HARTSVILLE, Tenn. (WTVF) — Several new laws went into effect at the beginning of this month. One of them helps children, and their families, who are struggling with a very rare disease called Kleefstra syndrome.
Kleefstra syndrome is a rare intellectual disability similar to autism, which comes with other health struggles like hearing, sight, speech and hearing issues.
Fewer than 1,000 people have it in the US; only 8 here in Tennessee. One of them is 9-year-old Anna Kate Toporowski, who loves to clog and play the piano.
Anna Kate's diagnosis hasn't stopped her from living her life — or her parents, Courtney and Jason, from lifting her up.
"Just like any parent, we're gonna do whatever it takes to try and help give the most information and the most treatment that we possibly can so she can have a successful life," explained Jason.
But the diagnosis does come with a cost.
"Especially genetic testing," added Courtney. "That's gonna be the biggest thing is...genetic testing was just so hard to obtain for people price-wise, and so this is going to be, I think, a great thing for families that were struggling with that."
Courtney's talking about the new state bill that just went into law, which requires TennCare to provide genetic testing and treatment for Kleefstra Syndrome, just like they do with autism and Down syndrome.
While the Toporowski family is privately insured, they say this will help Anna Kate when she requires her own insurance at age 26.
"Definitely, we're so excited about the TennCare thing because I'd been wondering at 26 what we would do. You know, because it's so hard to get private insurance if you already have a pre-existing condition, and if you don't have a job that has insurance with it...you know, so that's a big blessing. That's a big burden off of us about the future for her."
After all, Anna Kate's future is what they care about most. They want to address her diagnosis while making sure it doesn't define her.
"While there's nothing wrong with autism, that's not who your child is. Just like her having Kleefstra, that's not who she is. You know, she's Anna Kate. And we're just proud to have her, and I wouldn't change a thing about her. Just happy that she's mine," concluded Courtney.
"We've been blessed," added Jason.
Anna Kate's parents personally thanked the Senator involved in the bill. They hope this step will not only assist families with costs but also help identify more cases, so that all children get the right treatment.
Do you have a similar story to share? You can email me at nikki.hauser@newschannel5.com.
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