World Med13l Syndrome Day is Friday
Madelynn Pritchett wasn’t hitting her milestones as a baby. She didn’t sit up. She didn’t roll over. She wouldn’t do things that babies normally do like putting things in her mouth.
But her great-grandmother Sue Ware thinks her great-granddaughter has come a long ways. “We think she’s pretty normal,” she said.
After a long and arduous process, Madelynn, now 5-years-old, was diagnosed with a rare condition, MED13L. The condition also known as hap lo insufficiency syndrome is caused by a defect in the MED13L gene.
Distinctive facial features, speech delays and intellectual disability lead to the diagnosis, but the diagnosis must be confirmed through genetic testing.
While MED13L is considered a genetic condition, Madelynn’s mother, Jill Pritchett, said neither her or Madelynn’s father carried the defect in their gene. “It just happens,” said Jill Pritchett about MED13L.
World MED13L Syndrome Day is Friday and the MED13L Foundation is working to find a cure. The goal is to raise $1 million this year and to raise $10,000 this month.
Madelynn was sick often as a baby, Jill said, and she had to go to the hospital twice. Madelynn was seeing a chiropractor every week and the chiropractor eventually suggested she be tested for MED13L.
Among the health issues Madelyn suffered from was curved feet, constipation and acid reflux. Shortly after the time she was born from 2017 through 2019 the series of test she went through and the number of doctors and agencies she saw seemed endless.
Among those who have helped with Madelynn include the Central Valley Regional Center and Valley Children’s Hospital.
Madelynn will be graduating from Jim Maples Academy’s special resources preschool program. She also attends Happy Hearts Day Care. Jill said they’re thankful for Jim Maples Academy and Happy Hearts for how they have helped with Madelynn’s development.
Madelynn will attend kindergarten in some kind of special education program in the fall. The obvious goal is for Madelynn to eventually attend school with the rest of the general school population. “That’s everyone’s goal is to get her as independent as possible,” Jill said.
Jill said Madelynn now tests at a developmental and intellectual level of a 1-2-year-old. “I think she’s higher,” Ware said.
And Madelynn does talk somewhat.
Those who want to make a donation to the MED13L Foundation can go to the following link: donorbox.org/curemed13l