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Rare diagnosis brings three families together, raising awareness for SATB2-associated syndrome

Posted at 8:46 PM, Aug 22, 2020
and last updated 2020-08-24 09:20:09-04

BOISE, Idaho — Evan, Dane, and Amelia are three kids with a lot in common: their love of sports, close-knit families, and a rare diagnosis.

"The SATB2 gene foundation is really important to our family, its the diagnosis Amelia has, and there are only about 450 individuals diagnosed," said Cathy Woodward, Amelia's mother.

Out of 450 worldwide, three live here in the Treasure Valley. The SATB2-associated syndrome is a genetic syndrome with many effects. Common ones being a cleft lip and palate and cognitive impacts. People with this syndrome also benefit from having tablets like this, to help communicate.

"It's not, not understanding or not social or not wanting to communicate, but having a really hard time using words," said Dr. Leah Fleming.

Dr. Fleming says more people live with SATB2, but the testing is extremely specialized, and not everyone can receive it.

"We originally thought it was a very rare disorder, but now that it's grown and there's better publicity, the parents have really been tremendous," said Fleming. "There are people around the country and world."

That test carries a hefty price tag.

"This particular test costs about 10,000 dollars, and not all insurance companies will cover it, and luckily our insurer did cover it," said Cathy.

The diagnosis can make all the difference, according to the families.

"When you get that diagnosis and to know that there are other families going through the same thing, it's so helpful it's comforting," said Danielle Duran, Dane's mother.

It also brings a mix of emotions.

"Grieving because there are things and limitations he's going to have but also a relief because we knew what we were tackling," said Katrina McGee, Evan's mother.

These families hope to raise awareness, which can lead to more people getting the resources they need and changes inside the classroom.

"Not just put them in a room and teach all special needs kids together in a group but to actually mainstream them because it's really important to mainstream them as well," said Todd Woodward, Amelia's dad.

Awareness can also lead to more people learning to communicate and make friends with kids, like Amelia, Evan, and Dane.

"They're wonderful people, they want to be included," said Cathy. "I think some people may not know how to play with or talk with a friend who is nonverbal, but if you like to go to movies, Amelia loves to go to the movies."