# How Having a Rare Disease Took a Toll on Leah’s Friendships By Catherine Cooke Oct 30, 2020 • 3 min read _Blog post originally written by the AllStripes community team. AllStripes was acquired by PicnicHealth in 2023._ **Content warning:** This post includes discussion of sexual abuse and trauma. “People say, ‘you look great,’ when I really feel like spaghetti.” Leah’s rare condition is not always obvious to people around her. MG is a chronic autoimmune disease that causes Leah’s antibodies to attack themselves, giving her blurry vision, muscle weakness and stumbling speech. What’s more perplexing, though, is that the symptoms can fade in and out. One day, she wakes up fine, while the next day she can barely get out of bed. The unpredictability, in combination with a lack of outwardly apparent physical symptoms, has hurt many of Leah’s relationships: “I’ve lost a lot of friendships because of it. They don’t understand that when they invite me to a party and I can’t go at the last-minute, that they shouldn’t take it personally. I’m just too tired with getting dressed and getting ready.” While some relationships have been painful to step away from, others have been for the best. Tragically, several years ago, Leah was molested by a family member– an event that precipitated a rift with her family. Although she was bold enough to stand up and voice what happened, her loved ones did not condemn the behavior of her abuser and continued including him in family events. For years, she sat side by side with the very man who had caused her so much pain. When Leah was diagnosed with MG, she realized, “I had to make adjustments to prevent myself from getting tired... One of the things I noticed is that stress in my life caused flare-ups of my symptoms.” Her family, along with the gossiping and emotional turmoil that came with them, was one of the biggest sources of stress for Leah, and she “got to the point where I had to disconnect from them. I was able to breathe, and I was able to come into a positive mindset. Maybe this is what had to happen for me to break away.” Beyond relationships, Leah’s battle with MG has spurred many other life changes: “I haven’t been working since my diagnosis in 2015. I used to do ballet, and I can’t do that anymore because I get tired. I can’t walk or exercise. I can’t cook big meals or bake, which were things I loved to do.” However, Leah keeps a positive outlook. If she wants to bake cupcakes and do gardening work, both of which she enjoys, she’ll take a long break in between or plan to do them on separate days. She is not giving up on the things that bring her joy. Leah has also found a way to use her downtime for good. She has joined AllStripes, a rare disease platform that allows her to be part of multiple studies for her condition without leaving her home. By contributing her de-identified medical data to AllStripes, she can be part of powering rare disease research in a way that fits into her lifestyle. “We need more things like AllStripes,” she shares. “Having AllStripes do all the work by putting all the information for MG together and telling us what clinical trials are out there – what clinical trials are good for YOU – makes it so much easier.” Rare disease patients already go through enough as they navigate a new normal. AllStripes not only makes their medical journey easier but also provides a support system of other rare disease patients, caregivers, and advocates. By joining AllStripes, Leah is now a part of a community that is there to uplift: “No more people taking advantage, no more people putting you down, no more people saying ‘this is in your head.’” Although some relationships have taken a toll, Leah has joined alongside some of the bravest, most resilient people we know: the rare disease zebras! She certainly fits right in. ## 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. ### 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) !