BAKERSFIELD, Calif. (KERO) — When Kearstyn Shaw's son Asher was born, they spent four months in and out of the hospital.
“He would stop breathing and turn completely blue at home," she said, "After I think we did three rounds of genetic testing, they finally found it."
Börjeson-Forssman-Lehman Syndrome, or BFLS. It's a rare genetic disorder with not much research behind it.
“Just didn't feel content with the amount of information that was available. [Our] geneticist basically gave us two articles and said, 'Here, you guys can read this,'" she said. "As a mom, I'm not okay with that."
Kearstyn said what they do know is BFLS causes a range of things like sleep apnea, low muscle tone, developmental delays, seizures and cognitive delays.
She doesn’t want other families to feel the way hers did so she created the nonprofit BFLS Inc.
In this case, BFLS standing for “Born Fierce Living Strong.”
“My hope and goal was just to find more research and get more up-to-date research too because a lot of the information that was available was early 2000s," said Kearstyn.
They’ve held two fundraisers and are now asking for medical professionals to help them decide the best way to use the money.
"Whether it's getting more research done [or] going to a cell and gene therapy company to see if they can [do] any trials," said Kearstyn.
She said it means a lot to see the community’s support.
"It was so neat to see my family and friends, but not just them," said Kearstyn. "Random strangers finding out about the nonprofit and finding out about Asher, and just being so supportive.”
And she hopes her nonprofit spreads more awareness.
"I just hope that other parents and just people in the community realize how much it means when just, you know, not staring, saying kind things [even] if you notice that he is different," said Kearstyn. "Asher's diagnosis itself is really rare but there are so many other rare genetic disorders that families are really struggling to deal [with], and so I hope that they take the time to learn and to just know that just because these kids and these people are different, [doesn't] mean that they're less worthy."
National Rare Disease Day is coming up on February 28 and Kearstyn said they’ll be doing a special campaign. Click here for their Instagram page or here for their Facebook page.
