Siblings with rare genetic disorder receive new kidneys on same day from same donor

A pair of Texas siblings born with a rare genetic disease got the call they needed recently when they found out a deceased donor could provide them both with life-changing kidneys. Ava Shepperd, 14, and her 18-year-old brother John Ben, were diagnosed with cystinosis and were on the University Transplant Center waiting list, The San Antonio Express-News reported.

May 6, 2019: Ava Shepperd, 14, left, and her brother John Ben Shepperd, second from right, sit with their parents Kim Azar Shepperd, and John Shepperd, right, at University Transplant Center, in San Antonio, Texas. 

May 6, 2019: Ava Shepperd, 14, left, and her brother John Ben Shepperd, second from right, sit with their parents Kim Azar Shepperd, and John Shepperd, right, at University Transplant Center, in San Antonio, Texas.  (AP)

The genetic disease causes buildup of the cysteine amino acid in various organs and tissues in the body leading to damage, according to Cystinosis Research Network. Over time the buildup can lead to kidney failure, muscle wasting, difficult swallowing, diabetes, hypothyroidism, cerebral atrophy and other issues. When a patient receives a kidney via transplant, the new organ is unaffected by the disease.

Before their transplants, Ava and John Ben had already started dialysis.

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The siblings’ mother told the news outlet, that the call about a potential donor first came for Ava, and that when she asked about John Ben, it was determined that he too was a good match. On Friday, the pair underwent their surgeries within hours of each other.

“I’ve never seen this before, in my 10 years of medicine,” Dr. Daniel Gebhard, who works in the hospital’s pediatric intensive care unit, told The San Antonio Express-News.

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The family does not know the donor’s identity, but said they never thought relief for their children would “happy on the same day.”

“We truly feel blessed,” John Shepperd told The San Antonio Express-News.