Family asks for help to find treatment for daughter's rare genetic disorder

Published: Mar. 22, 2017 at 9:55 PM EDT
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An 18-month-old Negaunee girl was recently diagnosed with a rare genetic disorder and her family is asking for help.

"Sadie is awesome, but I'm biased," Sadie Scott's mom Shannon Scott said.

Like most 18-month-old's, bubbly, energetic Sadie is always on the move. The ever-curious toddler is also battling a rare genetic disorder called KIF1A-Related Disorder.

Right now there's no treatment for the condition and there are only 20-30 known cases of it around the world.

"She's legally blind right now and low-tone, so she's just kind of weak and floppy," Shannon Scott said.

Sadie spends 4-5 days a week working with occupational, physical and speech therapists.

"Her therapists say she's one of the hardest working babies," Shannon Scott said. "She just started pulling-to-stand and she's really making some awesome gains."

The unfortunate reality is if a treatment isn't found, Sadie will digress, losing the gains she's worked so hard to make.

"If we don't find treatment or a cure her brain will progressively atrophy, or get smaller, and then all these unfortunate things can happen like seizures, paralysis, neuropathies; there's a whole list of scary symptoms that can manifest," Shannon Scott said.

With the help of a

page created by Shannon Scott's classmates, the Scott's are flying to meet with a researcher, Dr. Wendy Chung, who's agreed to pursue KIF1A treatment.

"We have our airfare covered and our hotel room," Shannon Scott said. "We're going out next month to meet Dr. Chung at Columbia and learn as much as we possibly can about this disorder."

The development of a drug to prevent the disease's progression is realistic.

"There is a lot of progress with this gene," Shannon Scott said. "They already have the model in the mouse and they have the gene isolated so it's at a really good spot for research, we just need the funds to pursue it."

Another parent of a child diagnosed with the same disorder has started a 501c3 to fund KIF1A treatment research, which is estimated to cost $100,000.

The Scott family is asking for help to raise funds.

"If anybody could do it, it would be Yoopers," Shannon Scott said. "It's a pretty special place we live, and if 100,000 people each donate a dollar, we would get there. My hope is that we find a cure before her disease progresses so that we can just keep all of the gains that she has made and give her the best life possible."

If you're interested in donating to fund KIF1A treatment research,