SAN ANTONIO — The odds of having a rare disease called cystinosis is one in 200,000 people worldwide. Two out of the less than 500 people in the U.S. are siblings John Ben, 18, and Ava Shepperd, 14. They were born with the disease and face the threat of kidney failure as a result.
“For the first fifteen months, John Ben was completely normal,” said John Shepperd, the siblings’ father. “He just started falling off.”
After learning about the rare genetic disease, Shepperd learned that he and Kim Azar Shepperd, the siblings’ mother, were non-symptomatic carriers and both of their kids had been born with it. The siblings were put on a waiting list for kidney transplants. John Ben waited a year, while his sister, Ava, waited a month. Last Thursday, their mother received the phone call they had been hoping for.
“We actually joked about this,” Azar Shepperd said. “We’d say to each other playfully, ‘it’d be so cool if you could both get a donor from the same person at the same time,” and that’s exactly what ended up happening.”
Doctors called Azar Shepperd confirming that one donor’s kidneys were found to be highly compatible matches for the brother and sister. The donor’s information could not be released, but University Hospital doctors shared the magnitude of their generous decision to donate their organs.
“One donor who’s willing to give, that has good organs, can potentially save eight lives,” said Dr. Elizabeth Thomas, Transplant Surgeon for University Hospital. “An incredible donor saved many many lives. At our center alone, four lives were saved.”
The siblings recounted their reactions to receiving the call about the good news. Ava thought she was in trouble when her mom shouted for her get downstairs, and John Ben was ecstatic. “A guy I play a lot of online games with said, ‘Hey man, you want to queue up for a game?’ and I was like, ‘Nah, I just got a kidney…I don’t think I can concentrate right now.’”
KENS 5 asked the siblings what they would say to the kidney donor if they had the opportunity, and their responses were a resounding “Thank you!”
“I’m just so grateful that they decided to check that little box. It saved our lives,” Shepperd said.
For more information about organ transplant, click here, or contact the University Transplant Center at (210) 567-5777.