Welcome to Cystinosis Foundation South Africa
Your child has been diagnosed with cystinosis and you may experience a range of emotions; from feelings of fear, denial and confusion to being totally overwhelmed. We understand and are here to support you on this journey. It is important to know that you are not alone
What is Cystinosis?
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)
- Nausea and Vomiting
- Photophobia (eyes sensitive to light)
- Rickets (due to low levels of phosphate and Vitamin D)
- Episodes of dehydration
Appears before the age of 12
Appears in adulthood
The Macedonian Education Fund
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.
We are familiar with the African proverb: “It takes a village to raise a child…” or closer home; the South African philosophy of “Ubuntu” (humanity towards others) . . . . For us in the Cystinosis community that idea plays out and is reflected in the people who faithfully support and partner with us in this outreach —OUR FRIENDS.
The Friends of the Foundation was officially launched in 2017.
What do they do?
- Pray for our families
- Support fundraisers
- Assist with Annual Family Gathering