What are boys between the ages of 1 and 6 doing? Well, for a rare few, they have been diagnosed with Duchenne muscular dystrophy (also known as DMD).  Did you know that 90% of boys diagnosed with Duchenne are in wheelchairs by age 15? Even more surprising, according to recent studies of boys living with Duchenne, approximately 32% had attention-deficit/hyperactivity disorder (ADHD), 26% had learning difficulties, and 17-27% had an intellectual disability. In recognition of World Duchenne Awareness Day (WDAD) on September 7, we are shining a light on Duchenne and the correlation between this rare disease and the brain because it’s more than just muscles.

Duchenne, a genetic rare disease, causes progressive muscle degeneration and weakness due to a nonfunctional protein called dystrophin, which helps keep muscle cells intact. This is believed to affect the ability of neurons to connect and share information, which may also be linked to learning and behavioral difficulties.

“For some boys living with Duchenne, not having dystrophin in the brain makes it feel like their brain is being hijacked,” says Natalie Truba, PhD, Psychologist at Nationwide Children’s Hospital. “It’s harder for them to turn their brains off and shift their attention away from the source of over-stimulation. While further research is needed, this may support a potential link between Duchenne and neurodevelopmental disorders, like obsessive compulsive disorder, ADHD, autism and others.”

Research shows that adolescents with Duchenne may also be at an increased risk for depression and anxiety, especially if there is a decline in quality of life. The physical demands of the disease increase over time, resulting in chronic pain and fatigue in adolescence and adulthood.

Given the seen and unseen challenges that many boys living with Duchenne may face, it’s more important than ever that on WDAD and beyond, we continue to raise awareness of the signs and symptoms that could lead to earlier testing and diagnosis. Jake, a teenager living with Duchenne , epitomizes strength in his journey living with this disease. At just 8 years old, he was constantly falling and relied on his hands to lift his body off the floor. After visiting countless doctors, it was the expertise of a genetic specialist that finally led to his diagnosis. At Pfizer, we are committed to advocating for advanced research and efforts that could help young boys, like Jake, identify a diagnosis as early as possible.

It’s the stories of boys around the world living with Duchenne that inspire us to collaborate with advocacy organizations, HCPs, patients and their families to support the needs of the community and advance potentially transformative therapies for Duchenne. This WDAD, join us in raising awareness for Jake and others seeking strength and support. Together we are stronger and can encourage boys worldwide living with Duchenne to follow Jake’s motto, “live your life, not the diagnosis.”