When Your Sister Has Cystinosis, What Can You Do? Donate a Kidney!

When Cheryl Simoens was born, she became one of a small number of babies born each year with cystinosis, a chronic and genetic kidney disease.

Cystinosis is characterized by an accumulation of cystine, an amino acid that is a building block of proteins within cells. A buildup of cystine can cause kidney failure, and if untreated, most children with the disease rarely live past the age of 10.

Cheryl was lucky, though. She was diagnosed at 15 months after many trips to the hospital where she was treated for dehydration, and “failure to thrive.” She was treated with medications in an effort to stabilize her health.

Life got better for Cheryl when she was 11 and her father became a living kidney donor. It was a life-changing event, and enabled her to discontinue her grueling dialysis treatments.

Her older brother, Michael, described how her personality blossomed after the transplant. He said,

“We didn’t realize how suppressed her personality was because she was so sick for so long.”

Now 32, Cheryl has been active, competing in rock climbing events and preparing to participate in a half iron-man–until August 2015 when her kidneys, once again, began to fail and she had to go back on dialysis.

When Michael realized his sister was in need of a kidney, he stepped up to the plate and got tested to see if he was a donor match–and against all odds, he was a PERFECT match, which is very rare among siblings. Now, post-surgery, they are hoping that Cheryl will have a chance at normalizing her life.

For more information about cystinosis, contact the Cystinosis Research Foundation.

Source: https://globalgenes.org 

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.

Share this post

Share on facebook
Share on twitter
Share on linkedin
Share on pinterest
Share on print
Share on email