# This Mom Is Fighting for Answers After Losing Two of Her Children to a Rare Disease By Catherine Cooke Sep 04, 2020 • 3 min read _Blog post originally written by the AllStripes community team. AllStripes was acquired by PicnicHealth in 2023._ "He just wanted to be with his brother,” Deborah reflects after losing her second son to a rare disease, just 4.5 months after losing her first. Less than three years apart in age, Luke, Deborah’s oldest son, and Isaiah, her youngest, were incredibly close, but a rare disease called GM1 gangliosidosis unfairly took their lives at just 10 and 8 years old. GM1 is a genetic disorder that progressively destroys nerve cells in the brain and spinal cord. In Deborah’s words, it causes affected children “to go backwards and lose their [motor] skills, until eventually they can’t function anymore.” It’s a cruel disease that caused Luke and Isaiah to become “trapped in their own bodies. Their minds were all there. They could understand you, but they couldn’t reciprocate what was going on. You could tell the frustrations they had.” While they couldn’t express all that they wanted throughout the course of their disease, they never lost the ability to laugh. Like many boys their age, they chuckled when people tripped and fell, and Luke, in particular, got a good giggle from the lyrics of Johnny Cash’s “A Boy Named Sue.” When Luke was a baby, he was developing quickly and began talking early. However, at 18 months, “out of nowhere, the talking just stopped.” He started regressing and got more clumsy. Most doctors said that it was rather standard developmental delays that would pass in time. But a mom knows best: “I was frustrated. I was angry. I knew something was wrong,” Deborah remembers. After 4.5 years of looking for answers, Deborah got the phone call the week after his 6th birthday: he had GM1. She immediately got her other two children tested and received more devastating news. Their middle child was a carrier, and their youngest also had the disease. Deborah’s life completely flipped in that moment and then flipped entirely again just a few years later when Luke and Isaiah passed. “With any death it’s a struggle, but [for rare disease parents and caregivers] you go from going full speed every single moment of your day to nothing. It’s like having an identity crisis.” For those who have dedicated so much of their life to managing a rare disease, the time back for yourself can be overwhelming. “What do I do now with this extra time I have?,” Deborah still asks herself. “You almost feel like you’re wasting time and being lazy. You feel absolutely guilty.” One of the things Deborah has done with her newfound time is making sure Luke and Isaiah’s “journey wasn’t meant to just be over and that’s it and that’s as far as it goes. Something burns in you to see change.” Deborah has signed up with AllStripes, a platform that allows rare disease patients and families to digitally store their medical records and share the de-identified information with researchers in search of treatments and cures for their rare disease. “I feel like if my sons’ lives can help somebody else, I want it to. If their struggle and journey can help push toward a cure or clinical trial or anything, that’s what they would’ve done.” ## 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. ## 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) ## Learn more about contributing to IgAN research with PicnicHealth. ## 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. ## Learn more about contributing to IgAN research with PicnicHealth.