Son is proof of hope with Duchenne MD
Like most mothers, I only saw perfection when my first son was born. That quickly changed when we began to question pediatricians about his physical and cognitive delays.
Don’t worry, they said. Boys develop slower; they all catch up by 3.
However, by that time, Anthony still couldn’t climb stairs, fell often and barely spoke.
Finally, when we were approved for evaluation, we received a devastating diagnosis: Duchenne muscular dystrophy.
Duchenne is a rare, progressive disorder in which muscle cells are in a constant state of destruction.
The doctor estimated Anthony would need a wheelchair between ages 8 and 10, and his heart and lungs would give out between 12 and 20. There was nothing we could do, they said. We should just go home and love Anthony for the time we had.
I refused to follow those directions, even though zero Duchenne therapies existed.
And today, I’m still challenging passive norms.
With eight FDA-approved treatments commercially available and 39 more in the pipeline, families shouldn’t have to wait years for symptoms to show when a simple test could deliver a diagnosis and ensure optimal care from birth.
Arizona lawmakers, led by Sen. T.J. Shope, are actively reviewing Senate Bill 1020 to adopt statewide newborn screening for Duchenne. Once the bill passes the budget committee, it will head to the floor for a final vote.
I urge every member to quickly pass this legislation. There is no time to spare when a child’s freedom of mobility is wasting away. In DMD, time is muscle.
Our family lived the harrowing diagnostic odyssey firsthand: two years of appointments, three gene-sequencing tests and six doctors to finally get Anthony’s results. Doctors were often unsupportive when I uncovered and attempted to share information they didn’t know. Several dismissed me as just a “crazy” mom.
My desperation paid off in 2008 when Anthony became Patient No. 1 in the first trial for a Duchenne treatment. We considered ourselves the luckiest of the unlucky.
Most families didn’t (and still don’t) get a diagnosis until after age 5. Although we spent those years putting Anthony through surgeries, traveling back and forth to the clinical site, and missing school and work ... at least we had hope.
Every family that unwillingly joins our Duchenne community deserves the same.
Arizona tests newborns for 35 conditions on the Recommended Uniform Screening Panel from the U.S. Department of Health and Human Services.
Our state lawmakers have lifechanging power to add Duchenne to the routine testing every infant receives.
By pushing to discover DMD earlier than most, I had time to figure out how to still earn a living despite all the doctor visits and clinical trial travel. I had time to save for a handicap van, home modifications and all the durable medical equipment insurance doesn’t cover.
I had time to get emotional support so I could be healthy and strong enough to care for Anthony and his brother, Oliver.
With the benefit of newborn screening, the next generation of families will have even more time to evaluate, pursue and access FDA-approved Duchenne therapies while avoiding extensive surgeries, limitations and suffering.
Even though most new treatments won’t benefit Anthony, his early interventions did.
Today at 24, partly due to staying up on his feet until 14, there has been far less impact on his heart and lungs compared to what was originally projected. He has enjoyed many adventures and been encouraged to pursue his dreams.
And although he now has only limited use of his hands, the muscles DMD don’t impact are the ones he uses to smile.
Even though almost every daily living task — including showering, toileting, eating and even scratching an itch — requires help from family and caregivers, Anthony manages to seek joy every day.
Because of that, when I think about his sacrifices and our legacy efforts to improve Duchenne outcomes for other newborns and families in Arizona, I smile, too.