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When Al was in his 30s, he started having trouble bending his legs and walking up and down the stairs. The first neurologist he saw told him he had a cyst on his cerebellum, and that he may have multiple sclerosis or Parkinson’s disease. After another neurologist told Al he did not suspect these diagnoses, Al underwent genetic testing.
“My parents and I went in right before Thanksgiving to give 20 vials of blood,” Al explains. A week before Christmas, Al was diagnosed with Late-onset Tay-Sachs disease, a type of GM2 gangliosidosis.
“Our jaws hit the floor,” he says.
Al’s first step after his diagnosis was to learn more about his disease and in the process got connected with Eric, a man of a similar age with late-onset Tay-Sachs who lived close by. Al was grateful to meet another person with the same condition. Soon after meeting, they co-hosted a Shabbat celebration to teach Eric’s friends about late-onset Tay-Sachs — a rare condition that most people have never heard of before.
In 2019, Al attended his first National Tay-Sachs & Allied Diseases Association conference. He admits that while he mostly enjoyed it, he spent a lot of time alone in his hotel room crying. Out of the 30 or so people with late-onset Tay-Sachs at the conference, Al says only a few of them did not use a mobility aid. Al was forced to face what his future with his condition could look like.
Thankfully, Al is doing well and says his physical and mental health have both improved. To date, he has participated in multiple research studies, including one at the University of Minnesota. A self-described “die-hard Prince fan,” Al was able to make the most of his trip and visit Prince’s home and studio in Minneapolis. He plans to continue to be involved in research whenever possible, and joined AllStripes as one way to do that without leaving home. Al wants to do what he can to help raise awareness of rare diseases and calls AllStripes a “very worthwhile” program to be involved in.
When not participating in research, Al is working to become a marriage and family therapist. He has a master’s degree in psychology with a specialization in marriage and family therapy. In the wake of his rare disease diagnosis, Al wasn’t able to complete the required training hours to become a certified therapist and was denied accommodation. Tenacious at heart, Al wasn’t giving up that easy. He restarted the training and has about 800 hours left. “My dream position is working with other adults and children who have received medical diagnoses that are difficult to deal with,” he says.
If he could go back and tell himself something on the day he received his diagnosis, he would reference a line from his favorite band, Phish: “The trick is to surrender to the flow.”
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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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