Much hope despite many challenges


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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

Yes, I have Tay-Sachs Disease


Growing up, I always felt different from the other kids. I had difficulty speaking clearly, was always the slowest runner in my physical education class or last person picked on any sports team during school. Simple daily tasks had always seemed a bit more difficult for me. I had trouble opening jars and containers, terrible handwriting and was very clumsy. Spilling and dropping things at the dinner table was not unusual for me.

Teachers, friends and my parents didn’t know what attributed to these happenings. Even medical doctors were puzzled. For years, as a kid and teenager, my parents had me attending speech therapy every week. But they, too, found it a mystery why my speech was slurred and didn’t seem to improve through the years. I was lectured about not practicing enough, but it wasn’t true, I did try my best. The results were frustrating and I resolved to just accept things instead of growing angry or depressed. I got used to my speech and growing up being “different” than most kids — being the slowest runner, the kid who had trouble jumping, playing sports or being coordinated. To me, I was normal. Maybe I wasn’t the kid who was athletic, coordinated, or who had legible handwriting, but normal.

Despite my physical and speech problems, I always was a good student academically. I was good at writing, spelling and math computation. I had the best memory in my family, small details always stuck. But reading comprehension and math word problems were always more problematic. Nothing seemed to be mentally wrong. In fact, I completed college and studied abroad in Israel.

After my college years, my parents and I learned about a disease that was the cause of all my abnormalities. It was through a blood test my mother had me take after she suffered from a miscarriage. The cause of her miscarriage was Tay-Sachs disease, a fatal genetic disorder, most commonly occurring in children, that results in progressive destruction of the nervous system.

Tay-Sachs is caused by the absence of a vital enzyme, hexsaminidase-A (Hex A). Without Hex A, a fatty substance or lipid, called GM2 ganglioside, accumulates abnormally in cells, especially in the brain. This ongoing accumulation causes progressive damage to the cells.

In children, the destructive process begins in the fetus early in pregnancy. However, a baby with Tay-Sachs disease appears normal until about six months of age when its development slows. By about 2 years of age, most children experience recurrent seizures and diminishing mental function. The infant gradually regresses, and is eventually unable to crawl, turn over, sit or reach out. Eventually, the child becomes blind, cognitively impaired, paralyzed and non-responsive. By the time a child with Tay-Sachs is 3 or 4 years old, the nervous system is so badly affected that death usually results by age 5.

The blood test that was given to me revealed that I suffered from a rare form of Tay-Sachs disease called Late Onset Tay-Sachs (LOTS) disease. LOTS is a lysosomal storage disorder caused by low levels of the Hex-A enzyme in older children and adults whose symptoms include ataxia (lack of coordination), dysarthria (slurred speech) and muscle atrophy (muscle weakness). Muscle cramps, especially in the legs at night, and fasciculations (muscle twitching) are common. Not all symptoms are present in every individual affected by the disease; weakness of the muscles, however, is a symptom common to all. Many adults are relegated to living their lives in a wheelchair because of the progression of their leg muscles.

As I have grown up into an adult (into my early 30s) the effects of this disease have taken a greater toll on my body. My legs have grown progressively weaker, which has made daily tasks more difficult. I have trouble climbing stairs or curbs, getting up from chairs, keeping my balance and running or jogging. I have fallen several times in the last year, resulting in stitches, bruises and scrapes. Also, I have experienced cramping and stiffness in my arms and legs.

In addition, finding or keeping employment has been very difficult. I have lost employment because of my slurred speech and feel discriminated against each and every time I go into an interview. The disease has also not allowed me to be coordinated enough to be able to touch type, which is required for many jobs.

Currently, there is no treatment available for LOTS. I participated in a clinical drug trial, with about 30 people across the country, to try and stop the progression of symptoms for a year and a half. The results were minimal and the favorable affects of the drug were only temporary. In addition, the drug prompted terrible gastrointestinal problems as a side effect.

It has been a challenge to locate people who are affected with this disease, as many are misdiagnosed with other disorders that have similar symptoms. Tay-Sachs has always been known as infant disease and often mistaken by the medical community for diseases such as Multiple Sclerosis, Amyotrophic Lateral Sclerosis (ALS, better known as Lou Gerhig’s Disease), Muscular Dystrophy or Parkinson’s. This may happen because sufferers tend to be at different levels or progressions of this disease.

My family has been very supportive of me and my struggles. My mother has recently started a nonprofit foundation to raise awareness for both research and education of the lay and medical communities. Our goal is to locate more people and families afflicted with this horrible disease and to make it a community effort to donate funds to find a cure or treatment. Hopefully, this will happen in the near future, preventing me from being relegated to a wheelchair.

I would like to spread the message of awareness to the community and thankfulness to my family. Tay-Sachs is not just an infant disease and not exclusively a Jewish disease. Testing is important and easily available.

A champagne brunch to raise funds and awareness will be held Sunday, Dec. 9, 11:30 a.m. at Braemar Country Club. For more information, call Bonnie Pastor at (818) 205-9644.

Live and Be Well


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