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Growing up, Cathy didn’t get to meet her uncle, who was wheelchair-bound and ultimately died of complications from Duchenne muscular dystrophy, a genetic condition characterized by progressive muscle degeneration and weakness.
But being familiar with his story, when Cathy’s son, Kainen, turned three and was experiencing physical challenges, she started to suspect something might be wrong.
“We decided to get Kainen checked out because he was having frequent falls, and then the toe-walking,” Cathy recalls. “If you’re toe-walking, it’s something that’s probably going on with your legs.”
At the local children’s hospital, Kainen underwent testing showing abnormally high serum creatine phosphokinase, or CPK, levels. Cathy and her family then underwent genetic testing. That testing ultimately confirmed Kainen’s diagnosis with Duchenne muscular dystrophy, and that Cathy was also a genetic carrier for the condition.
Cathy’s husband, Marcus, recalls receiving the news about his son’s diagnosis as emotional and difficult.
“ It was actually a dramatic change from that moment forward because it was doctor’s visit after doctor’s visit. ‘He can’t do this. He can’t do that,’” says Marcus. “And you look at him and you’re like, ‘Man, this the life of the party, and you’re telling me he has this issue?’ So, it was hard to accept.”
Cathy and Marcus connected with CureDuchenne , a nonprofit organization committed to improving the lives of everyone affected by Duchenne through research, patient care and innovation. The family began attending meetings and connecting with others in the Duchenne community. That experience helped them learn more about how to manage Kainen’s condition and provided inspiration.
Looking ahead, Cathy and Marcus are hopeful that advancements in treatment and care for people living with Duchenne will help enable Kainen to accomplish more.
“I just want him to have this ability to walk and be mobile,” says Marcus. “To be able to shine his light, you know? Just continue to have that fire that he has in him.”
• Topics:
• Community
• Duchenne
• Patients
• Rare Disease