# After 40 Years of Questions, These Siblings Finally Got an Answer By Taylor Kane Jan 15, 2021 • 4 min read _Blog post originally written by the AllStripes community team. AllStripes was acquired by PicnicHealth in 2023._ On average, it takes seven years for a rare disease patient to receive an accurate diagnosis. For Theresa’s children, Jeremy and Alicia, it took nearly four decades. Throughout their childhood and young adult lives, both Jeremy and Alicia experienced a range of strange, but seemingly unrelated symptoms. Theresa initially learned that her oldest, Alicia, might have an issue after visiting her pediatrician to have a hearing screening test in order to enter kindergarten. The pediatrician identified Alicia as having hearing loss and referred her to an audiologist. “That threw us,” Theresa says. “We had no idea. She had good language and good social skills.” When Theresa’s son, Jeremy, took the hearing test a few years later, he failed, too. Both children developed cognitive challenges as a result of their hearing deficit, and Theresa explains it was difficult getting them through elementary school. “They both struggled in school. All the way through school. They were in special education their whole lives.” When Alicia was 12 years old, she started developing cysts on her ankles. Doctors would remove the cysts but could never tell the family why the cysts kept developing. It was around this same age that Jeremy started complaining about leg pain when walking home from school and was diagnosed with severe scoliosis. “He always was a kid that didn’t walk properly. But I could never put my finger on it. He had a strange gait and a really difficult time running,” Theresa explains. When the siblings reached their 20s, their physical problems became even more pronounced. Jeremy’s walking difficulties intensified and Alicia developed a huge cyst, right before her wedding. The cyst, later identified as a mass rather than a simple cyst, was surgically removed. A specialist told Alicia that she had bone loss and joint collapse, but offered no treatment and suggested she return for another examination in about a year. When Alicia returned a year later, her ankle was almost totally disintegrated. Today, Alicia’s right ankle is permanently fused. When Jeremy was in his early 30s, Theresa explains, “everyone had noticed how his speech was getting more difficult to understand, how his walking was getting worse.” Alicia’s speech took a nosedive, too. Her family thought she may have had a stroke. “We noticed she started to sound funny. Over the matter of a week, she was sounding more and more like she was drunk every time she spoke. She was choking on liquids and food,” Theresa recalls. Alicia and Jeremy had repeatedly sought out medical explanations for their physical issues. Over the years, Jeremy received a handful of diagnoses including Scheuermann’s disease, cerebral palsy and spinocerebellar ataxia. It wasn’t until the entire family underwent genome sequencing, almost 40 years after Alicia failed her kindergarten hearing test, that the cause of Alicia and Jeremy’s symptoms was discovered. Theresa’s children were diagnosed with alpha-mannosidosis, a rare lysosomal-storage disorder, and she and her husband were identified as carriers. Considering that their symptoms were so different, Theresa was surprised to learn her children had the same condition: “When we got the report, we were flabbergasted.” “All of their symptomatology was looked at in isolation,” she explains. “We were thrilled that we finally, finally had a diagnosis that explained what was going on with our kids. To me, that is a journey. Sometimes it wasn’t just a journey, it was horrific. There were lots of struggles. But we’re relieved that we can say ‘this is what they have’,” Theresa says. Theresa said that some people thought she was foolish for doing genetic testing when she did since her children were already in their 40s. Still, she has no regrets and is grateful to have received a diagnosis. “Just knowing means so much.” The family has joined [AllStripes](/content/program/am/index.html) to contribute their de-identified medical records to research for alpha-mannosidosis, to help develop treatments and grow knowledge about the condition. Hopefully, in the future, other patients and families won’t have to go through decades without an answer, or a treatment. The de-identified data from Jeremy and Alicia’s medical records will be analyzed, along with data from other members of their condition community, with the intention to identify patterns and connections. Identifying these patterns and connections is key in advancing research and speeding up the development of treatments. Like most things in their lives, Jeremy and Alicia’s reactions to their diagnoses were very different. Theresa explains that Jeremy insisted he was okay but was worried about his sister. While Alicia wanted to learn more about alpha-mannosidosis, Jeremy did not ask any questions. But they were both happy to be able to contribute to research efforts for alpha-mannosidosis. ## 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.