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Personal stories
Living With Late Onset Tay-Sachs, It’s Not Just An Infant Disease

Growing up as a kid I always felt different than 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. In addition, I was never able to ride a bike or roller skate like most of my friends. What was wrong with me? Why did everything seem so hard?

Teachers, friends, and my parents didn’t know what attributed to these things. Even medical doctors were puzzled. For years, growing up as a kid and teenager my parents had me going to speech therapists 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. The results were frustrating and I resolved to just accept things instead of growing depressed or angry. 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 during pregnancy. The cause of her miscarriage was a disease called Tay-Sachs disease. Tay-Sachs disease (TSD) is 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 called hexosaminidase-A (Hex-A). Without Hex-A, a fatty substance, or lipid, called GM2 ganglioside accumulates abnormally in cells, especially in the nerve cells of 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 two 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 three or four years old, the nervous system is so badly affected that death usually results by age five.

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 (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 proximal 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 30’s) 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, keeping my balance, running or jogging. I have fallen several times in the last year, resulting in stitches, bruises, and scrapes. In addition, 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 to try and stop the progression of the 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 affect. About 30 people across the country participated in the drug trial.

It has been a challenge to locate people who are affected with this disease, as many people are misdiagnosed with other disorders that have similar symptoms. Tay-Sachs has always been knows an infant disease and often mistaken by the medical community for diseases such as Multiple Sclerosis, Amyotrophic Lateral Sclerosis (ALS), Muscular Dystrophy, or Parkinson’s. This may happen because sufferers tend to be at different levels or progressions of the disease. My family has been very supportive of me and my struggles that have impaired me because of LOTS disease. My mother has recently started a non-profit foundation to raise awareness and money for both research and education of the lay and medical communities. Our goals 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 for this disease that so few people know about. 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. Tay-Sachs is not just an infant disease and not exclusively a Jewish disease. Testing is important and easily available

I am a 41 year old female with ‘Late Onset TAY-SACHS’

I am a 41 year old female with ‘Late Onset TAY-SACHS’ disease. Tay-Sachs is a rare muscle disease that is characteristically defined by genetics. At this time there is no treatment for Tay-Sachs disease. There is no official medication for my disease, however, for the past few years I was on a ‘study’ drug’ but, this past month the study group ended due to lack of funding as this disease is extremely rare. When I was diagnosed in 1994, at the age of 27, I was the eighty third person diagnosed in the world with Late Onset Tay-Sachs. Each year more people are diagnosed. I should also mention this is a French Canadian/Jewish borne disease.

Before my diagnoses I worked full – time as a Union Carpenter and led a full and, active life. My hobbies were racquetball, swimming, walking & dancing. I cannot do any of those things anymore. I try and maintain a positive attitude. I volunteer at the local dog park as I enjoy watching the dogs play and, also interacting with the dog owners. I depend on others to drive me if I need to go on a journey longer than an hour away from home.

I had to move in with my mother and, she helps me as much as possible, but, she is unable to carry me up and down the stairway as we live in a two story house. This has been extremely frustrating and, difficult for not only me, but, my mother as well. My mom also, has to care both financially and, medically for my older sister, Gayle. Gayle also was diagnosed with Late Onset Tay – Sachs. The scariest thing for me so far has been the fact that I have had many falls. Lately, I am falling several times a week and, it seems that I am facing the fact that ‘falling’ is just a part of my life. The issue with me ambulating up and, down the stairway has to be dealt with somehow, but, we are unable to move to another home. Financially that would be a hardship as my mom is not able to move at this time.

I am in the process of getting an electric wheelchair for outdoor use only. Since I have noticed the frequency of my inability to get around, i.e., walking, climbing stairs, getting in and, out of my vehicle, going from a sitting position to standing position, I am starting to need assistance more each day. This is a recent exacerbation of this unforgiving disease. Needless to say my frustration with the disease is daily. My plan is to not give into this disease, but, to look at it as a condition that I shall overcome with a positive attitude and, zest for life.
KCBS News Healthwatch Report on Late Onset Tay-Sachs KCBS News Healthwatch Report on Late Onset Tay-Sachs
The Late Onset Tay-Sachs Research and Education Foundation.
Educate and help people affected with this debilitating disease that strikes older children, teens and adults alike.
The world needs to know that Tay-Sachs affects others bedsides infants and very young children.
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