Rare Genetic Disorder That Turns Organs into Crystals

A distressed couple in Leeds has revealed that both of their children are suffering from a rare genetic disorder that slowly turns their organs into crystals. Jessica Kemp revealed that her daughters, Emily, 3, and Poppy-Mae, 2, have been diagnosed with cystinosis, a rare genetic disorder that affects just one in 3.5 million.

Cystinosis is an incurable condition with just 2,000 patients in the world and as it is a genetic disease, there is a one in four chance that Ms Kemp’s children may suffer from the disease.

Ms Kemp said that when Emily was diagnosed with the disease, she was pregnant with Poppy-Mae and knew that she too would be suffering from the condition. “I already knew in my heart that she had it. I was devastated when the doctors confirmed our worst fears - both our little girls had cystinosis”, she said.



Source-Medindia