Rare Patients, Rare Miracles: Siblings With Cystinosis Get Transplanted Kidneys from the Same Donor

According to a story from KUT News, Ava Shepperd and John Ben Shepperd, aged 14 and 18 respectively, always knew that they would eventually need to get kidney transplants. This is because they were both born with cystinosis,  a rare disorder that eventually causes the kidneys to fail. Their kidneys had already started to shut down; John Ben was using dialysis for two years and Ava started dialysis in January. Then they received a call that they had been hoping for: there was a donor match for both of them.

About Cystinosis

Cystinosis is a type of lysosomal storage disease which is characterized by the abnormal accumulation of the amino acid cystine in the body. The disease is caused by mutations affecting the CTNS gene. This disease leads to the formation of cystine crystals in different areas of the body, particularly the cornea. Severe cystinosis can cause major symptoms early in life, such as kidney failure, growth and developmental impairments, diabetes, muscle atrophy, reduced skin and hair pigment, blindness, impaired sweating, and inability to swallow. Treatment of cystinosis include cysteamine, which can impair the growth of crystals in the body; sodium citrate is also to control blood acidity. If kidney failure occurs, dialysis and ultimately a kidney transplant are necessary for survival. To learn more about cystinosis, click here.

Kidneys From a Single Donor

The siblings were shocked when they were told that there was a kidney for each of them, but as it turned out, the kidneys that they would be using were to come from the same individual donor. While young patients to get priority on transplant wait lists, to have a donor match for both Ava and John Ben was a rare exception indeed.

The mother of the children, Kim Azar-Shepperd, said that they family would make jokes about the kids getting kidneys from the same donor, but they never imagined that it would actually happen. It really felt too good to be true. While the family doesn’t know much about the donor, they did hear that it was a younger person.

The two children have undergone the transplant operation and are recovering well. John Ben will attend college in the fall and Ava is entering the eight grade.

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