KIF1A Associated Neurological Disorder is a rare severe neurodegenerative disease caused by mutations in the KIF1A gene, Amanda Burrett says. Only about 550 known families have been affected.
Amanda Burritt’s daughter Emma is living with one of the rarest conditions in the world. At around 6 months old, Emma began falling behind on her milestones, Amanda tells Inside Edition Digital.
"She wasn't crawling. She wasn't able to sit up on her own. Also, she did have low muscle tone,” she says. “We had her one-year checkup, and the doctor was concerned about her lack of awareness to the environment around her. She had optic nerve atrophy and possible cortical visual impairment. There was nothing that led us to why.”
Test after test was done for months. On Feb 26, 2021, the Burritt family got the results of genetic testing. It was then that doctors determined that Emma has KIF1A Associated Neurological Disorder, or KAND.
“I didn't expect it to be a neurodegenerative disorder,” she said. “It was devastating. It turned our entire world upside down. When you hear the words 'progressive' and 'degenerative,' it's terrifying for your child. I went into fight or flight mode and we decided we're going to fight against our odds.”
KAND is a rare and severe neurodevelopmental and neurodegenerative disease, according to KIF1A.org.
KAND is caused by mutations in the KIF1A gene. There are about 550 known families impacted by the disorder.
Once Emma’s condition was diagnosed, Amanda says her family took immediate action and uprooted their life from Alberta, Canada.
“I immediately started researching where in Canada has the best resources for Emma. Where's the best therapy? Where's the best schools? Where's the best support?” Amanda says. “We sold our house, I gave up my career as a nurse, and we moved to Calgary. We left our whole lives behind. We left our family and our friends. Just to bring Emma to where she would get the most opportunity to thrive.”
Emma, now 4, has various medical complexities and requires full-time attention. She has optic nerve atrophy and cortical visual impairment. She has little to no vision. She is non-mobile and unable to crawl. She is nonverbal. She also uses a wheelchair.
Despite all of this, Amanda says Emma is a happy girl. She loves music, swimming, traveling, going to school and loves new experiences. She also has a great bond with her 1-year-old sister, Callie.
“Emma and her sister's bond is truly magical for me to watch,” Amanda says. “As she gets older, she's infatuated with her. She loves her so much. She does everything. She always wants to be involved in her care.
“I definitely do believe she understands that Emma's different," Amanda continues. "And it's so great to kind of witness your child growing up knowing that there are differences out there, and I can't wait to see what kind of person she's going to become because of this.
Amanda now uses social media to spread KAND awareness.
“I'm constantly advocating for the organization,” she says. “Since Emma was diagnosed, I've gone full tilt trying to raise money. I've hosted fundraisers every year. We've raised over $50,000 as a family to fund research for treatments that are currently in the works right now. “
Because her husband’s job requires him to be away for long periods, Amanda relies on a strong support system.
“It's full-time,” she says. “Just having those people that have stuck by me constantly. Just show us so much love constantly throughout this whole journey. That's what is most meaningful.”
She also encourages other people dealing with a challenging diagnosis to find their communities.
“Find your community. Find people that are going through similar, and truly try to understand what you're going through. I found a lot of comfort in talking to people that share similar journeys because they just get it," she says. "They get the load, they get the stress that we're under. Yea, that's just been a big blessing to have people that I can talk to.”
For more information on KAND, visit KIF1A.org.
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