UP family continues search for treatment of daughter's rare genetic disorder

Published: Apr. 17, 2017 at 10:04 PM EDT
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"She's going to keep progressing, but eventually KIF1A will kind of win and pull her down," Sadie Scott's mom Shannon said.

Sadie Scott's parents are doing everything they can to stop that from happening.

Sadie, a curious, energetic 20-month-old, was recently diagnosed with KIF1A Disorder, a degenerative brain disorder that's caused her to be legally blind and low-tone.

The Scott's just returned from New York, where they met with Dr. Wendy Chung, a geneticist who's agreed to research KIF1A Disorder, and other KIF1A families.

While there, the Scott's were given some tough news.

"Dr. Chung explained that there's a couple different kinds of mutations," Shannon Scott said. "Unfortunately the kind that Sadie has is the stronger of the two options out there."

While emotions ran high on the trip, Shannon Scott said overall, it gave her hope.

"It was really comforting to connect with other families and the fact that Dr. Chung has made a plan for us to pursue with the funds that we raise makes the idea of a treatment for this disease really tangible," Shannon Scott said.

So what's next? For one, they need to get a mouse for the study, which will cost $40,000 to engineer.

"We need to make a mouse that can live with this disorder so that we can breed it and study it and use it repeatedly," Shannon Scott said.

A patient registry also needs to be created so there's a larger patient base for a clinical trial.

They're also starting a bio-bank, which would make skin and blood samples of KIF1A patients readily accessible for those researching the gene.

Something else to note is that this disorder is commonly misdiagnosed as cerebral palsy.

Testing for the KIF1A gene mutation requires whole exome sequencing, which is expensive and some insurance companies may not cover it.

If your family would benefit from whole exome sequencing, Shannon Scott said she's willing to help.

"They can reach out to me," Shannon Scott said. "We can get them in touch with some free testing if they're having trouble with their insurance getting it covered."

The first diagnosis of KIF1A Disorder was in 2011 and the gene lacks research, so it's hard to know how fast Sadie's disease will progress.

Dr. Chung did tell the Scott's the sooner a treatment is discovered, the better.

"It would be better to start treatment before more brain loss occurs," Shannon Scott said. "So she said the fastest she's seen a similar instance progress is five years, but that's not to say that if we get a molecule out there and we can get it to trials that Sadie and the other children wouldn't benefit from participating in the clinical trials of a medication."

If you're interested in donating to fund research searching for a treatment of KIF1A Disorder research,