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Patient March w/crayons

 Now a 3-year-old, March has no intention of slowing down.

 

PATIENT STORIES

Prenatal treatment for SMA gives March a clearer, brighter vision for the future

 
 
Patient March in chair

Prenatal treatment for spinal muscular atrophy gave March the opportunity at a full life.

As soon as March’s new glasses arrived, her parents, Wes and Kelly, knew she would be unstoppable. She wears them most of the time, but after a long day of being a 3-year-old, she whips them off in the car on the way home from school. March’s glasses are just one aid that has given her a clearer outlook on life. Before she was born, Wes and Kelly learned she would have type-1 spinal muscular atrophy (SMA), the most frequent and severe form of the disease.  

A consultation with Richard Finkel, MD, Director of the St. Jude Center for Experimental Neurotherapeutics (CENT) and world leader in neuromuscular disorders, gave them a new vision for their child’s future. SMA is caused by an error in the Survival Motor Neuron (SMN) protein, which leads to progressive muscle weakness and developmental delays. This was not the first time the family had received this diagnosis. Their son, Graham, had also been diagnosed with SMA and passed away from the disease in 2016. At that time, there was no direct way to treat SMA.  

“With Graham, we were used to educating the medical staff at our relatively small children’s hospital about SMA. But when we started talking to Dr. Finkel, we realized the SMA world had changed from 2016 to 2022,” Kelly said. “It was the first time someone told me something about SMA I didn’t already know.”

Dr. Finkel and the CENT team enrolled Kelly in a clinical trial on which she was the only patient. The goal was to treat SMA prenatally with the recently developed, but paradigm-shifting, drug risdiplam. Risdiplam is an oral drug taken daily that rewrites how the SMN protein is made, correcting its error and halting muscle atrophy. Six weeks after Kelly started treatment, March was born in August 2022, showing no signs of SMA.

 
 
Patient March at the beach

 Through each milestone, such as sitting up by herself, March continues to show no signs of SMA.

 

She has a few words but will definitely let you know what she wants. Sometimes she just wants to snuggle. She’s cute — dangerously cute!

Kelly, March's mom

 
 

From that day on, every milestone March hit, including sitting up, eating by herself, and even getting fitted for glasses, was a monumental achievement in her parents’ eyes. And with each new step comes a little bit more personality. “She is extremely social and loves being around people — smiling, waving, blowing kisses. She loves watching her big sisters play and gets so excited,” Kelly said. “She has a few words but will definitely let you know what she wants. Sometimes she just wants to snuggle. She’s cute — dangerously cute!”

Before therapies were introduced, SMA was generally fatal before the age of 2. However, through the efforts of Dr. Finkel, the St. Jude CENT clinic, March’s local care team, and Kelly and Wes themselves, the outlook for March is clearer and brighter; she shows no signs of slowing down. “Hitting 2 years old was a poignant milestone for us; she just kept going. Now she’s 3, and we are looking forward to more birthdays,” Wes said. “We knew it was unlikely Graham would make it to 2, and he didn’t. So, hitting that point with March was significant. Knowing that despite all the challenges, her future is so much brighter than it would have been five years ago.”

March and her family

March loves spending time with her family, especially playing with her two big sisters, Hogan and Pippa, pictured.

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