TGen’s Center for Rare Childhood Disorders Provides Hope for Arizona Families

Posted By on April 8, 2021

For the Groff family, answers were a long time coming. Kelly and Kevin Groff noticed something was not right with their son Kade when he was 6 months old. They went from doctor to doctor for years, searching for answers and coming to dead ends and misdiagnoses.

The Groffs arrived at TGen’s Center for Rare Childhood Disorders (the Center) when Kade was 5, desperate for help. TGen created the Center to apply advances in genomic testing to identify factors that cause rare disorders in children, who make up nearly half of all rare disease patients.

“The clinic and the center is really a place of last resort for families here in Arizona,” said the Center’s medical director Vinodh Narayanan, M.D. “Most of the families search for years for an answer, going from place to place without an understanding of what is wrong with their child.”

At the Center, Kade was diagnosed with Pontocerebellar hypoplasia Type I (PCHI), just the 41st person in the world to be diagnosed with the disorder.

Kade’s disorder is one of some 7,000 rare diseases affecting more than 25 million Americans. To address this challenge, TGen applies its cutting-edge advances in genomic medicine to help put physicians on the right track toward treating the most vulnerable among us.

“At the Center, we’re able to diagnose about 40 percent of our patients,” said Keri Ramsey, BSN, RN, the clinical co-director of Center. “Even though it might not lead immediately to a treatment, there’s a lot of power in attaching a name to their child’s disorder.”

The Groffs agree. “Once we received that diagnosis, it was really powerful and taught us that we needed to live in the present, and spend every single second enjoying this second,” Kevin said.

Rare diseases affect thousands of children in Arizona, and TGen’s Center is giving hope to children and families where there once was none. And importantly, patients and their families don’t pay a dime for the services the nonprofit Center provides.

While the journey continues and the challenges persist for 12-year-old Kade and his family, knowing his genetic diagnosis has made all the difference in the world.

To learn more about how TGen’s Center for Rare Childhood Disorders is giving hope to children and families, click here.

Karen Werner

About Karen Werner

Karen Werner is the editor of Frontdoors Media. She is a writer, editor and media consultant. She has interned at The New Yorker, worked at Parents Magazine, edited five books and founded several local magazines. Her work has appeared in Sunset, Mental Floss and the Saturday Evening Post.