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.

• Transcript

  Paislee's Story: Pediatric Neurology - Boys Town National Research Hospital

  To see literally the next day, a night and day improvement, it was very relieving and it gave me hope and it's because of Boys Town that we have hope. The Christmas of 2018 she was like a year and a half. She was walking along furniture and then a couple months later she couldn't even stand up on her own. As she started to be able to do stuff and then started to go away, i'm like okay there's something really going on, so that's when we really tried really hard to get her in. When i did a thorough neurological assessment on her, spinal muscular atrophy was definitely high on my differential given her clinical picture, especially that motor decline. I did want to make sure we ruled out other neurological conditions. We did send for the genetic testing and it came back positive. The way the medicine works is it is given intrathecally, so we inject it through a lumbar puncture procedure and it goes into your body and helps upregulate the production of a specific protein, which is necessary for your muscles to survive. Without this medicine, children traditionally who had spinal muscular atrophy unfortunately would pass away and had a very short lifespan. Urgency is key. This medicine is basically compatible with life so the longer we delay the harder it will be for my patient. Right from the start when i submitted that approval to the board, they were they said no matter how expensive a medicine if it's helping a patient, we will we will obtain it. The next day was night day she was standing. She was trying to move. She was she actually had like, I'm not saying she didn't have a personality before but she was bubbly. She was she was happy you know. So and ever since then she's been that way and every time we go in for a dose it's better. Every time we go in for a dose she's got more strength in her legs. She still don't have reflexes um but you're doing a lot better huh. As far as prognosis goes, it's one day at a time probably looking at spinraza for the rest of her life. My goals are for her to be, live as normal life as she possibly can and enjoy the things that she has to do differently. I am overjoyed with her improvement. She's a very very bright girl and just the cutest smile. You don't need to fly out to other states. You don't need to drive several hours. We are a resource for these families, capable of providing many options, spinraza is certainly one that can help and is a fantastic medication, but newer medicines are also out on the market and are FDA approved. Newer forms of gene therapy that can also treat this condition, so it's a new world for spinal muscular atrophy. The improvements since we've went to boys town has been absolutely amazing. Every time we're there it really feels like a family feel to be honest. All the nurses are absolutely awesome. Dr. Mathur is an absolutely amazing doctor and we're really lucky to be at Boys Town.

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."