“MIRACLE IN MOTION”
Stella Knicos could have passed away before she was a year old.
At a Friday reception at the Hilton Garden Inn, she peered up at the older children through tiny pink glasses, her braided pigtails framing her face and the hem of her pink and green summer dress skimming the braces around her legs.
Like the others around her, she’s a child battling Pompe disease. The genetic and often fatal disorder is caused by an enzyme deficiency that results in muscle weakness and difficulty speaking. Other children find it hard to eat or sleep, or experience respiratory problems.
Pompe is very rare and affects about one in every 40,000 live births. This weekend, more than a dozen families from around the world reunited to talk about a disease that few people have heard about, let alone understand.
The Knicos family flew in from New Jersey to participate in the weekend-long socials and educational programs organized by Duke Medicine.
Stella was diagnosed with Pompe at only five weeks old. Her parents, James and Jaqueline, noticed she was wheezing, and doctors found that she had an enlarged heart. Doctors said their daughter was going to die.
“It was like walking into a hole,” Jaqueline said.
Now, with an enzyme replacement therapy that Duke researchers helped discover, children receive a fighting chance of living past a year old.
Stella gets the treatment every week and spends hours swimming in the pool to build up her muscles and going through speech lessons. Stella’s infusions are an hour and a half away in Philadelphia, where she’s the only patient in the clinic with Pompe.
She can’t run around a playground or jump due to her weak muscles. She likes to draw with markers instead of crayons, because she can’t grip the crayons hard enough to color.
Jaqueline said her youngest daughter has taught her to view the world in a different light.
“It’s past a scary point,” she said. “It’s about getting stronger every day.”
The Pompe families haven’t held a reunion since 2006, when the drug enzyme therapy was approved by the U.S. Food and Drug Administration and families from around the world celebrated the milestone together with happy tears.
In the seven years since then, the babies have become kids and the kids have become teens. Many of the baby-faced, unaware smiles have developed into a mature understanding of their conditions, of what they can or cannot physically do.
“Now look at them,” said Duke Dr. Priya Kishnani, who watched as the children chatted with one another at the reception and sorted through cups of crayons, drawing on white notepads.
Kishnani has spent 22 years at Duke, and when she arrived, doctors and researchers were starting the preclinical work to fight Pompe. She joined that team and they began experimenting with quails that had the disease, giving the birds doses of the enzyme therapy.
With the treatment, the birds began to fly.
The research team sought three babies to enroll in their first clinical trial. The phone wouldn’t stop ringing. At the other end of the line, desperate parents sought hope for their children who had less than a year to live.
Jean Kelly from Glenwood, Iowa, remembers crying every day as she fought to get her son that third slot in the clinical trial. Jason is her second child with Pompe. The first passed away a week before his first birthday, having lived on a feeding tube for months after the family was told they could do nothing.
Jason is about to start high school in a week. At 14, he is the oldest surviving patient from the Pompe clinical trials and has known Dr. Kishnani the longest.
Jason is in a wheelchair, but he doesn’t let Pompe define him.
“If you always think about it, you’ll never be happy,” Jason said.
He has served as manager of his middle school sports teams and has participated in the student council. He played basketball and tennis at a wheelchair camp this summer.
“You go from one extreme, to not really being able to do anything, to he’s got a normal life,” Jean said.
Duke’s enzyme therapy clinical trials have turned Pompe from a lethal disease into one that can be managed.
“How can you not stick with this, you tell me,” Kishnani said of her two-decade research journey. “You start seeing kids that are walking. … For me, the job has begun, there is so much to do.”
Pediatric patients are paving the way for adults when it comes to Pompe treatments.
Kishnani is now a Duke pediatrics professor and the division chief of medical genetics. She said newborns are starting to be screened for Pompe, so within the first few days of life, babies can start treatment. Kishnani said her team will work on improving the enzyme therapy, building upon the base they’ve created. And maybe, eventually, there’s hope for a cure.
“It’s great to see all the families are getting together and can smile despite all the pain,” said Rashida Vahed at the reception. Her family took a 22-hour plane trip from Newcastle, South Africa, to attend.
Rashida said she lost a 6-month-old son to Pompe. And when her second son, Abdurrahman, was diagnosed at a London hospital at two weeks old, the family knew they’d do anything to save him.
An echocardiogram at the London hospital told them he had an enlarged heart, that it was Pompe. And doctors said there was nothing they could do.
As Ebrahim, his dad, puts it, they were walking through the streets of London with a 2-week-old baby and a death sentence.
The family turned to Duke, where Abdurrahman was placed on the therapy and turned a downward spiral of speech and walking problems into a good life. He’s now 12.
“People work hard to help other people, and that’s an amazing thing to do,” Abdurrahman said.
Rashida said her son has such a bright outlook on life, that his sense of humor and his solid advice has helped her get through tough days. At the hotel, Abdurrahman was all smiles as he carried a camera around and took photos of the families. During a speech to the crowd, he talked about how his doctors have become his friends.
“If ever we wanted to see a miracle in motion, this is it,” Rashida said.