Jack Johnson, Co-Founder and Executive Director of Fabry Support and Information Group (FSIG), discusses the organization’s 30 year anniversary.
Fabry disease is a rare lysosomal storage disease characterized by a deficiency in the enzyme alpha-galactosidase (alpha-GAL). Alpha-GAL helps break down a fatty acid called globotriaosylceramide (GL3). Symptoms of Fabry disease may include episodes of pain, especially in the hands and feet, clusters of small angiokeratomas, hypohidrosis, corneal opacity, and hearing loss. Internal organs, such as the kidney, heart or brain, may also be affected, leading to progressive kidney damage, heart attacks, and strokes. Fabry disease is caused by changes in the GLA gene.
2026 marks the 30th anniversary of FSIG, a patient-driven nonprofit organization dedicated to improving the lives of those affected by Fabry disease. FSIG was founded in 1996 by Mr. Johnson and his family to address the unmet needs of patients with Fabry disease in a time of diagnostic uncertainty and limited therapeutic options.
The group works with patients, caregivers, clinicians, researchers, and industry leaders on education, advocacy, and newborn screening initiatives. Their focus is on advancing awareness, research, equitable access to care worldwide, and, importantly, providing a place for patients and families to find community.
Nowadays, in an era of scientific advancement and industry innovation that has led to emerging gene-therapies and next-generation approaches, FSIG works to elevate the patient voice in informing research priorities, clinical trial design, and treatment development. FSIG hosts national conferences, regional meetings, educational webinars and peer-to-peer connections, to build relationships between patients, clinicians, and industry partners.
Through partnership with “Testing for Tots,” the organization’s newborn screening advocacy program, FSIG is expanding awareness of Fabry disease and advancing earlier diagnosis. The group also partners closely with clinicians and researchers to reduce disparities in care, particularly among women and underrecognized patient populations, ensuring that lived patient experience informs ongoing clinical and therapeutic development.
Priorities for the organization going forward include:
- Expanding newborn screening advocacy through Testing for Tots
- Strengthening patient education and peer connection opportunities
- Advancing health equity and closing gaps in diagnosis and treatment
- Encouraging sustained industry investment in innovative therapies
- Supporting collaborative research initiatives that accelerate progress
To learn more about Fabry disease and other rare lysosomal storage disorders, visit https://checkrare.com/diseases/lysosomal-storage-disorders/