by: Parent Project Muscular Dystrophy
There is nothing ordinary about Duchenne. We all know that. Our Duchenne story started in the ER. At two years old, my middle son was involved in a serious accident and went into cardiac arrest. While in the hospital he exhibited elevated liver enzymes. After several tests and subsequent doctor visits, we were given a Duchenne diagnosis. An extraordinary way for Duchenne to enter our lives, and nothing for which we’d ever thought we’d need to plan.
My heart sank. We did not have a family history of Duchenne and I had an older son who was active and healthy. Then I had my younger son tested, and he was diagnosed with Duchenne as well. In a matter of months, our lives changed forever. As we embarked on this journey, we scoured all the resources we could find.
We found PPMD, and we began to feel hopeful as we learned about clinical trials and the promise of Gene Therapy for our boys. We want to do as much as we can, as soon as possible to seize the potential that exists with Gene Therapies for Duchenne.
We started our foundation to raise funds for Gene Therapy research. We feel that the therapeutic potential of Gene Therapy will give our boys the greatest chance at maintaining their quality of life. We understand this isn’t a magic wand, but if it extends the function and quality of their lives — walking, playing, eating independently or helps them experience greater fulfillment, then that’s the magic to us.
Our biggest frustration has been learning that our boys, like many others, don’t yet qualify for a trial, their trajectory too predictable… their assessments possibly too “good” to show the impact of an experimental drug. We continue to support PPMD’s fight to overcome obstacles like the ones we face, until Gene Therapy becomes an option for everyone who needs it.
As we heard during this week’s webinar with Drs. Nagaraju and Sheih, the challenges before our community are significant, but not insurmountable. From those who cannot yet participate due to neutralizing antibodies, to durability of treatment and accessibility for older or non-ambulatory people with Duchenne, there are many questions to answer.
PPMD will continue to bring together experts in the field to find possible solutions and move critical research forward to provide answers to these questions and eventually, provide Gene Therapy access for all individuals with Duchenne.
I hope you will join my family and invest in PPMD’s Gene Therapy Initiative, with a gift today. While the future of life with Duchenne feels like the great unknown, I trust that PPMD will lead us to extraordinary solutions.
With hope for all families with Duchenne,
Alison Joseph, Parent
PS. Have your gift matched today. Turn obstacles into opportunities.
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