Infantile Tay-Sachs is a form of GM2 gangliosidosis, a rare, genetic disorder that destroys nerve cells in the brain and spinal cord. When Kristen’s son, Sam, was ten months old, he stopped hitting milestones and began losing the ability to sit up on his own. Shortly after, an MRI showed Sam had brain damage with a likely genetic cause.
The family was referred to a genetic testing center and met with a neurogeneticist, whose first question for Kristen and her husband was “are you Jewish?” before deciding to test Sam for leukodystrophy, a group of rare genetic disorders that affect the white matter of the brain, and of which GM2 is a member. Kristen and her husband are not Jewish but both have Irish ancestry. She explains that when she went home and researched the types of leukodystrophy, she thought she could rule out Tay-Sachs disease because it is most common among people of Jewish descent, with about 1 out of 27 Ashkenazi Jews being carriers.
Two weeks later, Sam received a diagnosis of infantile Tay-Sachs and Kristen was floored. She explains that once she got connected with National Tay-Sachs & Allied Diseases Association (NTSAD), she learned that about one in 50 Irish Americans are carriers of Tay-Sachs disease. NTSAD explains on its website that some ethnicities have higher carrier rates than others but “anyone can be a carrier of Tay-Sachs.”
Tay-Sachs follows an autosomal recessive inheritance pattern, meaning if both parents are carriers, any children they have has a 25% chance of having the disease. Kristen explains that many people who live in Tennessee have Irish ancestry because many Irish immigrants settled in the Appalachian mountains when they came to the United States.
“We live in a very small community and everybody is somehow distantly related,” Kristen explains. She has tried to encourage people in her community to understand their potential carrier risk but has had difficulty as genetics isn’t a common conversational topic among neighbors.
After receiving Sam’s diagnosis, Kristen had to explain to her family and friends that Sam has a rare disease and is eventually going to pass away. This explanation typically garners a lot of “I’m sorrys” which isn’t Kristen’s favored response because she feels like she has to say “It’s okay” even though it’s not. “It’s okay to not be okay,” Kristen says.
Kristen is an ambassador for AllStripes and has signed up as a caregiver to share Sam’s de-identified medical records to accelerate GM2 research. She knows that any treatment that comes will likely be too late to save Sam, which she calls “a hard pill to swallow.” Despite her anger that rare diseases have been relegated to the sidelines for so long, she will continue to advocate for future generations of children with Tay-Sachs.
She’s also involved in Facebook groups with other Tay-Sachs parents to support one another and advocate for their children. If Kristen could go back to when Sam was first diagnosed, she would tell herself:
“You will make friends that you never expected. You will celebrate with them and you will mourn with them. You will survive.”