06/29/2024
WHAT IS DUCHENNE?
Will (and our family) first heard of Duchenne Muscular Dystrophy when he was diagnosed at 2 years old. And while we have been living with it for a while, you might not be familiar with it or forgot what the diagnosis was and feel weird asking. So here it goes...
Duchenne is a progressive neuromuscular disorder that causes a loss of motor, pulmonary, and cardiac function. It is caused by a mutation in the gene that makes dystrophin, a lubricating protein supports muscle fiber strength. When dystrophin is missing in the body, muscle cells are easily damaged, which causes progressive muscle weakness in the entire body.
Muscle loss in Duchenne first starts to be noticed in childhood, with loss of strength, function, and flexibility in the hips, thighs, shoulders, and pelvis. In the teens, these losses begin progressing to the arms, lower legs, and trunk. Because there is also an absence of dystrophin in the muscles of the heart and lungs, heart function and breathing are also affected. In addition, some people can have issues with learning and behavior, resulting from a lack of dystrophin in the brain.
Support our efforts to get Will a safe and reliable wheelchair accessible van. All donations are tax-deductible and will be matched up to $37,500 by the Jett Foundation's Accessible Vehicle Fund. You can donate here:
https://www.jettfoundation.org/fund-recipient/barkoskie-family?fbclid=IwZXh0bgNhZW0CMTAAAR0lJrQKAriDjYwmjK2QpyzlGz-aUtboMkcbD4gj0mROr85jgh0t6gELAzw_aem_AftmyFQ6D_eAavS-uDobxDOjHOwYkSfdrsf8RlzIUN97abmzr00Yx4ICDoxic6TWWVhTtM_YgGIT3M_X9SG7DGX_
