In 2017 Marissa (age 13) and Josiah (age 7) Graczyk were diagnosed with Friedreich’s Ataxia (FA), a rare, progressive, genetic disease for which there is no treatment or cure.
They are two of six siblings and live east of Kansas City on a small farm. Prior to diagnosis, their parents had no idea genetic disease was present in either side of the family. After 8 years of searching for answers for their daughter’s increasing clumsiness, the diagnosis of FA came as a shock. Friedreich’s Ataxia affects about 1/50,000 individuals. It is caused by a genetic mutation that leads to progressive loss of muscle coordination, slurred speech (loss of speech), scoliosis (often requiring surgery), extreme fatigue, and heart disease. Most individuals die by their mid-twenties of heart failure or other complications. Both children are currently under the care of neurology, cardiology, orthopedics and pulmonology. Marissa has begun heart disease and is increasingly reliant on her wheelchair. Josiah does not yet show signs of heart disease, but has become increasingly uncoordinated and falls often.
The disease is heartbreaking for the entire family, but thanks to the efforts of the Friedreich’s Ataxia Research Alliance and other rare disease research groups, like RareKC, there is hope for a treatment or cure.
Our family chooses to focus on making the most of each day; fighting for better treatment for those affected by rare disease; and looking forward to heaven when they can all run and not fall down.