Paoli family fights insurance’s influence on rare disease treatment

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Before she got sick, 13-year-old Juliet Zangrilli liked to spend time playing volleyball and lacrosse, hanging out with friends, going shopping and being at school, where she’s in the seventh grade.

Then everything changed this past February.

“I’ve been trying to do schoolwork, but it’s hard, because I’ve missed so much,” Juliet said. “I also have to take medicine in the morning and night.”

When Juliet fell ill, a roller coaster of fevers, high blood pressure and heart rate, a rash of small red dots and other symptoms initially mystified experts at the Children’s Hospital of Philadelphia.

A viral infection? Testing ruled out most types. Sepsis? Some of the symptoms fit, but not all. Cancer? There wasn’t enough evidence to support that, either.

Health providers at CHOP ordered genetic testing and eventually gave Juliet’s parents, Gus and Molly Zingrilli, a diagnosis: primary hemophagocytic lymphohistiocytosis, or HLH for short.

“I think for them, as providers, it was a little bit of closure. They certainly weren’t happy that this is what it was, but I think it finally answered all of these questions,” Molly said. “And I typically analyze lab results as a sport, but it was just too close to home. I couldn’t really read too much about HLH because it was too upsetting.”

Primary HLH is a rare genetic condition that causes white blood cells in the immune system to damage other healthy blood cells and organs. Most of the time, it is fatal without treatment.

A majority of diagnoses are caught early in infants and young children when symptoms typically appear. Juliet’s symptoms didn’t show until she was a teen. They didn’t follow a typical path, either, and required a unique treatment plan.

After a six-week hospital stay, and many ups and downs in Juliet’s health stats and labs, the CHOP team found a carefully calibrated combination of medications that worked to stabilize her.

“Her nightly fevers stopped, her high heart rate decreased and all of her inflammation markers came down precipitously,” Molly said. “It was like, oh my God, this is working. She can go home.”

Juliet did go home to Paoli, Pennsylvania, in late March. There, she would continue to take a concoction of medications to keep her stable and as healthy as possible as she awaited a bone marrow transplant, which could cure her condition.

“I’ve tried to explain this to my friends as un-confusing as possible,” Juliet said. “They understand and are really sad about it, but they’ve been supporting me and checking up on me.”

But the Zangrillis and CHOP’s care team ran into another problem: One of the primary medications that Juliet took to keep her stable included an oral drug called ruxolitinib. It’s FDA-approved to treat some blood cancers and graft-versus-host diseases in transplant recipients, but the drug is only in clinical trials to treat pediatric HLH.

That means when Juliet left the hospital and inpatient care, the family’s employer-sponsored health insurance plan with Blue Cross Blue Shield of Illinois denied outpatient coverage of the medication, which could cost more than $17,000 for a 60-count supply without insurance coverage, rebates or discounts.

Gus said this set the family up for another kind of fight: to get the insurers to change their decision.

“We spent full days on the phone, calling the number on the back of the card, talking to like, nine people who didn’t know who we were, still not hearing back,” he said.

This scenario is all too familiar to the health providers at CHOP, who see some of the most complex and rare pediatric diseases and illnesses in the country. Many cases rely on treatments and medications in clinical trials to find something that works well enough to send kids home.

“They [insurance] don’t really have a playbook for these kinds of ultra-rare disease situations,” said rheumatologist Dr. Scott Canna, who is treating Juliet at CHOP. “The knee-jerk response would be rejection because it’s not an FDA-approved indication.”