Two siblings with a rare genetic disorder received life-saving kidneys from the same donor on Friday, an experience as rare as the diagnosis, according to specialists at University Hospital, where the transplants took place.
Ava Shepperd, 14, and her brother John Ben Shepperd, 18, suffer from cystinosis, a lifelong condition diagnosed in childhood – typically by 6 months of age – that slowly destroys the organs in the body, including the kidneys, liver, eyes, muscles, and the brain, due to abnormal accumulation of the amino acid cysteine.
Only 500 people in the United States have this diagnosis, and 2,000 people worldwide, said Dr. Elizabeth Thomas, pediatric critical care specialist with University Hospital. An estimated 20 new cases of cystinosis are diagnosed each year.
“It is exceptionally rare [to have siblings with the same diagnosis receive needed organ donations] on the same day from the same person. Kidney allocation is pretty complicated. It’s a ranking mostly dependent on how long someone has been on dialysis. So the fact that these kids both had their name come up at the same time and they were both a match for this donor is very unique,” Thomas said.
John Ben was diagnosed with cystinosis at 14 months, while Ava was diagnosed in utero, said their mother, Kim Azar Shepperd. Since then, both had to take handfuls of medications per day to regulate symptoms and stave off kidney failure. “We have known since the beginning that they would both need kidney transplants, but there was no way of knowing when that would be. And these kidneys are basically perfect, more than we could have ever hoped for.”
Ava and John Ben had been on dialysis for kidney failure for extended periods of time before the organs became available — Ava for six months and John Ben for more than two years.
John Ben told the Rivard Report that he is excited to receive a kidney ahead of graduating from high school at the end of the month.
“I did all of my dialysis at home at night, and I had to be home for the entirety of the night because it took eight hours to complete,” said John Ben whose dialysis was required daily. “This started my sophomore year in high school, so it was a little troublesome.”
Seventh-grader Ava completed dialysis at least three times a week, with each session lasting over three hours. “Being on dialysis taught me to value my friendships, because I missed out on so much at school and with my friends because I had [to complete treatment],” Ava said.
The family got word at 7 p.m. Friday that both siblings would receive kidney donations from a deceased donor who was a 92 percent match, after spending more than a year on the transplant list for John Ben and three months for Ava.
Because an organ transplant can only be given to a healthy recipient, John Ben had been unable to receive an organ on three separate occasions when his name came up because he was very sick at the time, which is a big reason they received them at the same time, Azar Shepperd said.
Ava lives with her mother in Alpine, while John Ben resides with his father, John Shepperd, in Austin. Both were registered on the University Hospital transplant list, which does not require a recipient to live in San Antonio as long as they meet organ donation criteria, Thomas said.
“If you meet the criteria we will register you to receive an organ. If no one on our list needed these kidneys,” they would have been made available first regionally, then nationally, to those who did, Thomas said, noting that children are prioritized on organ transplant lists “because that’s how it should be.”
To take care of their new kidneys, the siblings will take multiple daily medications to ensure that the new organ remains healthy as it acclimates to the body, said nephrologist Ikuyo Yamaguchi. “But the exciting part about this transplant is that it took place just three days ago and these kids are doing very well immediately after.”
The entire transplant experience took less than 24 hours between calls made about the organ availability to the organs being transplanted in each child, Shepperd said.
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“We never in million years would have guessed that they would be receiving kidneys on the same day at the same time. It was an amazing experience and an amazing testament to the importance of kidney donation programs and organ donation programs around the country. We feel truly blessed and extremely fortunate,” Shepperd said.
Ava and John Ben will have to follow up with doctors for one year to make sure that the organs remain healthy and are not rejected by their bodies. Because of this, John Ben plans to attend Austin Community College before moving to Colorado to pursue a degree in information technology. Ava will start eighth grade at Alpine Middle School, where she looks forward to having a “more normal experience.”
“I already feel better and healthier, like I can do more,” Ava said.