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Madeline Norton was diagnosed with a rare genetic mutation, causing her family to change their outlook on life.<\/p>\n
Photo provided by Kaitlyn Norton<\/p>\n
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.<\/p>\n
\u201cWe had noticed that she was a little stiff when she was first born, but we didn\u2019t think anything of it,\u201d Kaitlyn Norton said.<\/p>\n
The Massapequa couple said Madeline would be in a \u201cboxing stance\u201d most of the time. Gerard Norton said his mother pointed out on several occasions how Madeline was \u201csupposed to be like a limp little baby in your arms.\u201d<\/p>\n
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.<\/p>\n
On June 12, the couple got the information that no parent wants to hear.<\/p>\n
Madeline was diagnosed with Pantothenate Kinase-Associated Neurodegeneration, or PKAN, a rare genetic mutation that affects a person\u2019s 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.<\/p>\n
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.<\/p>\n
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\u2019s diagnosis, leading them to find a new medical center to consult.<\/p>\n
The family travels to the Children\u2019s Hospital of Philadelphia every three months for checkups.<\/p>\n
\u201cThey have been so amazing to us,\u201d Kaitlyn Norton said. \u201cYou genuinely feel that they want to help you.\u201d<\/p>\n
And with everything going on, the couple said they want to spend as much time together as possible.<\/p>\n
\u201cWe took a few weeks for ourselves,\u201d Kaitlyn Norton said after Madeline was diagnosed. \u201cThe next few weeks we were grieving the life that we sought.\u201d<\/p>\n
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.<\/p>\n
\u201cIt all just means a lot more to us now,\u201d Kaitlyn Norton said. \u201c It definitely changed our outlook on life.\u201d<\/p>\n
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The Nortons said they try to spend as much time together as possible since Madeline\u2019s diagnosis. Photo provided by Kaitlyn Norton<\/p>\n
The couple said they felt alone in their battle, leading to the creation of Madeline\u2019s 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.<\/p>\n
@madelines.mission highlights Madeline\u2019s journey and spreads awareness on Instagram, TikTok and Facebook.<\/p>\n