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.