Family of toddler with rare disease wants to give others hope for help
By Donna Pitman
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MISSION HILLS, Kansas (KMBC) — Three-year-old Maddie Sargent is a miracle. She’s walking and doing things her parents and doctors didn’t know she’d be able to do. She’s also making a difference.
“The day you find out your child is diagnosed with a rare disease is one you’ll never forget,” said Maddie’s dad, Patrick Sargent.
Sargent remembers that day, Jan. 2, 2020, when he and his wife learned Maddie had Angelman Syndrome.
Mom Laura Sargent, a pediatric nurse practitioner, said a diagnosis of Angelman Syndrome means Maddie is missing a certain gene.
“Maddie’s deletion causes her to have problems with motor planning,” she said. “The gene is very prevalent in the brain and it helps with speech, moving, walking (and) vision. Because Maddie is missing that gene, all of those things are just so much more difficult for her.”
Once the news of the diagnosis set in, the Sargents set out to do everything they could to help Maddie achieve all the things she can. They credit her development to the therapies she’s received at various centers in the Kansas City area.
Knowing not everyone may have access to the treatments they do, the Sargents want to create a scholarship so other families will have the same opportunities.
“I’ve met with other Angelman families locally and they are not aware of the different support systems out there or don’t have the means to get their children there,” said Laura Sargent.
To that end, the family created the nonprofit “The Miraculous Miss Maddie.”
Patrick Sargent said he knows too well the darkness that can overcome a parent after a child receives a rare disease diagnosis. They want to help bring light to those families.
Encouraged by learning about clinical trials and the things Maddie is accomplishing, Laura Sargent said the family has hope.
“The pathway to treatment is real so I hold onto that,” she said. “I don’t want Maddie to be cured because Maddie is Maddie… and Angelman’s is Maddie. But if I could get a treatment that would help her communicate that would be incredible. We know she’s thinking so much inside her beautiful brain.”
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