Krauter nonprofit aims to raise funds for research into rare genetic mutation
USD-415 teachers Brent and Kim Krauter are in the process of starting a non-profit organization to help families with children who have been diagnosed with the UBA5 gene mutation.
Madelyn Krauter, daughter of Brent and Kim, was diagnosed with the UBA5 genetic mutation, which is a rare disorder that causes dystonia - a state of abnormal muscle tone - and developmental delays both physically and cognitively.
The journey of Madelyn's life has been a long one for the Krauter family. When Madelyn was three months old, Brent and Kim started to notice that Madelyn's eyes were focusing in different directions and that her growing rate was delayed. After visits with their family physician, the Krauters visited Children’s Mercy in Kansas City.
Madelyn was diagnosed by the Undiagnosed Diseases Network in Nashville at the Vanderbilt University Research Center on July 6, 2017. At the time of her diagnosis she was found to be first case of the mutation found in the United States, one of only eight in the world.
The UBA5 gene mutation manifests many different symptoms. Some children have seizures, and others have cognitive and physical delays. For Madelyn, it is very difficult for her to move her muscles the way she should be able to at this stage in her development. She has to think long and hard about simple tasks, such as putting food in her mouth.
“She is rolling and sitting up, which started at about age three, but she has no other mode of independent mobility. She communicates in her own way through some sign language and facials, but has not said any words,” stated Kim.
The Krauters will use the non profit to help raise money for research into finding a cure for the disease. Currently the Krauters are working with Global Genes to help connect them with doctors and researchers, though they have not contacted any doctors or researchers yet. They have, however, identified a family in Topeka with a son who was diagnosed in September with the UBA5 gene mutation, who will be working alongside the Krauters to help establish their non-profit organization.
The Krauter family has already held several fundraisers for their non-profit, including an event held by the KAYS club at Hiawatha High School. Participants in the KAYS club sent around canisters during halftime of the girls basketball games on January 23 and January 25. The group ended up collecting $500.00 to contribute to the Krauter’s organization. A Premier Jewelry party was also held to raise funds for the organization. There is a 5k run/walk currently in planning that will be held at the Topeka Zoo.