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

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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)
  • 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

Usually diagnosed before the age of 12 years and the disease progresses slowly. Cystine crystals are present in the cornea and conjunctiva of the eye and in the bone marrow.

Benign Cystinosis

Appears in adulthood

Begins in adulthood and does not affect the kidneys in any way. Cystine accumulate in the cornea and conjunctiva of the eye and photophobia is present

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.

Our Friends

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

The International Community

There are 2000 diagnosed cases of cystinosis worldwide. We are extremely grateful to the Cystinosis Foundation U.S.A for the initiative of hosting an International Conference every alternate year. It is an invaluable experience. We are privileged to learn more about Cystinosis from doctors who specialize in this field, from across the world, and for the opportunity the conference lends to build relationships with families globally.

Our Partnership

Derrick Hoshe, a Marathon runner, has dedicated the past two years to raise funds by running for the CFSA. In 2017 he ran the Two Oceans half marathon, 21km and ran the Ultra-marathon  (56 km) in 2018. His efforts and dedication has brought about much needed awareness.  Over the last year he has also gathered more runners to join him in this endeavour. Together they raised a substantial amount of money towards the CFSA, as well as raising awareness of the existence of this ultra rare diseas
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