Peyton, a rising sophomore catcher, was prepping for the travel softball season – played during the summer – when sickness set in.

Not abnormal, especially for a teenager who spent hours in the sun and heat each day, or who sometimes forgot to take her allergy medicine.

So, Peyton’s mom, Kristy, didn’t think much of it, even letting Peyton take part in a softball tournament that weekend after her daughter’s symptoms seemed to improve.

When the illness not only persisted but got so bad that Peyton had trouble eating, drinking and swallowing over several days though, the family knew they needed to seek care, reaching out to the experts at Children’s Hospital of Philadelphia (CHOP).

Primary hyperoxaluria diagnosis, CHOP at Virtua Voorhees

“I just couldn't get out of it,” Peyton said, recalling the illness as “truly horrible.”

At the local doctor, she underwent a physical exam and several other tests. No diagnosis or immediate concern was determined – at least not right then.

“I'm in third period maybe,” Peyton said, recalling the next day at school. “And they're like, ‘Peyton, you're leaving, your mom's here.’ No context, no nothing.”

Kristy and Peyton “scrambled” straight from school to the emergency room at CHOP at Virtua Voorhees, where Peyton received fluids and underwent another battery of tests.

Once Peyton was in a safe place in terms of her immediate health, doctors instructed Kristy to make an appointment with CHOP’s Division of Nephrology.

As it turned out, the fevers were a byproduct of an issue with Peyton’s kidneys.

By the time Kristy and Peyton reached CHOP at Virtua Voorhees, Peyton’s kidneys were operating at about 35% capacity.

CHOP and Dr. Lawrence Copelovitch

Days later, Peyton and Kristy traveled to Philadelphia to meet with Lawrence Copelovitch, MD, to discuss Peyton’s full diagnosis – primary hyperoxaluria type 1, leading to chronic kidney stones and kidney disease.

The product of a recessive gene carried by both parents, Dr. Copelovitch, explained that Peyton’s body had been creating too much oxalate, in turn leading to kidney stones and possibly even kidney failure.

From the moment they met, Dr. Copelovitch and the family – specifically Peyton, who considers him her “best friend” – have enjoyed a strong relationship.

“He knows how to handle her and that's why I love him,” said Kristy.

Still, receiving her diagnosis wasn’t easy for Peyton, even if it did come from Dr. Copelovitch.

“Walking into CHOP and he's asking me questions about my life, I was like, ‘Oh no. This has to be somewhat serious,’” Peyton recalled. “And then he told me that I was going to have to take a jug of pee to get it tested every six months.

“And I knew that something was even worse.”

That “jug of pee” is part of urinalysis, checking a day’s worth of Peyton’s urine for oxalates, an element of treatment that’s certainly taken some adjustment.

Just like the intermittent blood tests and electrocardiograms and all the other tests needed for Dr. Copelovitch’s treatment plan, created alongside the family, with Peyton’s diagnosis – and personality – in mind.

“My favorite thing Dr. Copelovitch has ever told me is every time I walk into the office that I'm so negative that he has to be positive,” Peyton said with a laugh.

Kidney stones and siRNA therapy

Before she got sick, leading to the discovery of her hyperoxaluria, Peyton endured a mystery “attack,” as Kristy dubbed it.

It was before a game, Peyton and the trainer trying everything to ease what they all assumed was a strained back muscle.

“I would try and stand; my back would lock up,” Peyton said.

The assumption, of course, was that Peyton was far too young for kidney stones. Kidney stone pain is often localized to the lower left side of the diaphragm and can sometimes mimic general issues like back pain.

A month later, she received her primary hyperoxaluria diagnosis, meaning the mystery pain was, in fact, likely a kidney stone.

Peyton’s treatment, fortunately, involves something she’s already great at – staying hydrated. She also drinks potassium citrate and takes vitamin B6 every day.

Most importantly, she’s also doing siRNA therapy. Delivered as a shot, once a month at first and then every four months thereafter, it’s intended to help lower urinary and plasma oxalate levels in children.

Lithotripsy surgery and long-term treatment

Right away, Peyton knew this CHOP visit would be different.

“Usually when I go in, I know what room I'm going in, I know what doctors, I know what elevator,” Peyton said. “There's a routine.”

This time though, she met with pediatric urologist Arun K. Srinivasan, MD, MRCS, to discuss the “mass” of stones impacted in her kidneys – 15 years’ worth, in fact.

With her long-term kidney function in mind, Dr. Srinivasan performed lithotripsic surgery to “blast” the stones with shock waves, also placing a stent to help any debris pass naturally.

While the hope was to remove between 90% to 95% of the stones through this procedure, they were only able to safely manage about 60%.

“They were putting too much pressure on her kidneys,” Kristy recalled.

Peyton will return to CHOP to have the stent removed. Later, she’ll come back to Philadelphia to again have the right kidney addressed through a lithotripsical procedure.

The hope is, by that time, the left kidney will be in better shape.

What’s next

Early on, Dr. Copelovitch cautioned Kristy that Peyton’s kidney might never again reach 50% capacity. With Peyton now 16, they’re already at 55%.

“Just an amazing staff,” Kristy said, adding that she was able to “lean on” Drs. Copelovitch and Srinivasan and the rest of the CHOP care team.

Happy as she is with her improved health, Peyton tries not to treat primary hyperoxaluria like an everyday thing. She stays hydrated, of course, and takes her B6.

But she’s only aware of her diagnosis on the rare days she has a shot, in a way, considering herself to “have the disease just for that day.”
Of course, there are still hurdles to overcome, some worse than others – like working with a nutritionist and potentially cutting down her salt intake, maybe the second biggest fear of Peyton’s life.

“Salt, salt, salt, salt; that's my favorite thing.”

But between diet, hydration and meds, Peyton plans to continue improving her kidney function, keeping her body and mind ready to catch her next game, whether it be for her high school or travel team, or maybe someday, even in college.