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“It’s affected every aspect of his life”: A Chesapeake family’s journey dealing with a rare disease

Ryan Petty, 8, was diagnosed with Niemann-Pick Type C, a rare terminal disease last summer after he started having seizures. His parents have applied to the FDA to use experimental treatment to help with the condition.
Photo by Laura Philion
Ryan Petty, 8, was diagnosed with Niemann-Pick Type C, a rare terminal disease last summer after he started having seizures. His parents have applied to the FDA to use experimental treatment to help with the condition.

Ryan Petty, 8, was diagnosed with Niemann-Pick Type C last summer, a disease that affects only a handful of other children in Virginia, according to his family.

Eight-year-old Ryan Petty was having a good day.

He came home from school early, played with the family dog in his Chesapeake home, and had computer time before getting bundled into the car to go to the doctor. He sang songs from Trolls Band Together. His seizure meds were working.

Ryan’s good days aren’t taken for granted anymore.

Ten months ago, Ryan started having seizures. His parents, Christine and Tom, brought him to the emergency room. The neurologist ran genetic tests to pinpoint the cause.

When the results came back on Aug. 31, Christine Petty’s life became divided in two: before and after doctors diagnosed her son with Niemann-Pick Type C, an ultra-rare terminal disease.

“I'd never heard of it before. … we were told it was terminal,” Christine said.

In Niemann-Pick Type C, or NPC, the body can’t absorb or use cholesterol properly. It affects every cell in a person’s body, with marked impacts on the brain. It’s also called childhood dementia.

The disease is fantastically rare – a 2021 study estimated fewer than one in a million people are currently diagnosed with it. With Niemann-Pick, or NPC, the earlier the onset, the poorer the prognosis. Most people with NPC die between the ages of 10 and 25. One National Institutes of Health study calls it “relentlessly progressive.”

“Over time, it takes away your ability to eat, to walk, to talk, to think,” said Christine, who in the last six months has researched the disease exhaustively.

The Pettys see local providers for almost all their care, except for a yearly trip to the National Institutes of Health in Bethesda, Md. for participation in a longitudinal study of NPC patients. They’ve also been working with a medical research fund at Notre Dame to raise money to find a cure for NPC.

Christine said while the care they get in Hampton Roads for Ryan is good, most doctors tell her they only ever read about NPC in medical school.

“It can be really hard to find care where the provider will be familiar with the challenges and treatment of NPC,” Christine said.

There’s no medication approved by the Food and Drug Administration for NPC. The disease affects each patient’s genes differently, so a targeted treatment has never been developed.

The Pettys and their doctors have submitted a compassionate use request for medicine from the FDA for a drug called 2-hydroxypropyl-beta-cyclodextrin, or HP-beta-CD. HP-beta-CD has influenced cholesterol buildup in early lab tests.

Patients generally apply for compassionate use when there’s no approved treatment for a given disease, and when they can demonstrate an impact on the length or quality of their life. The FDA and drugmakers have yet to approve the Pettys’ request.

In the meantime, Ryan is taking a medication called Miglustat off-label, which helps preserve swallow function and eye movement control.

Ryan is very good at taking his medications, Christine said.

NPC is genetic — meaning Ryan was born with it — but not everyone develops it at the same time or even has the same symptoms. Some infants show signs right away, like a failing liver. Some young children get misdiagnosed with ADHD when they start showing neurological symptoms. This is what happened to Ryan.

The Pettys noticed Ryan was more impulsive and hyper than other kids when he was four years old. He also seemed to have trouble doing some physical things, like swinging on monkey bars. Those symptoms led to Ryan getting an ADHD diagnosis. Christine and Tom now know those behaviors were likely the first onset of NPC.

Until last July, they thought ADHD was Ryan’s biggest challenge.

His speech has changed since his NPC diagnosis. He has vertical supranuclear palsy, and can’t raise his gaze above eye level. He has trouble swallowing, and he has ataxia, so he doesn’t always have full control over his muscles.

“It's affected every aspect of his life,” Christine said. “He'll get tired more easily, he's not as coordinated as he should be.”

Ryan’s fine and gross motor skills have been affected by the disease.

“Sometimes when he can't do something, that's very frustrating for him,” Christine said.

When Ryan got his diagnosis, Christine put her master’s program in clinical mental health counseling on hold to take Ryan to speech, swallow, physical and occupational therapy appointments.

Once a week, he meets with a psychologist.

But, as much as he can, Ryan lives like other eight-year-old boys.

Ryan calls his physical therapy ninja training. As a reward for working on his mobility, his physical therapist gives him homemade Kung Fu Panda trading cards. He can name all the characters – his favorite is Po.

If he could travel anywhere in the world, Ryan would go to Australia to see kangaroos. He has a plan to get there by boat, using cheetah-level speed.

“I'm gonna bring pizza, fruits, gummies and everything else and I'll pack it all in a bag to take to Australia for the kangaroos,” he said.

“He always says, ‘Mom, I think I like being a kid,’” Christine said.

The world changes fast.

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