Tim and Kelsey Drury said things appeared relatively normal at the beginning of their son Jack’s life.
Jack was delivered at 33 weeks because Kelsey developed a pregnancy complication, but Kelsey said her son “blew the doctors away with how quickly he caught up.”
“We were like, ‘This is great, he’s going to develop normally and everything,’” she said.
But as time went on, Jack’s development started to plateau. He never crawled. He never built the strength to roll over. He had trouble with tummy time.
At around 10 months old, Jack was enrolled in early intervention services to support his development. They signed him up for feeding therapy, physical therapy, and occupational therapy. But no one knew exactly what was wrong, said Tim.
“A lot of our specialists and care team that were looking at Jack were also befuddled as to what was causing his delays, because if you look at him, he didn’t have any physical symptoms that would be associated with, for example, a type of muscular dystrophy. We brought him to some other specialists to look at his bone structure, and they said that nothing was wrong,” said Tim.
When an occupational therapist suggested the couple see a neurologist, they visited the Neurology Center for Epilepsy and Seizures in Marlboro, where Jack underwent genetic testing.
The couple spent six “excruciating” months waiting for the results, bracing themselves for the worst, said Kelsey. Ultimately, she said, “I don’t think either of us could have prepared ourselves for this.”
On July 2, shortly after their son’s 2nd birthday, the Drurys got a life-changing diagnosis — Jack had infantile neuroaxonal dystrophy, a rare and fatal neurological disorder for which there’s no cure or treatment. Right now, doctors can only help manage symptoms and support quality of life.
“The first few days after that were spent in utter heartbreak and despair,” said Tim.
Now, the couple is channeling their grief into the search for a treatment. In early August, they partnered with New Jersey-based nonprofit INADcure Foundation to launch Jack’s Miracle Mission, an awareness and fundraising campaign that aims to raise funds for a gene therapy clinical trial that will give Jack, and other children like him, a chance at a future. As of Wednesday, their campaign has raised more than $545,000.
Children with infantile neuroaxonal dystrophy often need assistive devices like the gait trainer that Jack is using here. Courtesy of Tim and Kelsey Drury
Infantile neuroaxonal dystrophy is one of three types of PLA2G6-associated neurodegeneration, a rare neurodegenerative disorder caused by a mutation in the PLA2G6 gene. This means babies born with it initially appear healthy but as they get older — usually between the ages of 6 months to 3 years old — they start to have neurological issues, according to the National Institute of Neurological Disorders and Stroke.
Among the first symptoms are rapid, wobbly eye movements, floppiness in the head, body and legs, and an inability to sit, crawl or walk.
“That can progress over the next several years as a persistent deterioration where they lose the ability to talk, walk and become very limited. Some kids even have difficulty swallowing and eating, so they wind up needing a lot of support,” said Dr. Darius Adams, a clinical and biochemical geneticist who’s medical director for the Jacobs Levy Genomic Medicine and Research Program at Atlantic Health.
Kids with the disorder often have weakened immune systems and are more susceptible to infections. Many children don’t survive past 10 years old, said Adams, who’s also the division chief of Goryeb Pediatric Genetics and Metabolism.
It’s unknown exactly how many people in the world have the disorder. It’s estimated to affect about 1 in 1,000,000, according to the Rare Genomics Institute, a non-profit organization focused on patients and families affected by rare diseases worldwide.
It’s hard to know how many people have the condition because it requires sophisticated genetic testing to make a diagnosis, said Adams.
“It’s possible that in other area of the world where there isn’t much accessibility to this type of testing, there could be kids who are undiagnosed,” he said.
But getting genetic testing is just the first hurdle. Once parents have a diagnosis, they’re faced with the stark reality that “there really is no treatment anywhere in the world,” said Adams.
That was unacceptable to Leena Panwala, whose daughter Ariya was born in July 2014. The first year of her daughter’s life, “things were really, really good,” said Panwala, who lives in Fairfield.
Then, when her daughter was about 15 months old, Panwala noticed Ariya’s pupils shaking back and forth. That began their diagnostic odyssey, beginning with an ophthalmologist, then a neuro-ophthalmologist, a neurologist, a developmental pediatrician, and finally a geneticist at Children’s Hospital of Philadelphia, said Panwala.
Leena and Anil Panwala with their daughters Ariya, 11, and Alaya, 7.Courtesy of Leena Panwala
By the time Ariya was diagnosed with the terminal disease in September 2016, just two months after her 2nd birthday, she could no longer sit up independently or reach for toys. Today, she is 11 years old and requires round-the-clock assistance.
Panwala searched online for an organization that could help her navigate her new reality, but she couldn’t find one focused solely on this one condition.
“It’s not really on anyone’s radar. There’s not enough research dollars that go into it, and that just didn’t sit well with me. I needed to feel like I was doing everything in my power for my daughter and other kids like her,” she said.
She officially formed the INADcure Foundation in April 2017 with the ultimate goal of developing a gene therapy treatment. Gene therapy is a new area of science that involves using gene-targeted treatments for neurological conditions. Currently, about 40 cell and gene therapies are approved for use in the United States, according to the Food and Drug Administration.
After years of searching for a biotech partner without success, INADcure decided to sponsor the development of a gene therapy treatment independently. The foundation assembled a team of scientists, researchers, and manufacturing experts to drive forward research.
It partnered with the Rare Genomes Project at the Broad Institute of MIT and Harvard to publish a study calculating the prevalence of PLA2G6-associated disease, which had not been previously calculated. It collaborated with doctors at Baylor College of Medicine to study potential gene therapy treatments in mice. It also partnered with researchers at Oregon Health and Science University to create a set of best practices for care.
The goal of this research is to produce enough robust data to submit an Investigational New Drug application to the FDA. Panwala said the foundation hopes to submit an application by September.
At the same time, INADcure is also starting the manufacturing process for its clinical trial drug, which can take approximately six months.
Adams, a member of the foundation’s scientific advisory board, said INADcure is not only a fundraiser, “but they’re functioning as a biotech company simultaneously, which is not the anywhere near the norm.”
“This is a model that’s unheard of, but it’s out of necessity because we’ve gone to biotech and they’ve repeatedly told us, ‘Look guys, we feel for you, but there’s no way we can justify the outlay to pull this off,’” said Adams.
If approved by the FDA, the foundation will move forward with a clinical trial hosted by Atlantic Health, with Adams as the principal investigator. However, an additional $2 million is needed to fund the clinical trial.
Whether or not Jack gets to be part of the clinical trial, Kelsey and Tim said raising money for it has given them something they didn’t have before — hope.
“A lot of people have never heard of this before,” said Tim. “It’s something that’s impacting children globally, but where there’s actually hope and potentially some work being done towards some therapy and cures, it’s all being done right here in New jersey, which is pretty remarkable.”
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Jackie Roman may be reached at jroman@njadvancemedia.com.
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