The Cystinosis Foundation South Africa was born from one family’s long, difficult journey to find answers. For 12 years Gail and Colin Daniels searched tirelessly for a diagnosis for their daughter, Danielle, who had been ill since infancy.

After years of hospital visits, misdiagnoses, and mounting frustration, in 2005, Danielle was eventually diagnosed with cystinosis — a rare, inherited metabolic disorder that causes a build-up of cystine in the body’s cells, leading to organ damage, growth delays, and vision problems.

In South Africa, where rare diseases are often underdiagnosed and poorly understood, the Daniels family faced many barriers:

• a lack of awareness among doctors
• difficulty accessing treatment
• and a complex medical system with little support for families managing chronic, rare conditions

Determined not to let others walk this road alone, Gail and Colin established the South African Cystinosis Support Group in 2010, which later became the Cystinosis Foundation South Africa — a registered Non-Profit Company (NPC 2024/364428/08) and recognised Section 18A Public Benefit Organisation.

The Foundation supports local families, especially those without access to private healthcare, by sharing information, providing treatment support, advocating for awareness, and linking patients to global resources like the international cystinosis registry. From supplying cooler bags for vital medication to producing simplified educational materials, the Foundation exists to fill the gaps they once experienced.

Rooted in lived experience and compassion, the Cystinosis Foundation South Africa is committed to raising awareness, improving care, and working toward a future where every child with cystinosis receives an early diagnosis and access to life-changing treatment — and one day, a cure.