What Kristen Learned After Her Son Sam Was Diagnosed With GM2

What Kristen Learned After Her Son Sam Was Diagnosed With GM2

By

Taylor Kane

Apr 22, 2021 • 3 min read

Blog post originally written by the AllStripes community team. AllStripes was acquired by PicnicHealth in 2023.

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.”

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Create a List

List the names of all the doctors, hospitals, and other facilities your loved one visits regularly, along with those they have visited in the past. Try to go back as far as you can, striving for at least the last 5-10 years, but do your best. Even if you can’t remember them all, having a strong baseline can help you quickly identify gaps in records.

Ensure You Have the Appropriate Legal Status

It is important to make sure that you are fully empowered to make decisions on behalf of your loved one with Alzheimer’s. Your relationship status with the patient may not be enough to legally give you access to your loved one's medical information. It is a good idea to talk to an expert about securing special legal status, such as Power of Attorney (POA), a legal document that allows an individual to name someone as their decision maker should they no longer be able to make decisions on their own.

Gather and Organize the Medical Records in One Place

It’s important to have all of your loved one’s medical records together in one spot. This makes it much easier for you and your loved one’s physicians to accurately map the patient’s medical journey and more easily share information between doctors. Fortunately, tools exist to make record management and access simple. A free resource like PicnicHealth helps you collect and organize all of this information. PicnicHealth’s intuitive timeline allows you to pinpoint data across the medical history, eliminating your need for keeping heavy binders filled with paper records or keeping track of multiple software portal logins.

Review the Medical Records to be an Informed Advocate

The better you understand your loved one's medical history, the better you can advocate on their behalf. Access and understanding of this information will help you to ask informed questions with physicians. Through regular communication backed by the data in the medical records, you can help your loved one’s care team develop a more successful care plan.

Having trouble managing your loved one's medical records?

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LC-FAOD Odyssey: A Preliminary Analysis, presented at INFORM 2021

Data from real-world medical records:

(from 13 patients with LC-FAOD)

Data from patient-reported outcome (PRO) survey

(from 13 patients with LC-FAOD)

1. Build a support network.

When you’re juggling appointment times and insurance claims, putting a robust support system together might not strike you as the most urgent task. Investing the time to cultivate relationships with people can turn to in times of need will pay dividends. The next time you need a last-minute ride or just someone to listen, you won’t be on your own.

There are many condition-specific support groups and support groups for caregivers generally in person or online. In addition to the encouragement and empathy they provide, support groups can be a helpful source of tips, resources, and recommendations for navigating caregiving.

2. Stay organized.

The backbone of effective caregiving is organization. Keep medical information, appointment schedules, and medication lists in order. Use a planner or a digital service like PicnicHealth to stay on top of your responsibilities. This attention to detail can prevent future complications and reduce day-to-day stress.

3. Explore treatments and clinical trials.

We’ve seen incredible breakthroughs in treatment over the past couple of years, powered by patients and their caregivers participating in research. Stay in the loop about the latest in medical advancements and available resources that could benefit your loved one. Whether it’s a new therapy option or a community service that aids independence, being informed can make a world of difference in the quality of care you provide.

4. Make time for self-care.

It may seem self-centered to focus on self-care—but when you feel good, you can be a better caregiver. Whether it’s exercise, a mindfulness practice, a soak in the bath, or just time to rest when you need it, carve out those moments in the day when you can unwind, reset, and stay healthy mentally and physically. Think of it as building up your reserves of kindness, patience, and understanding—which can only benefit your loved one. No one can pour from an empty cup.

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