# Andrea Wants People With Rare Disease to Be Treated Like Everyone Else By Taylor Kane Jan 06, 2021 • 2 min read _Blog post originally written by the AllStripes community team. AllStripes was acquired by PicnicHealth in 2023._ Walking up the stairs has become increasingly difficult for Andrea, who lives with late-onset Tay-Sachs disease. Tay-Sachs disease is a type of GM2-gangliosidosis, a subgroup of lysosomal storage disorders that progressively destroy nerve cells in the brain and spinal cord. Due to her decreased mobility, Andrea recently made the decision to move into a ranch-style house in Florida. While she loves to spend her free time reading by the pool, Andrea admits that comprehending books has become more challenging. She finds that she has to spend a lot of time concentrating to fully understand the storylines. These aren’t the only lifestyle changes Andrea has experienced since she was diagnosed. She has also had her driver’s license taken away because she is unable to focus at the wheel, and her social life has suffered as her speech problems have worsened. “My voice is hard to understand. I’m not sure if it drove people away,” Andrea wonders. Late-onset Tay-Sachs disease occurs less frequently than the more well-known phenotypes of the condition, infantile Tay-Sachs and juvenile Tay-Sachs. When Andrea received her diagnosis, she had never heard of late-onset Tay-Sachs. “There is not a lot of information,” she explains. “Most research is focused on juveniles.” Thankfully, she was able to meet other late-onset patients through the National Tay-Sachs & Allied Diseases Association (NTSAD) patient organization, attending in-person conferences and more recently, Zoom events. Andrea admits that at first, she was scared to go to conferences because she didn’t want to face how her symptoms might progress. Today, however, her outlook and approach to the future are somewhat different. “Take it one day at a time,” she advises. When reflecting on her diagnosis, Andrea notes that her mother was the one who pushed her to get a genetic test. When Andrea was in her early-thirties and becoming increasingly clumsy, Andrea’s mother became worried, but Andrea didn’t think she had a medical issue. After she began to experience difficulties with her speech, however, Andrea decided to pursue genetic testing. Even though the disease has caused her legs to get weaker, Andrea loves to stay active and go to the gym. She also recently learned to do needlepoint to help her improve her motor functioning. Andrea decided to become a patient ambassador for [AllStripes](/content/program/gm2/index.html) so she could meet more late-onset Tay-Sachs patients and stay updated on current research that could help her and others like her in the future. “Patients should know they are not alone and to be an advocate, raise money, and show we are a community that needs and wants help,” she says. At the end of the day, Andrea wants rare disease patients to be treated like everyone else. She wishes people understood that rare diseases are not anyone’s fault! ## We know that every person's story is unique and deserves to be heard. ### Create a List 1. 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. ### Learn more about PicnicHealth’s commitment to the Alzheimer’s community and the Alzheimer’s Association ## Together, we can make a difference. ### 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. ## Having trouble managing your loved one's medical records? Easily manage all of your loved one's medical records and contribute to ongoing Alzheimer's research with PicnicHealth. #### LC-FAOD Odyssey: A Preliminary Analysis, presented at INFORM 2021 ##### Data from real-world medical records: (from 13 patients with LC-FAOD) - 16 yrs old Median age at enrollment 38% Female 15 providers / patient 7.5 years of data / patient ##### Data from patient-reported outcome (PRO) survey (from 13 patients with LC-FAOD) **Tip:** Download or print the poster at the end of this article to review before your next appointment! However, it's important to consult with a healthcare provider or registered dietitian to determine the appropriate amount of protein for your individual needs. In general, a diet with moderate protein intake (about 0.8 grams per kilogram of body weight per day) is recommended for people with kidney diseases.