Cystinosis is an ultra-rare metabolic disease characterised by the accumulation of an amino acid, cystine, in organs and tissues, leading to severe organ dysfunction.

The amino acid, cystine, is an amino acid stored in the lysosome of cells. In Cystinosis, the transporter for cystine is dysfunctional, causing a build-up of cystine in the cells which then crystallise. These crystals quickly create toxic levels of cystine in the body, causing cellular dysfunction and even cellular death. Soft tissue and all organs are directly affected by this crystallisation, including the kidneys, eyes, liver, muscles, and central nervous system.

Infantile (Nephropathic) Cystinosis

Appears normal at birth, but by 9-10 Month

The most severe and the most common type of cystinosis. Children with nephropathic cystinosis appear normal at birth, but by 9-10 months of age have symptoms that include:

• Excessive thirst and urination
• Failure to thrive (Under-weight  & under-sized)
• Constipation
• Nausea and Vomiting

• Photophobia (eyes sensitive to light)
• Rickets (due to low levels of phosphate and Vitamin D)
• Episodes of dehydration

Late-onset Cystinosis

Appears before the age of 12

Benign Cystinosis

Appears in adulthood

The Macedonian Education Fund was founded in 2015 by Dane Daniels, the older brother of Danielle Daniels.

This educational fund is established in partnership with the Cystinosis Foundation South Africa and therefore the beneficiaries will be those affected with cystinosis in South Africa.

Why an Education Fund?

To give hope and encouragement to those who diligently persevere with hard work and determination despite the endless difficulties of living with cystinosis. It is to celebrate the achievements of our children who continuously fight cystinosis with fortitude.