Piper Lee had just celebrated her first birthday when her doctors told her parents genetic testing was the best way to pin down whether the doe-eyed toddler had a rare genetic kidney disorder called Denys-Drash Syndrome.
Timing was crucial because Denys-Drash causes kidney failure and leads to the growth of a cancerous tumor at around 18 months.
“We knew her kidney failure would come quickly, and we also knew she had an extremely high chance of developing basically kidney cancer,” her mother Erin Lee said.
Genetic testing was a tall order because the lab that could test Piper’s blood fastest was located in Bristol, England. The test took four weeks, the price tag was supersized, and the lab didn’t accept American insurance.
Piper’s parents Erin and Chris Lee were onboard immediately. “Anything that was going to give us more answers, that’s what we wanted to do,” Erin Lee said. “And, it’s a simple blood draw. She was getting a million blood draws anyway. We kind of looked at it like we don’t care what it costs. We’ll figure out a way to pay for it.”
Luckily, Piper was a patient at A.I. du Pont Hospital for Children in North Wilmington. A.I. is billed as a children’s hospital, but parents say it comports itself more like research team supporting their children.
The hospital is supported by the Nemours Foundation, begun under the terms of Alfred I. duPont’s will in 1936 to create his vision of a pediatric orthopedic hospital open to all children.
Erin Lee routinely refers to the physicians there with words like “great” and “saint of saints.”
The hospital covered the cost of the test. Piper’s testing confirmed she had Denys-Drash Syndrome. The nephrology specialists at A.I. were able to tailor a specific and successful treatment for her rare illness. Her father Chris Lee was great match for a kidney transplant.
Piper turned 2 in May. “As long as she stays on her medications and we can minimize her illnesses, the hope at least is her kidney will last 30 or more years,” Erin Lee said.
This story has an even better ending though.
A.I. is growing into a go-to center for pediatric genetic testing across North America. The Mayo Clinic is already sending samples.
Piper’s parents were so grateful that they started Piper’s Kidney Beans Foundation, a nonprofit corporation that raises money and awareness for a pediatric genetic testing lab to be based at A.I. But, even before the family’s foundation kicked off, physicians around the country were taking note of the tests offered by A.I.’s molecular diagnostics lab posted on a National Institutes of Health website.
One test was initiated when Dr. Joshua Zaritsky, A.I.’s chief of nephrology, was lamenting the high cost and low numbers of labs willing to perform a genetic test for kidney stones. To his surprise, Susan Kirwin, assistant director of the hospital’s molecular diagnostics lab said the medical equivalent of, “I’ve got this.”
Kirwin suggested they could send the samples down the hall rather than FedExing them across the Atlantic.
Zaritsky, who had worked at much larger UCLA Medical Center, was floored. “It’s bench-to-bedside, kind of like farm-to-table,” he said. “This was something where I was used to going to a lab and saying, ‘Hey, where can I send this test out to?’’
Research labs can take six months to a year to turn a genetic test around, and commercial labs might charge $3,000 for a single sample and still take a month or more.
“It’s hard to give the lay person an idea of how difficult genetic testing is,” Zaritsky said. “Being able to do it in-house is not only an order of magnitude less expensive, but its also so much easier.”
Zaritsky said the conversation often ends when it gets to genetic testing. “It’s ‘Well, you might have this disease, but….’ It’s frustrating for the patient and for the family,” he said.
The tests A.I.’s six-person lab staff developed from scratch take the guesswork out of diagnoses.
“Now, instead of being given an answer like we don’t know, we’re giving an answer that we do know, and that’s very powerful when you’re dealing with someone’s sick child,” Zaritsky said, “In this day of health care where personalization is so important, this is an example of where we able to offer a service that a much larger hospital is unable or unwilling to offer. “It kind of makes you want to come to work, and it also kind of emphasizes that, ‘Hey, I’m working at the right place.’”
The hospital’s goal was to offer quick testing to families who can’t afford the commercial labs, but the testing has provided unintended side benefits.
Twelve clinicians from outside hospitals have sent samples to Nemours to be tested for the CYP24A1 gene. While 60 percent of the kidney stones genes tested came from A.I. patients, 40 percent were from other hospitals.
On the N.I.H. website and in medical offices across the region, physicians are taking note of A.I.’s on-site pediatric genetic testing lab.
“When doctors are saying, why would I send my patient to this hospital, this has a lot of oomph,” Zaritsky said.
“I wonder if patients in the area know what they have in their own backyard,” he said.