Research for a Cystinosis CURE is Gaining Traction Thanks to the CRF

It was a match made in heaven when the Homecoming King fell in love with the Homecoming Queen. Several years after they accepted their crowns, they got married and planned their future together. What neither of them knew was both carried a defective gene that causes a disease called cystinosis.

A few years later, their first little princess arrived and the first six months were blissful. The Land of Proud Grandparents rejoiced and the spoiling began in earnest. But then, the fairy tale came to an abrupt end when the princess began to exhibit strange symptoms. Excessive thirst was one, and her eyes seemed to be bothering her all the time. Her tiny fist would rub them constantly. At one year of age, she still wasn’t walking.

After several misdiagnoses, it was determined that the princess had inherited a copy of a defective gene from both of her parents, and as a result, she had cystinosis. The doctor explained to the King and the Queen that cystinosis is characterized by the accumulation of an amino acid called cysteine within the cells. There were three types: nephropathic cystinosis, intermediate cyctinosis, and non-nephropathic (or ocular) cystinosis. The princess had the last one.

In the past, children born with this genetic disease died from kidney failure by age 10. Fortunately, thanks to the Cystinosis Research Foundation, the future is looking almost as bright as the Friday night lights on Homecoming night. CRF has been funding research and inroads are being made into finding a cure through stem cell transplant therapy.

If you would like to see cystinosis through the eyes of patients, doctors, and researchers, take a moment to watch the video linked below.


Erica Zahn

Erica Zahn

Erica Zahn is passionate about raising awareness of rare diseases and disorders and helping people connect with the resources that may ease their journey. Erica has been a caregiver, and is a patient, herself, so she completely relates to the rare disease community--on a deeply personal level.

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