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Life-Changing Neurodevelopment Care Helps Toddler Regain Strength

It was Christmas 2018, and Paislee was acting like any spirited tyke. The curly-haired toddler grabbed at the household furniture, pulling herself up and then swiftly shuffling in whatever direction had the most color and commotion.  

Weeks later, however, this little explorer couldn't walk or climb. She simply sat and slumped. She could not stand on her own, and many of her developmental milestones were lost.    

Paislee's Spinal Muscular Atrophy (SMA) Diagnosis

The abrupt change in physical ability alarmed Paislee's father, John Stahl, who was desperate for an explanation. The family was referred to Shaguna Mathur, M.D., a pediatric neurodevelopmental specialist at Boys Town National Research Hospital®. After a thorough neurological assessment and genetic testing, Dad finally had an answer. Paislee suffered from spinal muscular atrophy (SMA), type III.   

This rare neuromuscular disease causes muscle weakness and deterioration due to insufficient levels of a motor neuron protein. The protein is essential for muscle survival, and Paislee's body was not producing enough of the protein to keep her motor neurons healthy and functioning properly.


For those diagnosed with SMA, early intervention is vital to achieving the greatest long-term benefits. Dr. Mathur quickly placed Paislee on a treatment regimen that included Spinraza, the first FDA-approved therapy for treating SMA that can slow the disease's progression and improve muscle strength. 

“Without this medicine, children traditionally who had SMA would, unfortunately, have a very short lifespan," explained Dr. Mathur. “Urgency is key. This medicine is compatible with life, so the longer the delay, the harder it is for patients."

At Boys Town Hospital, Paislee underwent a lumbar puncture (spinal tap), a procedure where the medication was injected directly into her spinal fluid. The effects, according to John, were immediate and life altering.  

“There was a night and day improvement." John said with a smile. “She was standing and trying to move. She was bubbly. She was happy.  She had more strength in her legs."  

Paislee's treatment involved multiple injections of “loading doses," each administered several days apart, followed by maintenance doses every few months. She will need those the rest of her life. While there is currently no cure for SMA, new treatment advances continue to give children like Paislee more mobility and an enhanced quality of life.

“I'm overjoyed with her improvement," said Dr. Mathur. “She's a very bright girl with the cutest smile."

It's a new world for spinal muscular atrophy, according to Dr. Mathur, and Boys Town Pediatric Neurology offers many options and resources so families do not have to drive hours away or fly out of state for life-saving treatment.

As for the Stahl family, they're grateful for the tender care Paislee received and are optimistic she will have a bright, active future.        

“The improvements since we went to Boys Town have been absolutely amazing," said John. “Every time we're there, it feels like family. All the nurses are absolutely awesome. Dr. Mathur is an absolutely amazing doctor, and we're really lucky to be at Boys Town." 

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