Families promote advocacy, awareness on National Rare Disease Day

 

GREENDALE, Wis. (CBS 58) -- Tuesday is Rare Disease Day, observed on the last day of February each year.

The national day brings awareness to the 300 million people worldwide impacted by rare diseases, including one in 10 people in Wisconsin.

On Tuesday, CBS 58 heard from a Milwaukee County mom about her family's experience with a rare disease.

Danyelle Sun has an 11-year-old girl, Ruby, and an 8-year-old boy, Landon.

Both children were born with spinal muscular atrophy, known as SMA.

"Imagine all the muscles you have in your body weakening over time, because they're not getting the protein that they need. That's what happens when you have SMA," Sun explained.

SMA is a rare disease. It occurs in one in 6,000 births, and only one to two births a year in Wisconsin.

"They're very happy, independent kids, but as you can imagine, there are lots of troubleshooting and things that we need to do each day to make sure they can do everything they want to do," Sun said.

Landon and Ruby use powerchairs to get around, and often do physical therapy.

While there's no cure or way to prevent SMA, there is an FDA-approved medication that slows it down.

Sun said it has made a huge the difference for her kids.

"They're able to use their arms and hands in ways they have not before," Sun said.

Despite challenges, she believes her family is fortunate to have a treatment that works, unlike most other rare diseases.

"There are many rare disorders, over 7,000, and only 5% of those have an identified, approved treatment for them," Sun explained.

Sun is now a part of the Rare Disease Advocacy Network.

She wants others to understand the importance of awareness for rare diseases, and push for screenings and treatment.

"Don't get too discouraged with where you're at, because you don't know what's coming in the future and what good things will be there and who's working behind the scenes to get you there," Sun said.

The Hoan Bridge will be lit up blue, pink, green and purple on Tuesday night, honoring Rare Disease Day.

For details on rare disease resources in Wisconsin, click here.

For more information on SMA, click here.