Blog post originally written by the AllStripes community team. AllStripes was acquired by PicnicHealth in 2023.
Taylor is 16 years old and has been on treatment for Fabry disease for half her life. Fabry disease is an X-linked genetic disease, meaning it is caused by pathogenic variants in a gene on the X chromosome. These mutations lead to enzyme deficiency and cause toxic substances building up in the cells and tissues throughout the body. While females were traditionally considered carriers of Fabry disease, they are now referred to as patients. When not managing her disease or attending high school, Taylor can be found shopping, walking, swimming or doing crafts.
I don’t remember much of my childhood but I do remember the pain. I would have really bad heartburn and GI issues. I guess I told my mom that my feet felt like walking on hot coals. But back then, doctors thought women were only carriers of Fabry disease, so they didn’t think anything was going on with my health.
When I was three, my biological uncle, who has Fabry, reached out to his doctors at the University of Iowa to tell them his brother had a daughter who had been adopted (me). The University was able to contact the right people to find me and gave me genetic testing immediately.
When I was eight, I remember getting my kidney biopsy. It was pretty scary… I was so young, and honestly I still am young for all of this to be happening to me. Leading up to the biopsy, my mom kept fighting because I was in so much pain and she had taken me to multiple doctors. When they took a piece of my kidney, they already found damage and said I had to go on treatment ASAP. I’ve had infusions ever since then.
I am just trying to be as honest as possible… Growing up having this disease has been pretty rough. To this day there are still things I can’t do that other kids can do. I used to be able to play sports but not so much anymore. I just get so fatigued.
Friends will ask, hey do you want to go out? I would tell them I’m sorry but I can’t do this. They are curious but they know me pretty well so they don’t try to push me to talk about symptoms. They know I will tell them when I am ready. I wish more people knew that Fabry is not just about being physically ill, there is also an emotional aspect to it.
Even though my mom and sister don’t have Fabry, they try their best to figure out who I am and what they can do to help me be a better person physically and emotionally. My biggest supporter is my mom. She has been advocating for me since I was a baby. She is very honest and open with me, so I feel like I can be the same with her.
Still, I always felt different. To this day, I wish I could have met my whole biological family and been that perfect family, you know? We could have bonded over having this disease. I just met my biological half-sister who has Fabry, as well as her three children. I have that connection now, but back then it was pretty hard. I just felt so out of place. Why do I have this disease? Why is my biological family not with me?
Earlier this year I attended the Fabry Support Information and Information Group (FSIG) conference with my mom. It was really emotional and eye opening. You are in this for your life, and it can be really stressful at times but knowing that there are other people going through it helps. You have a connection, you have the same disease. I was really happy to be there.
If I could talk to my 8-year-old self, I would tell her that people love her and that she is not alone. Back then, the future used to scare me, but now I am taking it step-by-step. Overall, I wish more people understood the mental aspect of Fabry. People don’t understand what a person with a health condition actually goes through.
My main goal in life is to help people. If there is anything that I can do, if I have the opportunity to help anybody get a better understanding of who they can be or who they are, I’m 100% going to jump on that boat.
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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.
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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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Explore the essential takeaways from Victoria's Webinar, along with some resources that she shared.
