Raising awareness for rare diseases

HealthBeat

SIOUX FALLS, S.D. (KELO) — February will have an extra day this year to account for leap day on the 29th.

But the 29th also represents another important day– Rare Disease Day.

7-year-old Jackson Horsted is TV ready, sporting his favorite team’s jersey for his on-camera moment.

“I love Stampede hockey,” Jackson said.

While excited to talk about his favorite sports team, he’s also raising awareness for something else.

“He’s been diagnosed with a rare genetic disease called Salla disease, less then 200 known cases in the world,” Ian Horsted said.

Jackson’s dad Ian says while there have been some challenges, his son’s disease isn’t slowing him down.

“He can’t process sialic acid as a normal person could so it’s just caused some physical and mental delays. But he actually does really well and he’s fortunate to have a lot of the abilities he does have,” Ian said.

In fact, he says Jackson is a social butterfly who never misses the opportunity to get out of the house with family.

“He just has a blast everywhere he goes, it’s fun to watch him,” Horshed said.

Ben Forred with Sanford Research says because more than 7,000 diseases are categorized as rare, a diagnosis isn’t always easy.

“Often families will spend five to seven years on average on what’s called a diagnostic odyssey. There’s often a misdiagnosis, or a cascade of misdiagnosis that lead eventually to, hopefully to the solution,” Forred said.

Doctors diagnosed Jackson just two years ago, and after searching for answers Ian was relieved.

“It can be a little frustrating, disheartening just to not know what’s wrong with your child, your baby, and so it was kind of a relief to finally know what it was and try to start to research it from there,” Horsted said.

Forred says raising awareness is a crucial step when it comes to promoting more research into rare diseases.

“The more that we’re able to bring attention and shine a light on rare disorders, families of rare disorders the more we can learn about them,” Ben Forred said.

While the journey to answers isn’t always easy, Jackson is making sure everyone is doing alright along the way.

People with a rare disease can enroll in Sanford’s CoRDS registry, which can potentially accelerate research into rare diseases.

For more information, click here.

Copyright 2020 Nexstar Broadcasting, Inc. All rights reserved. This material may not be published, broadcast, rewritten, or redistributed.

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