Kaitlyn and Gerard Norton welcomed their daughter, Madeline, into the world. Six months later, the family found itself in a unique situation, regularly traveling to another state for medical care and trying to enjoy every moment together as a family.
“We had noticed that she was a little stiff when she was first born, but we didn’t think anything of it,” Kaitlyn Norton said.
The Massapequa couple said Madeline would be in a “boxing stance” most of the time. Gerard Norton said his mother pointed out on several occasions how Madeline was “supposed to be like a limp little baby in your arms.”
The couple took their daughter to a pediatrician who agreed that the newborn seemed stiff. The Nortons were then referred to a neurologist, and after a few MRIs, were still left without a clear answer.
On June 12, the couple got the information that no parent wants to hear.
Madeline was diagnosed with Pantothenate Kinase-Associated Neurodegeneration, or PKAN, a rare genetic mutation that affects a person’s ability to walk and speak. There is currently no cure for PKAN and the life expectancy of someone diagnosed with it is 10 to 12 years.
Kaitlyn and Gerard Norton discovered they were carriers for the mutation after the fact by undergoing testing. They had never been screened for PKAN before.
The couple said they found out much of what they know about the disease through Google searches. They said the doctors they had spoken with had not consistently helped them after their daughter’s diagnosis, leading them to find a new medical center to consult.
The family travels to the Children’s Hospital of Philadelphia every three months for checkups.
“They have been so amazing to us,” Kaitlyn Norton said. “You genuinely feel that they want to help you.”
And with everything going on, the couple said they want to spend as much time together as possible.
“We took a few weeks for ourselves,” Kaitlyn Norton said after Madeline was diagnosed. “The next few weeks we were grieving the life that we sought.”
The Nortons said they try to spend their days off doing fun activities as a family, whether it is going to a museum or being outside.
“It all just means a lot more to us now,” Kaitlyn Norton said. “ It definitely changed our outlook on life.”
The couple said they felt alone in their battle, leading to the creation of Madeline’s Mission. Kaitlyn Norton began posting daily videos on social media in July, which has since garnered tens of thousands of likes and thousands of followers.
@madelines.mission highlights Madeline’s journey and spreads awareness on Instagram, TikTok and Facebook.
In addition, a GoFundMe was set up by Madeline’s parents, which has raised nearly $60,000. The couple said the funding will go toward the Loving Loic Foundation, which was established by another family with a child affected by PKAN.
The organization supports the Gene Therapy Project, which is currently developing a cure for the genetic mutation.
The project is now in its third phase of testing and hopes to have gene therapy clinical trials by 2026, the Nortons said.
“That would really lead to a path for recovery for Madeline,” Gerard Norton said.
He said the gene therapy would be put into Madeline’s brain to correct the gene mutation, providing a permanent solution.
“We’re kind of just hoping that with science progressing the way it is, that by the time she’s 3, 4, maybe 5 years old, that we’ve advocated for her enough where people know about it, and we’re able to get gene therapy done,” Gerard Norton said.
The couple has also been a part of several fundraising events.
The Rockville Centre Fire Department, as well as the Mastic Ambulance Corps, has helped raise money for the family.
The next fundraiser for the Norton family will be at the Amityville Boat Parade on Nov. 15.
