Kansas City,
28
September
2018
|
04:41 PM
Europe/Amsterdam

Shawnee Mission Post: For local families coping with rare disease diagnoses, RareKC offers support, community

By Leah Wankum

Just looking at 5-year-old Ainsley Bridges from Westwood, one would never suspect she has any health complications. The friendly 5-year-old enjoys gymnastics, ballet and swimming.

Yet Ainsley lives with phenylketonuria, or PKU, a rare, genetic and lifelong disorder that causes brain damage if left untreated.

RareKC, a group that works to supports people diagnosed with rare diseases, says its inaugural "Reach for Rare" fundraiser will help raise awareness of the challenges faced by the Bridges and other metro families coping with a rare disease diagnosis. 

Rare diseases and disorders come in all forms and manifest in different ways. For example, Ainsley must follow a strict diet that limits her intake of phenylalanine, an amino acid mostly found in protein. PKU is caused by a defect in the gene that helps create the enzyme needed to break down phenylalanine. 

Mindy Bridges said she hopes Kansas City will become a center for treating rare diseases, citing new research facilities at Children’s Mercy Hospital.

“It just gives me hope that it will benefit not only my child and my family, selfishly, but the community,” she said.

 

Read the full story via the Shawnee Mission Post.

Learn more about the Children's Mercy Research Institute at Children's Mercy.