Celebrating Differences on Rare Disease Day

Local News

One in ten Americans is affected by a rare disease or disorder. More than half of those affected are children.                

Tuesday is Rare Disease Day.

It’s a day to celebrate the families and children affected by diseases so rare that many people have never even heard of them.

But, mom, Amber Thompson, spends every day celebrating what makes her daughter, Shelby special.

“She’s a cuddler, she loves to laugh.” Thompson says of her daughter, Shelby Baker.

Just like the shirt says, 8-year-old Shelby is one in a million.

“Right now, we think that there’s about 300 diagnosed worldwide.” Thompson explained.

Shelby has Pallister-Killian Syndrome, an extremely rare genetic disorder. The diagnosis came when she was just 12 days old.

“She’s legally deaf and legally blind and that’s more because her range is so outside the normal range, she’s completely non verbal, she does not walk…” Thompson said.

It’s the only known case in central Illinois.

“It’s, it can be tough, we definitely have our good days and our bad days,” Thompson explained. “You always want to look for the silver lining and it actually hasn’t been that difficult with her because she is always so happy and loving.”

Despite a few challenges along the way, Shelby is more like any other 8-year-old girl than she is different.

“She’s a little girl that loves to smile and loves her family and she loves the sun on her face and the wind and while she is so different is so like other little girls, too.” Thompson said.

She’s using her differences, and infectious smile, to help those she meets see the world a little differently, too. 

“I think I’m a completely different person now that I’ve had her. She’s taught me patience, she’s taught me kindness, that everything doesn’t have to be perfect to be wonderful.” Thompson said.

Thompson says that Shelby has inspired her to make a switch in her career path, she’s getting ready to open an in-home daycare for special needs children. 

You can find more information about Rare Disease Day here.

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