Molly's Kids: Ever heard of K1F1A? Neither had this family, unti - | WBTV Charlotte

Molly's Kids: Ever heard of K1F1A? Neither had this family, until their daughter was diagnosed

(Source: family) (Source: family)
(Source: family) (Source: family)
(Source: family) (Source: family)
(Source: family) (Source: family)

Meet Emily Cook, the newest one of our amazing #MollysKids.

This Shelby girl was having difficulty sitting up by herself at the age of one. Her mom, Julie, knew something wasn’t right and sent her to
physical therapy. By age two, Emily had an MRI which showed that her cerebellum wasn’t developed properly and was impacting her gross and fine motor skills.

Julie says her daughter was given the broad diagnosis of cerebral palsy.

“We didn’t think cerebral palsy was right,” Julie said. “We had questions for over a decade. Multiple doctors and countless tests – we tried everything to really figure out what was going on. By the time she was twelve, she was too exhausted to walk down the hallway and was reading at a first-grade level.”

It was then Emily’s parents finally got their answer.

“Our daughter has K1F1A,” Julie says. “It’s a rare genetic disease.”

It’s neurodegenerative, which means her condition will worsen as time goes on. Emily may eventually lose her sight and ability to walk but for now, is working hard to work around the obstacles she faces.

Julie says Emily spreads love and happiness everywhere she goes: school, church and the Special Olympics NC for the first time this year. She also loves swimming, Walt Disney World and rocking out at country music concerts. Especially her favorite musician, Luke Bryan.

“She has won the hearts of many,” Julie says. “I could go on forever bragging about her.”

Julie is a nurse in Shelby who works part time so she can take Emily to school and therapy. Julie says she and her husband, Greg, have fought
for their daughter her entire life.

“We fought to get her to the best doctors, and will keep fighting to learn more about her diagnosis,” Julie says. “ I will continue to make sure she enjoys life and has her needs met.”

Julie hopes to spread awareness of K1F1A to others, but like many diseases with the word “rare” in front of it, research is still needed. Emily's next neurologist appointment is July 3rd, where her family is hoping for more answers.

Thank you, Julie and Greg, for sharing her with us.


*Editor’s note: This is about one of #MollysKids, children WBTV Anchor Molly Grantham follows closely on her Facebook page. It was first published there – which is why it’s written in a personal way. For years Molly has followed hundreds of kids with uphill medical battles. Find this story (and updates on all #MollysKids) here.

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