Imagine finding out that your child had a disorder that would interfere with walking, talking, and running. Imagine he or she would likely be in a wheelchair by his or her late teens. Imagine discovering that your kid, as a result of the disorder, would develop scoliosis, diabetes, and a heart condition that reduces average life expectancy to early adulthood.
This scenario is the reality for a personal friend of mine and leader of the legal community. Randy Juip and his wife Maureen do not have to imagine this situation. They’ve experienced it. Twice. Two of their five amazing kids are afflicted with a degenerative neuromuscular disorder called Friedreich’s Ataxia (FA).
As tomorrow is Friedreich’s Ataxia Awareness Day, we thought it paramount to highlight the Juips’ journey and their efforts to combat this disease.
Randy is a very involved man, not just with his family, but also with his community and his profession. He’s active in Scouting, serving as a Cub Master for four years. He served multiple years on the board of ABA TECHSHOW and is a member of the American Board of Trial Advocates (ABOTA), dedicated to preserving civility in the courtroom and preserving the 7th amendment.
The diagnosis for their son Jake was their first exposure to the disease. Initially, the Juips were trying to understand what appeared to be a problem with Jake’s coordination and motor skills. Jake talks about his odyssey and explains the mechanics of this disease in this amazing video:
Because of his work as a medical malpractice defense attorney in Detroit, Randy’s understanding of the intricate workings of this degenerative neuromuscular disease is sophisticated. Maureen, a chemical engineer and MBA, also understands Friedreich’s Ataxia (FA) on a deep level. As such, they are able to communicate effectively about FA and bring awareness to this rare disorder which affects 1 in 50,000 people.
I asked Randy what he wants people to know about FA and he said this:
“Friedreich’s Ataxia is something we don’t have a therapy or cure for right now, but we can and will cure it as long as the financial support and political will is there to support the current research being done.”
According to Randy, it’s a matter of time before a cure is found. “There are a bunch of different ways researchers are attacking FA,” he told me. “They are exploring ways to allow the body to better use the frataxin (a critical protein that FA sufferers have trouble expressing). They’re seeing how to make more frataxin, to add artificial frataxin, or make frataxin last longer. The end game would be gene therapy that would remove or silence the faulty section of the DNA that causes the disease.”
Since FA is a genetic disorder, Randy and Maureen had all of their children tested. Heartbreakingly, it turned out that their little girl Claire also has the disease. Like her brother, she made her own video, here:
As Randy said to his friends on Facebook, “We are committed to continuing to raise funds to support these incredible scientists and physicians in their efforts to #CureFA!”
“In the meantime, as before, life goes on. Although FA is a part of Jake’s—and now Claire’s—life, it will not define them or our family.”