Walk in someone else’s genes
Fundraising event planned for KIF1A research
MARQUETTE — Two-year-old Sadie Scott has a condition without a name, but that hasn’t stopped her family from working to find a cure.
Sadie is one of the youngest children diagnosed with a KIF1A related disorder, a rare genetic disease caused by the mutation of the KIF1A gene.
“KIF1A mutations are so rare that this condition does not even have a name,” Sadie’s mother Negaunee resident Shannon Scott said.
Sadie’s grandmother Cathy Dennis said the family first noticed something was wrong when Sadie was less than 5 months old.
“It started out at first with her eyes, because we noticed something. She was moving her eyes a lot but then didn’t seem to be seeing correctly, and so the cortical visual was diagnosed here,”
Dennis said Shannon sensed that there was more to Sadie’s condition than simple vision problems.
“Shannon still didn’t feel like something was right, and they ultimately ended up doing MRI’s and then finally the genetic testing where they could identify that one … gene, the KIF1A,” Dennis said.
After over a year of searching, KIF1A was the one disorder that physicians said fit the symptoms Sadie presented, Shannon said on her Go-Fund-Me page.
KIF1A-related disorder is a rare genetic disease caused by a mutation of the KIF1A gene, a molecular motor protein vital to brain function, according to the KIFA.org website.
Mutations of the gene can cause varying degrees of cerebral atrophy resulting in structural brain changes and a multitude of complications including seizures, spastic paraplegia, contractures, neuropathy, optic nerve atrophy, cognitive and language impairments and decreased life expectancy.
Sadie herself suffers from seizures, severe optic nerve atrophy leading to blindness. She also battles low muscle tone, Scott said.
“Presently the disease is degenerative and sadly most kids are non-ambulatory by age 5,” Scott said. “Several known cases have died in early adolescence as well.”
Sadie currently receives physical therapy, Dennis said. She will eventually be able to walk with the help of a walker and is able to say several words, thanks to speech therapy.
“She crawls a little bit, she likes to climb. She is getting therapy to help strengthen her core muscles, which will help her to walk,” Dennis said. “Considering all the things she has stacked up against her, she is normally a very happy child.”
The Scotts are working with a group of what Shannon refers to as “extraordinarily motivated parents” who have started a 501c3 non-profit organization called KIF1A.Org in order to privately fund research for a cure.
The Upper Peninsula Children’s Museum is hosting an event that will allow U.P. residents to help raise the $100,000 needed to hire a post-doctoral researcher to pursue a cure for KIF1A for one year.
The event, entitled ‘Embrace: Walk in Someone Else’s Genes,” will take place Sunday, Dec. 3 from 5 p.m. to 9 p.m. and is open to children of all abilities.
The event will include expert-led sensory play stations, as well as a low stimulation area designed those that need it, Scott said.
“The funds we raise will have a positive impact on KIF1A research in the future, but the community impact of these interventions would have an immediate influence on any special needs child’s experience in our town,” Scott said.
The event will also feature live “parent-appreciated and kid-friendly” music provided by Rivutlare, Robert Hiltunen, and Strung Together.
≤ The Bell Pediatric Rehab team is tentatively planning an obstacle course for kids to practice navigating a wheelchair or loft strand crutches through
≤ There will be a leader dog for the blind, Floyd Preston and his owner, Gretchen Preston, to educated children on proper etiquette with working dogs. Gretchen Preston will also be selling her children’s book with proceeds going toward KIF1A.Org.
≤ The Negaunee National Honor Society will be do a “read aloud” on autism acceptance
≤ NMU Student Nurses will be reading a children’s book on acceptance and inclusion, titled “Giraffes Can’t Dance.
≤ Negaunee High School peer coaching group will be running some simulations for what it would feel like to have cognitive impairment, hearing, and visual impairment
≤ Northern Orthotics will bring braces and prosthetic arms for kids to try on for education.
≤ MARESA will be running a sensory play station.
≤ A live cooking demonstration by Jessica Manier from SILVA – Sessions in learning vegan accessibility. Manier wil demonstrate modified cooking skills and promoting accessibility to healthy cooking.
≤ A student photographer from NMU, Melanie Hergott, will be taking photos and also displaying her final project featuring photographs of people with different internal struggles that are often unseen.
Dennis said despite Sadie’s diagnosis, the family has found positivity in the face of adversity, with help from the community.
“The best thing about this journey is I can’t believe how generous people are,” Dennis said, “how much people have embraced Sadie and have tried to help her.”
Scott, a nursing student at NMU, said KIF1A research that has been done so far points to a treatment for her daughter’s condition.
“What is exciting is that research to develop a drug that would prevent the progression of this disease is realistic,” Scott said. “They have already found a mouse model and have successfully isolated the gene. There have been other cases where parent-led privately funded researchers have found treatments for rare genetic diseases.”
Dennis said the hardest part of the journey for her is to watch her granddaughter struggle.
“Knowing right now that there isn’t a fix for this.” Dennis said. “It’s hard to remain positive, but we have to keep moving forward to find a cure for this disease.”
Scott said she will keep working to fund research until a treatment is found.
“This is Sadie’s only hope for a cure,” Scott said.
For more information about the disorder and how to help; visit KIF1A.org.
Lisa Bowers can be reached at 906-228-2500, ext. 242. Her email address is firstname.lastname@example.org.