New guide offers support for young adults living with Fabry disease
Guidebook developed in collaboration with patients provides resources, tips
Written by |
A new guidebook aims to support young adults living with Fabry disease.
The Fabry International Network (FIN) developed the guide in collaboration with a coalition of young adults with Fabry disease from around the world.
“This guidebook was built with young adults, not simply for them,” Anna Meriluoto, FIN vice president, said in a press release sent to Fabry Disease News. “We repeatedly heard that many people felt alone in navigating adulthood with Fabry disease especially around topics like disclosure, relationships, or planning for the future. We wanted to create something that felt honest, supportive, and genuinely useful.”
Fabry disease is caused by mutations in the gene that provides instructions to make an enzyme called alpha-galactosidase A (alpha-Gal A). This enzyme is normally needed to break down certain fatty molecules, but in Fabry disease, the enzyme is dysfunctional or absent, so these fatty molecules build to toxic levels in the body’s cells.
This toxic buildup drives Fabry disease symptoms. In childhood and adolescence, people with Fabry often experience pain, digestive issues, skin rash, eye problems, and abnormally light sweating. As patients age into adulthood and the disease progresses, they are at risk of damage to organs, including the kidneys and heart.
Providing support at ‘an important stage of life’
Navigating the lifelong journey of Fabry disease can be complex, especially during times of great transition. The guidebook is designed to support people with Fabry disease who are navigating the transition from being a child with the disease to managing it as an adult.
“This project reflects something we hear often from young adults in our community: ‘I wish I’d had this earlier,’” Meriluoto said. “We hope this guidebook helps people feel less alone and more supported during an important stage of life.”
The guidebook is free and spans more than 120 pages, covering a range of topics and challenges often encountered by young adults with Fabry. This includes discussions about transitioning from pediatric to adult care and managing treatment routines, and more general tips for dealing with life as a young adult with a rare disease.
The book also offers resources on managing mental health, relationships, family planning, work and study, as well as strategies for when and how patients should disclose their Fabry diagnosis to people in their lives.
“Reading experiences that sounded like mine made a huge difference,” said one contributor. “It felt like someone finally understood the parts of Fabry that don’t get talked about enough.”
Another said, “Growing up with Fabry disease, I often had questions that weren’t answered in medical appointments. As I entered adulthood, I found myself wondering how to talk about Fabry with friends and partners, how to plan for the future, and whether other young people were facing the same challenges. Being able to connect with others who understood made a huge difference. That’s why resources like this guidebook matter, they help young adults feel less alone.”
