CHARLOTTE, N.C. (WBTV) - We love Emily Cook from Shelby. Emily has KIF1A Associated Neurological Disorder (commonly called KAND). Her mom, Julie, is amazing. Constantly researching and trying to find answers. Has been for years. She sends wonderful updates and the email she sent this week was jumping with enthusiasm. Read through it and you understood why.
“We went to a KAND Family and Scientific Engagement Conference in New York this past Friday and Saturday,” she said. “I’ve attached a group picture. It’s amazing! WE ARE NOT ALONE. These are our people. This is our foundation of KIF1A.org. All the people in this photo have lives touched in some way by this rare disease. There were families there from Australia, Sweden, the UK, Germany, Spain, Mexico and all over the US. All in that one group picture.”
I’ll put the picture below in comments.
On a more micro-level, the conference gave Emily confidence. Before last Friday, she’d never in her life met another child with KAND.
“As an almost 15-year-old about to start high school, it was great for her,” Julie wrote. “We were in a place where children used walkers or wheelchairs and leg braces and no one stared or paid attention. Instead of making fun of the equipment, people were saying, ‘Those braces are really cool,’ or ‘I love that color walker or chair.’ Parents were sharing information about brands. We were all in the same place.”
As we’ve pointed out in past #MollysKids posts, Emily was one of only 66 people living with KIF1A in the world when first diagnosed. Now there are about 200 cases. There is one doctor – Dr. Chung – trying to find a treatment for kids with KIF1A. She spoke at the conference about how she believes many kids are misdiagnosed as having Cerebral Palsy, when really, it’s this.
Emily, in fact, was first misdiagnosed as having CP.
“All of us had tears at the conference when one mom spoke about how she lost her child this past Valentine's Day,” Julie said. “I looked down the row from me and saw two research scientists also crying. I feel like hearing the personal story will help give urgency to try that much harder to find a cure.”
Though no breakthrough yet, Julie is confident there will be.
“I really want to make sure other parents know about this illness in case they are being misdiagnosed," Julie said. "If you write about this update for #MollysKids, will you include that? Please? That if you have a child or adult diagnosed with Cerebral Palsy and it just doesn’t seem to fit – or if that person starts to worsen, which Cerebral Palsy doesn’t typically do – check out KIF1A.org. Look at the symptoms. Even send an email to see if you can get recommendations of how to get genetic testing.”
If you have any questions, Julie will be reading all these comments as well. Feel free to ask.
“The Good, The Bad and the Always Real”… this definitely falls into “good.”
Past posts on Emily >>
- July 27, 2017 >> http://tinyurl.com/EmilyCookMKs
- February 28th, 2018 >> https://tinyurl.com/RDDEmilyMKs
- February 21st, 2019 >> http://tinyurl.com/EmilyCook3MKs
*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.