What It’s Like to Live With a ‘Children’s Disease’ at 38

By

Cat Cooke

Aug 09, 2021 • 2 min read

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

“I don’t want to be known as a person with Tay-Sachs,” Barry says. “I want to be known as a normal person. This is just a hurdle.”

At 38, Barry has defied the odds and stumped many doctors. Diagnosed in his 20s, he’s living with a rare disease called GM2 gangliosidosis, or Tay-Sachs.

A subgroup of lysosomal storage disorders, GM2 gangliosidoses consist of three closely related genetic conditions. The most common form presents in infancy and often causes death by age five. In individuals with the juvenile-onset form, symptoms usually begin when children are between two and ten years old, while individuals with the adult-onset form — like Barry — may begin showing symptoms in their 20s or 30s. Management of the disease is based on symptoms and is often supportive. Currently, there are no approved treatments for GM2.

Barry is acutely aware of the dangerous progression of his disease, but with little known about late-onset GM2, he has no way of predicting what exactly that will look like. Regardless, Barry refuses to live a life defined by his rare disease.

The happy couple. Photo by South Street Photography.

A gregarious jokester, Barry will have you laughing at his frequent quips. But when he was a college student, he was forced to get serious when a major issue arose: he was falling down frequently. At first, Barry blamed it on late-night revelry, but he always suspected, deep down, that something more was at hand. After falling down stairs and in the parking lot of a sporting event, he decided to see a doctor.

That first appointment marked the beginning of a two-and-a-half-year-long battle with insurance to get the tests he needed. When neurology and blood work revealed nothing, doctors fought to get him approved for genetic testing. At last, the testing revealed his GM2 diagnosis.

Only a few months later, he met the love of his life: his now-wife Sarah. “I had a million questions,” she admits. “He answered as many questions as he could, but he didn’t know too much himself.”

That’s why Barry has joined AllStripes, a platform for rare disease patients to centrally store their de-identified medical history and share it with researchers looking into their specific disease. He has contributed his records because “there’s no treatment at all for us. Most research is being done on babies.” While Barry says there are “lots of things” he can’t do anymore, he is actively changing lives for a future generation by contributing to research.

By sharing his information alongside other late-onset GM2 patients, he can now be part of studies for adults without leaving home and receive exclusive research updates — all at no cost.

We know that every person's story is unique and deserves to be heard.

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.

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.