When Tobi Friesler was 16 years old, she traveled to Israel on a teen tour. Though she had been diagnosed two years earlier with the disease that later came to be known as Late Onset Tay-Sachs, she was adamant that she climb Masada.
“When the madrich [guide] said to me, ‘Take the tram,’ I said, ‘Taking the tram is not climbing Masada and I want to climb Masada. Give me a chance to try,’” Friesler recalled this week at the Jewish Home and Care Center, where she’s lived for the past six years.
“Since [then], my theme in life has been, ‘If I can climb Masada, I can do anything.’
Obviously now I can’t climb Masada,” said Friesler, who is confined to a wheelchair, “but when I was 16, I climbed Masada.”
Freisler, 36, just returned from the 10th annual Late Onset Tay-Sachs Foundation Conference. Some 20 people affected with the disease and 50 non-affected members attended.
Friesler describes the participants as “one big happy family.” She keeps in touch with many of the foundation members via e-mail, but only sees them once a year at the summer conference.
“To spend a few days with others who have Late Onset Tay-Sachs or are connected to it in some way is special. The conference isn’t outwardly emotional, but for us to be together does well up emotion,” she said.
Friesler is the only person affected by LOTS in Wisconsin. There are an estimated 60-100 people in the country who have the disease, she said.
Most carriers and affected people are Ashkenazi Jews. The disease is also prevalent among French Canadians and has been identified in people of several different ethnic backgrounds.
According to the foundation’s Web site, LOTS is caused by a deficiency of an enzyme called hexosaminidase A, which breaks down a particular lipid, or fatty substance, in the nerve cells of the brain. Without the enzyme, lipids build up and lead to a gradual degeneration of the central nervous system.
“Physical manifestations may include hand tremors, clumsiness, speech impediments, swallowing difficulties, problems with gait and balance and muscle weakness,” according to the site. “Not all physical symptoms are present in every affected person. Psychiatric disorders may also be present in some cases.”
LOTS is genetically similar to the other forms of Tay-Sachs — Infantile and Juvenile — from which people usually die by age 5 and 20, respectively. But LOTS, though progressive, is not thought to be fatal.
For Friesler, the disease has mapped the course of her life.
“When I was 16, my dad took me to the NIH [National Institutes of Heath] in Bethesda, Md., to get tested. I walked out crying. My dad said, ‘Why are you crying. You’re special.’ I told him, ‘I’d rather not be special.’”
And though she had already been diagnosed and was showing symptoms in her gait, she wouldn’t talk about it with her peers at Whitefish Bay High School.
But in the ensuing years, Friesler has come to accept herself and her disease. At her 10-year high school reunion, Freisler sat in her wheelchair with a note taped to her back that read, “See? There was a problem.”
“When people asked, ‘What do you mean?’ I’m like ‘In high school I had this disorder but I didn’t tell anyone because I wasn’t okay about it.’”
Now, Friesler said from her room at the home, “I’m more used to it because I’ve had to put up with it for 36 years.”
Still, having to explain the disease is “very frustrating…. Most people don’t understand it.”
There is no cure for any form of Tay-Sachs but, Friesler said, “A new medication is in the testing stages. It’s not out to the general public yet, but when it is it won’t cure the disease. It will stop it in its tracks.”
Friesler is hard to miss at the Jewish Home and Care Center. Her smile is wide, sweet and engaging. And most of all, she seems whole, unafraid, and open.
Her room is filled with music, photographs and Judaica. Beside her computer is a little jar she received at the conference banquet. It’s filled with chocolate stones; they look like little stones but are actually sweet, rich chocolate.
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