Imagine the shock of learning that you have a fatal rare disease, only to find out later that you were misdiagnosed and actually have a non-fatal but much more rare and less-researched condition. That’s exactly what happened to John, a patient ambassador for AllStripes’ GM2 program.
Misdiagnosis is not uncommon for rare disease patients. When he was 45 years old, John’s doctor noticed that his legs were twitching during a routine physical. Soon after, he received a diagnosis of amyotrophic lateral sclerosis, more commonly referred to as ALS.
You may have heard of ALS from the ice bucket challenge that went viral on social media in 2014. However, you may not have heard of GM2 disorders, or more specifically the variant late-onset Tay-Sachs disease. Neither had John, when he was informed he had this very rare form of Tay-Sachs disease, instead of ALS.
Upon learning that late-onset Tay-Sachs is not usually fatal, John felt relieved. Still, he had to accept that the road ahead would not be easy, and that his symptoms, including clumsiness and walking difficulties, would continue to progress.
“It was scary, but it was a relief.” John first began experiencing symptoms when he was in his 20s, and by his mid-30s, he started to have difficulty walking up and down the stairs. It took him another decade to receive a proper diagnosis, and once he did, he spent the next year in a deep depression.
During this year, he experienced several injuries (unrelated to his condition) and was unable to work full-time. “I was a full-time dad,” John explains. For most of his life, John had worked in his family’s flower shop. A few years before his son was born, he got his builder’s license. While he loved being able to spend more time with his son, John was plagued by the thought that he was no longer financially able to support his family.
Despite the fact that his ability to walk has continued to decline, John renewed his builder’s license this past May. Since then, he has replaced the door and windows in his basement, and is currently remodeling his kitchen. He has also modified his house to make it easier for him to get around, as he suspects he will soon need to use a walker.
John reveals that he’s not planning on giving up building anytime soon. “I will get by. I will get through it somehow.”
The work-disability balance has not been an easy one to manage, John explains. In addition to building, he works customer service at a movie theater, but has been out of work since the start of the COVID-19 pandemic. He worries that he may lose his job permanently.
“I’m 56 years old and disabled, how would I find another job?” John says he tries not to let the negative thoughts get to him. He reminds himself, “I have a lot of talent. I will find something to do.” He is determined to work as long as he is physically able.
John has also begun to prepare for a time when he is not able to do the routine, day-to-day activities he does now. In February he got a service dog and he uses an electric scooter at the grocery store to help him get around. “It’s getting more obvious I am having an issue,” he explains.
Still, John says he faces judgment for having a disability that is not entirely visible. He admits that he gets strange looks when he parks in a disabled parking spot and walks into a store. He wishes more people understood that not all disabilities are visible.
“I would gladly trade my disability plate for a cure.” He also believes that able-bodied people should appreciate the little things they can do, like walking up the stairs. “I watch people go up and down the stairs and wish I could do that,” John admits. “A lot of people don’t think about it. Until you are in that position, there are things you don’t think about.”
When John first researched late-onset Tay-Sachs disease, he turned off his computer in tears. Today, his shock and anguish has been replaced by determination and hope — he has participated in numerous research studies, including a natural history study, and is waiting to be contacted about a new clinical trial. He joined AllStripes to help get information about his condition out there. “Any study, I want to get involved,” John asserts.
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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.
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.
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.
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.
Learn more about PicnicHealth’s commitment to the Alzheimer’s community and the Alzheimer’s Association
Learn MoreWhen 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.
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.
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.
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.
Easily manage all of your loved one's medical records and contribute to ongoing Alzheimer's research with PicnicHealth.
Learn More(from 13 patients with LC-FAOD)
38% Female
15 providers / patient
7.5 years of data / patient
(from 13 patients with LC-FAOD)
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