Thirteen-year-old Reza lives in Iran with his family, and he is also living with a rare disease called Cystinosis.
Within the past century, Cystinosis has gone from being a cause of childhood fatality to a manageable condition with a life expectancy well into middle age. It is caused by mutations in the CTNS gene, passed on in 1 in 4 pregnancies where both parents are carriers, and affects between 1 in 100,000 and 1 in 200,000 people.
It is characterized by the accumulation of the amino acid cystine in different tissues and organs, with the kidneys and eyes most likely to be affected. Exact symptoms and severity can vary greatly between patients.
Reza’s kidneys have been badly affected, and his treatment has included receiving a kidney transplant. This has affected his ability to socialize with his friends, as has the COVID-19 pandemic, and he isn’t always able to participate in his educational and creative classes.
But he is an optimistic person who focuses on the positives. Reza says:
“My parents, friends and family members have my back. I appreciate the Rare Diseases Foundation of Iran (RADOIR), the Iranian Cystinosis community, my doctors, especially the ones who did my kidney transplant, and all the people who have helped me. Each year I join Cystinosis Symposium which helps me meet other people living with a rare disease and I make lots of new friends there. We talk to each other and share our stories.
I love going to the cinema, watching movies and reading books. I am also very fond of singing and dancing and really enjoy happy music. I really want to become an actor! I like taking part in acting classes, I think I am ready to star in a movie. I will try my best to be a successful person in the future and make those around me happy.”