When one-year-old Piper’s body began to swell one afternoon, her parents thought she was having an allergic reaction. They had no idea that they were about to embark on a journey of rare illness, complex treatments, and advocacy for children’s health.
Piper’s parents, Erin and Chris Lee, took their daughter to her pediatrician, expecting a quick diagnosis and an easy solution. But Piper wasn’t allergic to anything. Instead, they learned her kidneys were failing; Piper would have to be admitted to Nemours/Alfred I. duPont Hospital for Children immediately.
There, pediatric nephrologists proposed genetic testing for Piper. That’s because, although it was clear that Piper’s kidney function was declining, the cause of her decline wasn’t so obvious. In order to proceed with the best treatment for Piper, her doctors needed to know just what kind of kidney disease they were dealing with. They needed the help of precision medicine, a newer approach for disease treatment and prevention that takes individual genetics into account to create more effective treatments with fewer side effects.
Erin, who works for a genetics lab, was familiar with the advantage that these tests would give to Piper and her health care team. And the more she discussed genetic testing with Piper’s doctors, the more convinced she became that it was a necessary part of saving Piper’s life. There was just one problem: the genetic testing that Piper needed wasn’t yet available in the United States. Her blood would need to be sent to a lab in Bristol, England for proper diagnostic testing.
Six weeks later, the Lee family and Piper’s doctors got the detailed diagnosis they’d been waiting for. Piper’s kidney failure was caused by Denys-Drash syndrome, a rare disorder that’s associated is associated with an abnormal WT1 gene. And while no parent wants to hear that their child is suffering from a rare disease, the diagnosis of Denys-Drash syndrome meant that Piper’s physicians knew exactly how (and how not) to treat her kidney failure, and what to expect in the months to come.
Piper’s abnormal WT1 gene meant that typical steroid treatments for kidney failure would do her more harm than good.
She would need a transplant, and would likely develop bilateral kidney cancer around 18 months. Piper would also need blood tests to confirm that she had the appropriate sex chromosomes (XX instead of XY).
Just as her genetic profile had predicted, Piper was in full kidney failure by summer’s end. She began receiving dialysis, and in October, her care team removed both of her kidneys before cancer could set in. In December, Piper received a kidney from her father, and made it home just after Christmas. She hasn’t spent a night in the hospital since.
The Lee family was thrilled with the care they received and the treatment that precision medicine made possible for Piper. But they wondered: Why can’t every child receive the same kind of fine-tuned care? Why isn’t precision medicine a readily available reality for the kids who need it – especially in the U.S.?
These questions – along with a drive to advance precision medicine for pediatric patients – led the Lees to create Piper’s Kidney Beans Foundation. It’s a non-profit corporation to raise funding and awareness for a pediatric genetic testing lab at A.I. duPont Hospital for Children | Nemours in Delaware. The foundation’s ultimate goal is to provide access to a domestic genetic testing lab that can potentially identify genetic illnesses early and affordably.
Today, Chris and Erin are collaborating with researchers, the Nemours National Office of Policy and Prevention, and government officials to bring attention to the need for pediatric precision medicine. They’re also watching Piper thrive.