WHAT WE DO
Cystinosis Foundation South Africa is the only organisation in South Africa dedicated to supporting individuals and families affected by cystinosis, fostering a strong community around this rare disease.
We passionately advocate for individuals living with cystinosis—an ultra-rare genetic metabolic disease that causes harmful cystine buildup in organs and tissues, leading to severe complications like kidney dysfunction, eye issues, and Fanconi syndrome—as well as their immediate families (parents and siblings) who share in the emotional, financial, and practical challenges of this journey.
Support
We support families through practical help, emotional encouragement and spiritual care for those seeking hope and strength in their journey. We provide connection.
Educate
We educate families, communities, and healthcare professionals about cystinosis. We participate in conferences ensuring access to up-to-date information and resources.
Awareness
We raise awareness among patients, their families, communities & medical professionals to ensure earlier diagnoses, stronger support systems.
Through Fundraisers & Donations we support…
Children diagnosed with Cystinosis
Affected Families with 1 Cystonic Child
Affected Families with 2 Cystonic Children
Healthy Siblings
OUR COMMUNITY
As of July 2025, our community includes 32 diagnosed children, 27 dedicated families (5 families have 2 children with cystinosis) and 37 healthy siblings across South Africa.
Many from rural or under-resourced areas facing isolation, delayed diagnoses, and limited access to specialized care.
We welcome newly diagnosed patients and their families, often overwhelmed by fear and uncertainty, as well as long-term cystinotics striving for a better quality of life. We also recognize the parents and siblings who quietly shoulder their own burdens.
For all, we provide compassionate support, timely medical advocacy, education, and—most importantly—a community that reminds them they are never alone.
What is Cystinosis?
Cystinosis is a rare, metabolic disease characterised by a build-up of the amino acid called cystine, in organs and tissue, leading to severe organ dysfunction.
In Cystinosis, the transporter for cystine is dysfunctional, causing a build-up of cystine in the cells. This build-up causes cystine crystals to form in many organs of the body. Firstly in the white blood cells, kidneys and the eyes, and later in the muscles, pancreas, thyroid and other parts of the body.
Our Affiliations
Our Affiliations
OUR MISSION
“To provide emotional and informative support to all diagnosed with Cystinosis in South Africa, as well as their families, in order to create a sense of community”
