LI couple seeks cure for daughter diagnosed with rare disorder 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.

WHAT NEWSDAY FOUND

A Massapequa couple discovered that their daughter tested