Long Island couple seeks cure for young daughter diagnosed with rare genetic disorder known as PKAN

On June 12, Massapequa resident Kaitlin Norton said she returned home from her daughter's six-month checkup feeling content.

According to her pediatrician, Madeline — a little girl with bright blue eyes and an infectious smile — was a healthy baby hitting all her milestones.

But later that same day, Norton said she received the kind of call every parent dreads: Madeline had tested positive for a rare genetic mutation.

Norton, 29, and her husband Gerard, 32, would later learn that the mutation, found in the PANK2 gene, meant their daughter had pantothenate kinase-associated neurodegeneration, or PKAN, a rare disorder that affects one's ability to walk and talk. For many, the life expectancy is 10 to 12 years.

"You drive around and everybody's just going on about their business," Gerard Norton recalled. "My entire life just shattered."

Early signs of illness

Kaitlin, an emergency room nurse at Stony Brook University Hospital, and Gerard Norton, a police officer in Nassau County, said they noticed signs of stiffness in their daughter from the time she was born. For example, she was able to hold her head up from an early age.

"She wasn't that cuddly baby that just fell into you and slept," Kaitlin Norton said. "She didn't like being on her back and she was just overall stiff. She always held her hands in this boxing stance."

When Madeline was about 2 months old, it became more difficult to dress and change her. The Nortons said they took their daughter to her pediatrician, who confirmed the girl had increased muscle tone.

Madeline underwent two MRIs and was referred for genetic testing. Her parents also underwent gene screenings.

When the results of the tests confirmed Madeline’s gene mutation, the couple learned they were carriers for PKAN, meaning their offspring had a 25% chance of a diagnosis.

About 3 in 1 million children are diagnosed with PKAN. Symptoms usually show up when a child is 2 to 4 years old as signs of developmental regression.

Neither Kaitlin nor Gerard Norton had heard of PKANs before the diagnosis. Although they had both undergone testing while Kaitlin was pregnant, PKAN was not a disease screened in prenatal exams.

The parents learned about PKAN and its average life expectancy through a Google search.

The PANK2 gene provides instructions for making an enzyme called pantothenate kinase 2.

Without the enzyme, a child develops an excess of iron in their brain, which causes motor dysfunction and mobility issues.

As iron accumulates, Kaitlin Norton said Madeline will lose the ability to walk, swallow and talk and potentially have vision impairment. She will most likely have a feeding tube and will need to use a wheelchair.

"The way I describe it is like Parkinson's for babies, but worse," founder and president of PKAN nonprofit Loving Loic, Sherine Blackford said. "They're affected by this dystonia that can be so severe that it breaks their bones, and ... these endless muscle contractions that they can't control."

You'd never expect your loved one, your family, to ever be diagnosed with a rare disease.

— Kaitlin Norton, an emergency room nurse at Stony Brook Hospital

Said Kaitlin Norton: "When you hear [about] these diseases at work, you don't know it until you're living it. You'd never expect your loved one, your family, to ever be diagnosed with a rare disease."

When Kaitlin and Gerard Norton discussed the diagnosis further with their pediatrician, he told them that the only cure, gene therapy, was possible — but not available due to a lack of funding.

In their research, the Nortons learned of the nonprofit Loving Loic, created by parents of a PKAN child. The organization supports the Gene Therapy Project run by PKAN physician-scientists at Oregon Health & Science University and scientists from the Horae Gene Therapy Center at UMass Chan Medical School.

While the project has reached its third phase of testing on large mammals, it has raised $2 million of the $5 million needed to eventually hold human trials by 2026.

Blackford said for children like her 4-year-old son, Loic, and Madeline, timing is crucial to save their lives.

Gene therapy can stop degeneration in its tracks, but the brain does not regenerate, she said.

"If we can do that, we should have, we should hopefully have this into our babies within, yeah, the next 24 months," Blackford said. "There's a tipping point in time where a gene therapy is the right treatment for one patient, versus alternative treatments, where you're kind of coping with symptoms."

Savoring each moment

After taking a few weeks to process Madeline’s diagnosis, the Nortons decided not to take any moments for granted.

Kaitlin Norton began posting daily videos about PKAN and her daughter's diagnosis on her TikTok profile, which she renamed "Madeline’s Mission," and created an Instagram account with the same name. Her first video, posted on July 24, received more than 20,000 likes.

The couple has raised more than $57,000 for Loving Loic for gene therapy.

These days, the family said they have a new outlook on life. Both Kaitlin and Gerard continue to work full time but spend more time doing activities as a family, such as going apple picking, taking trips to the Long Island Aquarium and frequenting their favorite coffee shop.

Madeline is continuing to hit all her milestones and is a happy baby who loves Mickey Mouse.

Since Madeline was diagnosed with PKAN so young, she is undergoing preventive treatments such as physical therapy, consistent checkups with an ophthalmologist and taking vitamin supplements. 

The family also travels to the Children's Hospital of Philadelphia every three to six months for Madeline's checkups.

Most recently, community groups such as Stony Brook ER and the Amityville Police Benevolent Association are hosting upcoming fundraisers to help the Norton family with medical and travel costs.

We're going to make life bountiful for her and fulfilled, and we'll just fight for her.

— Kaitlin Norton

The Nortons said they are touched by the support of the community and Madeline’s doctors during this unfathomable time.

"I think what keeps us going the most is just hope," Kaitlin Norton said. "We're going to make life bountiful for her and fulfilled, and we'll just fight for her."