became the best and mostconsistent guide to her moods, her behavior and her health — eventhough they were outside the hospital’s regimen and were notofficially accountable or responsible for her medicaltreatment.

I realize after the fact that what I had set upwas a process of caring for the sick and dying outside the legalentity we call a hospital. Actually, it is a practice I firstobserved more than 30 years ago, when I was a young journalist inWest Africa. There, I witnessed a handful of overworked well-traineddoctors ministering to more people than seemed humanly manageable.Alongside them, an overwhelmed cadre of nurses, not trained well byour standards, tried their best to render patient care underconditions that would never pass muster in the United States.

But every family shared the burden of caring fortheir sisters, brothers, parents, nieces and nephews by moving intothe hospital room. They remained there until it was possible to bringtheir relative home — or until death silenced everyone. It is ironicto me that in the midst of high-powered multimillion-dollar medicalinstitutions, great and wonderful and humane complexes, complete withsuperbly trained doctors, that is where I now find myself.

Early last week, I spoke to my mother’s doctors.Was there any point in keeping her in the hospital? I asked. Couldshe not just as easily be ill at home? Perhaps with more dignity? Andperhaps with more personal attention, since the two women who tendedher in the hospital will take turns living and caring for her. And ifshe is dying, is it not more humane to let her live her last monthsin her apartment, surrounded by familiar objects and personal voices,than in a hospital room? A place where we can all eat and laughtogether, touching her and letting her eavesdrop on us as we play outthe cycle of our lives?

Their answers were rational, direct, filled withcommon sense. Last Saturday, I removed my mother from the hospital.We carted home an oxygen connector and a backup tank. — GeneLichtenstein, Editor

For a story with a happier ending, see WendyMadnik’s description of The Jewish Home for the Aging.