Born with a severe kidney disorder, 4-year-old Santino now thrivesAn ominous black spot could be seen in the kidney area, and doctors soon confirmed their worst fears: Their baby would be born with a severe kidney disorder, one significantly worse than his older brother had faced. And so began a difficult yet ultimately inspiring journey to save their son Santino, with the help of physicians and staff at Rady Children’s Hospital-San Diego. Along the way would be months of intensive care, two years of kidney dialysis, a lifesaving kidney transplant from mother to son and heart-stopping moments few parents have to bear.
“Sometimes we’d think, How are we going to get through this?” says Santino’s dad, John. But strong faith, a supportive church community and access to Rady Children’s world-class medical care saw them through.
As John and Yvette Pepe viewed their baby’ sonogram – that amazing black-and-white image that gives parents a first peek at their child in the womb – they knew that something was terribly wrong.
Helping Santino Get Strong
Santino suffered from posterior urethral valve syndrome, a rare blockage of the uretha that interferes with proper bladder and kidney formation. “Santino’s was probably the worst case I’ve seen in my career,” says Nicholas M. Holmes, M.D., chief of the Division of Urology and medical director of surgical services at Rady Children’s.
With various complications preventing pre-birth interventions, Dr. Holmes and other specialists developed a post-delivery plan. He adds, “Everything we thought in utero proved to be true.”
Soon after Santino was born, he was placed on a ventilator and put on kidney dialysis. He had kidney failure and couldn’t breathe on his own; due to his in utero kidney disease, the lungs did not have the opportunity to develop normally.
“We knew from the beginning that he would eventually need a kidney transplant,” says Nadine Benador, M.D., medical director of dialysis and apheresis in Rady Children’s Nephrology Division and a clinical professor of pediatrics at UC San Diego.
But that was further down the road. The most pressing need was to stabilize Santino, get him breathing on his own and help him gain weight. Santino spent his first three months of life in Rady Children’s neonatal intensive care unit.
“We’d go every day to see him,” says Yvette. “It was very emotionally and physically exhausting. But the NICU nurses were awesome. They made it so I could sleep at night because I knew they were taking good care of him.”
At 3 months old, Santino was breathing well and had gained enough weight to receive kidney dialysis at home. Dialysis takes over the kidneys’ work to cleanse the body of toxins, a process needed for survival.
“Santino needed dialysis 10 hours a day,” says John. “So every night, at bedtime, we would start the dialysis machine and connect all the tubes and then disconnect him in the morning.”
The process required face masks, closed windows and other rigors to ensure a sterile environment, since infection is one of the greatest risks for dialysis patients.
“It was a lot of equipment, so we mostly just stayed at home with Santino or at the Hospital for the next two years,” says Yvette, who referred to Rady Children’s as the family’s second home.
Santino’s disorder required hospital stays every few months, including three surgeries to remove his damaged kidneys and to repair his bladder. Through it all, John and Yvette and their two other children stayed strong.
“The family has been phenomenal,” says Elizabeth Ingulli, M.D., medical director of the Kidney Transplant Program at Rady Children’s and an associate professor at UC San Diego. “They did everything we asked them to do and more.”
A Mother’s Gift
By age 2 1/2, Santino was big enough to accommodate an adult kidney from his mother, who proved to be a slightly better match than dad, although both were eager to donate. “It’s hard to get a better match than the parents other than an identical twin,” Dr. Ingulli adds. Yvette underwent transplant surgery at UC San Diego Medical Center in November 2011. Dr. Ingulli was in the operating room, and she and a medical courier immediately brought Yvette’s kidney to Rady Children’s, where Santino was awaiting surgery.
“It was kind of a surreal moment,” recalls John with a smile. “I’m at Rady Children’s, and I see this guy walk by with a box carrying my wife’s kidney.”
Both mom and Santino came through the surgery fine, and Santino gained energy and an appetite seemingly overnight. His health improved dramatically as well. “Everything gets better with a well-functioning transplant,” says Dr. Ingulli, explaining that dialysis, while an excellent medical intervention, cannot function as well as a real kidney.
“He’s done remarkably well,” adds Dr. Holmes, who will remain Santino’s doctor until he’s an adult.
Going forward, Santino may need one more bladder surgery and must stay on anti-rejection medications to help his body accept his mom’s kidney. But for the most part, he can lead a full and active life.
“He’s thriving and catching up on developmental milestones,” says Dr. Holmes, also a clinical professor of surgery at UC San Diego. “He’s a typical 4-year-old who likes his Legos and his superheroes. If you look at him now, you’d never know he was so ill.”
Addressing appetite loss in children with chronic kidney disease
Children with chronic kidney disease can experience a loss of appetite, which can lead to weight loss and growth disorders. Although the current treatment approaches (special diets, feeding tubes and painful growth hormone injections) are helpful, none can completely prevent these problems.
Robert Mak, M.D., Ph.D., chief of the Division of Nephrology at Rady Children’s Hospital-San Diego and a professor of pediatrics at UC San Diego, is conducting cutting-edge research to address these issues.
“Children with kidney failure have high levels of the protein leptin, which is known to be involved in regulating appetite and metabolic rate,” says Dr. Mak, also co-principal investigator for the Chronic Kidney Disease in Children (CKiD) Consortium, a national research group funded by the National Institutes of Health.
Through basic science research, Dr. Mak has discovered novel pathways and agents that may be useful in blocking leptin’s effects. “I am hopeful that new therapies can be developed to restore appetite and to improve the overall health status in children with chronic kidney disease,” he says.
Originally published in UC San Diego, October 2013