KANSAS CITY, Mo. — Children’s Mercy Research Institute raises awareness as rare diseases impact families in the Kansas City metro.
A family in Mission Hills has made it their mission to help after their daughter was diagnosed with a rare disease.
Hattie Foster’s family tells FOX4 she’s 1 in 1,100 in the world who has this kind of rare disease. Her family has now dedicated their lives to raise awareness and bring about research to find a therapy and a cure.
The spunky 6-year-old lights up the world with a simple smile or wave. When she was 4, parents Michael and Melissa Foster say Hattie was diagnosed with a rare disease called SynGAP.
“Our geneticist didn’t know anything,” Melissa said. “He had never heard of it. He didn’t know anything about it.”
Melissa said the diagnosis brought a depression and sadness but also relief. They finally have a name to put on the challenges they face.
“She has some gastro issues, she doesn’t sleep very well,” her parents said. “Aggression, it’s hard to keep her down.”
Dr. Scott Perry says people with SynGAP often show intellectual and developmental delays, sleep issues, autism and epilepsy. He said Hattie was having multiple seizures a day.
“These abnormalities in the gene start to cause problems very early in life, and the sooner we can do something about the, the likely we’re able to prevent, you know, some of the learning problems,” Perry said.
The SynGAP Research Fund is a nonprofit that helps produce that science.
“We make sure they’re taking the right drugs, they’re talking to the right doctors and we just connect them to the community because raising these kids is hard,” said founder Mike Graglia. “Medically but it’s also hard on the hard and it’s much easier when you’re connected to the community of patients.”
The research fund also provided a support system for the Foster family. They encourage families to reach out. The journey is hard but it’s better together.
“There are other kids like Hattie,” Melissa said. “It’s a really special wonderful community.”
Brother Charlie loves his sister and can’t wait for the day she gets the relief she needs.
“If Hattie got a cure, I might as well call it the best day of my life,” he said.
“It would mean everything, getting a cure this disease,” Michael said. “If I took my last breath and we cured this disease, I would die a happy man.”