Elaine Friesler remembers her daughter Tobi not only for how she persevered through the challenges of her disease, but also that she lit up rooms and made people around her feel at ease.
“What carried her through life is her laugh. She would make people feel comfortable because she laughed,” Elaine said.
Tobi died in 2011 from late-onset Tay-Sachs disease while living at the Jewish Home and Care Center in Milwaukee. She was 43.
Today, Elaine Friesler wants to share her daughter’s story as a reminder that pre-pregnancy testing for Tay-Sachs is available and may be critical for potential carriers looking to have children.
Tay-Sachs is a rare, genetic condition that destroys the nerve cells in the brain and spinal cord. The condition is more common among those of Ashkenazi Jewish backgrounds, as well as people of Cajun and French-Canadian descent.
When Whitefish Bay native Tobi Friesler was just 6 years old, Elaine started noticing inconsistencies in her daughter’s hand-eye coordination. At the time, there wasn’t enough medical knowledge to conclude that Tobi had Tay-Sachs. When Elaine took Tobi to a pediatrician, they told her that Tobi was “just kind of klutzy.”
By the time Tobi was in high school, she had to use a cane to keep from falling. Elaine took her to a neurologist, where it was brought to her and her former husband’s attention that they may both be carriers of Tay-Sachs. Soon after, Tobi was diagnosed with late-onset Tay-Sachs disease.
“She didn’t let this disease define her,” Elaine said.
Tobi was determined to make her own way in the world and studied at University of Wisconsin-Madison, majoring in Hebrew studies and speaking the language fluently. She loved her Jewish identity and had many friends in the community.
She even visited Israel and climbed Masada, an ancient stone fortress prominent in Jewish history. According to a 2004 Chronicle article, when a tour guide in Israel told her to take the tram instead of climbing, Tobi said, “Taking the tram is not climbing Masada, and I want to climb Masada. Give me a chance to try.”
Now, 13 years after Tobi’s death, Elaine wants to make sure that others know Tay-Sachs testing is available for those looking to have children.
Getting screened for Tay-Sachs disease can give couples important information about their future children before starting a family, especially for Ashkenazi Jews.
According to studies, approximately one in 27 Jews in the U.S. are carriers for Tay-Sachs. Couples where both partners are carriers have a 25 percent chance of having a child with Tay-Sachs.
“With easy access to simple blood tests for everyone, screening is an effective and accessible tool in the fight against this devastating disease,” said Kathleen Flynn, chief executive officer of the National Tay-Sachs & Allied Diseases Association.
Knowing what diseases couples may carry can be helpful, whether or not they choose to go forward with natural pregnancy, according to JScreen Education and Outreach manager Shari Ungerleider. JScreen is a national public health initiative that provides genetic testing and counseling for over 200 diseases.
“Even if a couple would choose to have a child with a genetic disease, it’s just so that they know and are prepared to have a child with special needs,” said Ungerleider. “Then that child won’t have to go through this diagnostic odyssey of trying to figure out what’s wrong.”
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Whitefish Bay resident Elaine Friesler wants to share her daughter’s story as a reminder that pre-pregnancy testing for Tay-Sachs is available and may be critical for potential carriers looking to have children.
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