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Live and Be Well

Late Onset Tay-Sachs disease is a rare and troubling disorder


by Barbara Shapiro

June 3, 1999 | 8:00 pm

Susan Fishbein was a clumsy child. She couldn't climb stairs without falling. She was always dropping things, always spilling things when she poured. In 1983, after a bout with pneumonia, Fishbein, then a 33-year-old mother of two, living in Erdenhiem, Del., began falling more frequently. After breaking both ankles and suffering a severe knee injury within a few months, she began a round of medical tests.

Four years and numerous misdiagnoses later, a blood test revealed the shocking news: Fishbein's coordination problems were symptoms of Tay-Sachs, a disease previously thought to affect only infants, who usually succumb by the age of 5. Fishbein was among the first adults recognized to be suffering from a rare variant of Tay-Sachs disease, known as Late Onset Tay-Sachs (LOTS).

People with LOTS are predominantly of Ashkenazic Jewish descent, although the disease also occurs in other ethnic groups. While there are fewer than 100 known cases of LOTS, the prevalence of this rare disease is estimated to be one in 67,000 within the U.S. Jewish population. Specialists believe that the actual number of individuals who carry this disorder is probably higher. The higher number would include some people who have been incorrectly diagnosed with amyotrophic lateral sclerosis, or Lou Gehrig's disease, or spinal muscular atrophy, also known as Kugelberg-Welander disease.

Individuals with LOTS usually come to a physician's attention in early adulthood, when they notice difficulty walking or going up and down stairs. However, what is unusual in these individuals is the additional presence of problems of balance, slurred speech and, in some cases, hand tremors.

Families of affected individuals often note that their speech is becoming increasingly difficult to understand. Another unusual feature of this disorder is the presence of psychiatric disturbances in a large number of cases. Physicians have come to recognize that such psychiatric disturbances, especially manic-depressive disorder, can be symptoms of LOTS.

The same gene causes both the infantile and late onset forms of Tay-Sachs disease, but the defect caused by the gene -- a deficiency of the hexosaminidase A enzyme -- is less severe in Late Onset Tay-Sachs. The pattern of inheritance is the same for both forms of the disease. LOTS can be diagnosed by a blood test that measures enzyme levels. Getting the correct diagnosis and receiving medical care from health professionals who are well-acquainted with the disorder is particularly important if psychiatric problems are present.

There is no known cure or treatment available for Late Onset Tay-Sach, yet those affected now have a glimmer of hope that one may be found. Doctors around the world are in the process of conducting experiments with enzyme replacement and gene therapy. Dr. Evan Snyder, a Harvard neurologist, has already cured the disease in mice. With continued research, Snyder said a human cure may be close.

Unfortunately, government funding for rare diseases such as Late Onset Tay-Sachs is almost nonexistent. Tay Sachs awareness peaked during the 1970s, said local LOTS fund-raiser Bonnie Pastor, and then fell off dramatically. Private donations are necessary for research and education. There are 150 other similar lysomal storage diseases such as Late Onset Tay-Sachs; research on one will help all.

If you or someone you know is interested in more information on Late Onset Tay Sachs, please call (800) 672-2022; e-mail at mpf@bellatlantic.net; or write to Late Onset Tay-Sachs Foundation, 1303 Paper Mill Road, Erdenheim, PA 19038. A local contact is Bonnie Pastor (818) 906-3814

Barbara Shapiro, M.D., Ph.D., is director of the clinical neuromuscular unit at Massachusetts General Hospital. M. Priscilla Short, M.D., is director of the neurogenetics unit, University of Chicago. They co-chair the Late Onset Tay-Sachs Foundation's medical advisory committee.


Parents,

Ask the Doctor

Somewhere there is a parent who doesn't have a thousand worries about his or her children's health. We just haven't met that kind of parent yet. For the rest, there's a place you can go for answers.

On Wednesday, June 9, at 7:30 p.m., Childrens Hospital Los Angeles and the Jewish Healthcare Foundation -- Avraham Moshe Bikur Cholim "Hearts of Angels" program will unite to present "An Evening Dedicated to Our Children's Health" at the Hotel Nikko. The event is free and open to all.

A panel of selected community pediatricians and pediatric specialists will answer your questions on any and all health concerns about raising children from infancy to adulthood. The event chair is Dr. Robert Adler, associate chair of Childrens Hospital and vice chair of USC School of Medicine's department of pediatrics.

The doctors will take questions, or you can fax or e-mail them in prior to the event.

"Parents and physicians have greater constraints on their time," said Rabbi Hershy Ten, president of the Jewish Healthcare Foundation. "As a result, issues and concerns are not always adequately discussed. Parents must assume a greater responsibility in their children's health care, and information and understanding is vital in this role of parenting."

The Jewish Healthcare Foundation -- Avraham Moshe Bikur Cholim is a nonprofit organization that provides subsidized health care services and social assistance to needy families throughout Los Angeles and California. Some of the philanthropic services provided are medical and diagnostic subsidies, the "Bikur Cholim House," health care campaigns, social support and patient advocacy. One of the many goals of the Jewish Healthcare Foundation -- Avraham Moshe Bikur Cholim is to expand access to affordable quality health care for individuals and communities.

Childrens Hospital is among the four top-ranked pediatric institutions in the country, and is rated the best in the Western United States, according to US News & World Report.

Reservations are required for the free event. Parents only. Discounted hotel parking. For more information, call (323) 852-0728, fax (323) 852-0727, e-mail jhfambc@aol.com. -- Staff Report

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