Information about Cystinosis from the perspective of Gabby’s parents. Gabby is diagnosed with Cystinosis, a rare, genetic metabolic condition that affects every cell in the body. It is estimated that there are currently 2,000 people diagnosed with this disorder worldwide. Cystinosis is progressive and causes continuous and toxic 24/7 cystine accumulation, which can cause irreversible damage to tissues and organs.
Cystinosis is caused by the continuous accumulation of the amino acid cystine in the body’s cells. Cystine can normally be found in every cell of the body, in a compartment called the lysosome. In people who don’t have cystinosis, cystine is naturally transported out of the lysosome and eventually eliminated from the body. In people with cystinosis, the transport system doesn’t work properly, and cystine is unable to exit the lysosome. Its accumulation leads to irreversible cell damage. As toxic cystine accumulation continues, crystals may form within the lysosome. Increased and sustained cystine levels eventually lead to cell destruction.