Tay-Sachs disease patient wants people with rare diseases to be treated like everyone else

PostedJanuary 6, 2021 · 2 minute read

When Andrea was diagnosed with late-onset Tay-Sachs disease at 33, she didn’t know what to expect. Today, life looks different, but she still enjoys the hobbies she loves the most.

By Taylor Kane

Andrea

Walking up the stairs has become increasingly difficult for Andrea, a late-onset Tay-Sachs disease patient. Tay-Sachs disease is a type of GM2-gangliosidosis, a subgroup of lysosomal storage disorders that progressively destroy nerve cells in the brain and spinal cord. Due to her decreased mobility, Andrea recently made the decision to move into a ranch-style house in Florida.

While she loves to spend her free time reading by the pool, Andrea admits that comprehending books has become more challenging. She finds that she has to spend a lot of time concentrating to fully understand the storylines.

These aren’t the only lifestyle changes Andrea has experienced since she was diagnosed. She has also had her driver’s license taken away because she is unable to focus at the wheel, and her social life has suffered as her speech problems have worsened.

“My voice is hard to understand. I’m not sure if it drove people away,” Andrea wonders.

Late-onset Tay-Sachs disease occurs less frequently than the more well-known phenotypes of the condition, infantile Tay-Sachs and juvenile Tay-Sachs. When Andrea received her diagnosis, she had never heard of late-onset Tay-Sachs. “There is not a lot of information,” she explains. “Most research is focused on juveniles.”

Thankfully, she was able to meet other late-onset patients through the National Tay-Sachs & Allied Diseases Association (NTSAD) patient organization, attending in-person conferences and more recently, Zoom events. Andrea admits that at first, she was scared to go to conferences because she didn’t want to face how her symptoms might progress.

Today, however, her outlook and approach to the future are somewhat different. “Take it one day at a time,” she advises.

When reflecting on her diagnosis, Andrea notes that her mother was the one who pushed her to get a genetic test. When Andrea was in her early-thirties and becoming increasingly clumsy, Andrea’s mother became worried, but Andrea didn’t think she had a medical issue. After she began to experience difficulties with her speech, however, Andrea decided to pursue genetic testing.

Even though the disease has caused her legs to get weaker, Andrea loves to stay active and go to the gym. She also recently learned to do needlepoint to help her improve her motor functioning.

Andrea decided to become a patient ambassador for AllStripes so she could meet more late-onset Tay-Sachs patients and stay updated on current research that could help her and others like her in the future.

“Patients should know they are not alone and to be an advocate, raise money, and show we are a community that needs and wants help,” she says.

At the end of the day, Andrea wants rare disease patients to be treated like everyone else. She wishes people understood that rare diseases are not anyone’s fault!

If you are a patient, or family member of a patient, with GM2 and are interested in contributing medical history to advance research learn more at allstripes.com/gm2.


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