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.
Read more on how these parents are searching for a cure at the link in bio.
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