My son has Duchenne muscular dystrophy. Baby screening is helpful

“You’re just an unlimited first time mom.” That’s what my pediatrician said when I raised my concerns about the delays in the gross motor for my 3-year-old son Garrett. If I hadn’t been a physical therapist, my concerns could have been dismissed and further delayed his catastrophic Duchenne muscular dystrophy diagnosis.

Duchenne is a fatal genetic disorder that causes progressive and irreversible muscle loss. Garrett’s diagnosis occurred early, but many families face years of uncertainty before learning about the illness that quietly deprives children of their ability to walk, move and breath. Duchenne children show no signs at birth, but a simple blood test with a daily heel stab wound on a newborn can detect it and give family answers from the start.

It’s easy isn’t it? Florida lawmakers should give every baby fighting now the chance now by handing House Bill 1089 to add Duchenne to Florida’s newborn screening panel. In the Duchenne community, we say “time is a muscle” to emphasize merciless progression. The Florida Legislature is on the watch for this session.

Despite the availability of FDA-approved screening tests and several treatment options for decades, the average age of diagnosis remains around 5 years old. Delayed diagnosis leads to years of missed intervention, unnecessary medical visits, and treatments that can unconsciously worsen the condition. The longer Duchenne is untreated, the more permanent the child loses muscle, reduces function and independence, and reduces the effectiveness of the treatment. Identifying Duchenne at birth will ensure immediate resources and support for families. Parents can make informed decisions about care, treatment and future plans.

Garrett began using scooters over long distances at age 7, and by age 12 he had lost the ability to walk completely. He has been using a wheelchair ever since. Now 18 years old, he cannot feed himself or perform his daily functions independently. If Garrett had access to the treatment and care available today at a younger age, his outcomes may have been different.

There are tools to detect Duchennes at birth, but Florida newborns are currently missing out. The House bill is currently in front of the Health and Human Services Committee, but it must clarify the House and Senate hurdles to become law. Five states, New York, Minnesota, Ohio, Massachusetts and Illinois, have already adopted Duchenne newborn screening. Florida should be next.

Screening of newborns is also cost-effective. Tests that cost a few dollars per baby can save families and healthcare systems with misdiagnosis, unnecessary treatment and delayed interventions.

Families need not resort to being lucky, a very active pediatrician, or physical therapist himself to reveal the diagnosis of Duchenne. House Building 1089 ensures that every child has the best opportunity to live mobile, independence and longevity. With several committee benchmarks ahead, Florida leaders must maintain momentum to pass the bill. Because time is muscle.

Amber Sapp, a resident of St. Petersburg, is the physical therapist and mother of 18-year-old Garrett, who lives with Duchenne muscular dystrophy.