From Diagnosis to Surgery: How Pediatric Orthopedic Expertise Helped Amelia Thrive with SMA

Amelia, the third of eight children, had been meeting early milestones—sitting, crawling, even taking supported steps around 11 months. But around her first birthday, Mom noticed subtle changes in Amelia:

• Frequent constipation 
• Sleeping in unusual positions
• Changes in muscle tone 

A visit to their local emergency department raised concerns, but no real answers. The next day, her pediatrician identified a critical sign: loss of reflexes—and immediately referred Amelia to Connecticut Children’s Medical Center in Hartford.

A Clear Diagnosis at Connecticut Children’s

At Connecticut Children’s, Amelia met many pediatric specialists, who helped her through many tests, including neurological exams and bloodwork. Within a week, her family had answers: spinal muscular atrophy (SMA), condition that affects the nerves that control muscles, making it harder for kids to move and stay strong as they grow.

“That was the moment everything changed,” says Amber. “But we also felt relief knowing we were finally in the right place.”

Connecticut Children’s became Amelia’s home away from home—bringing together specialists experienced in diagnosing and treating rare pediatric neuromuscular conditions.
 

Amelia’s early care focused on maximizing strength, stability, and development. Her care team included:

• Pediatric Neurology (ongoing SMA management) 
• Physical and Occupational Therapy   
• Gastroenterology (for SMA-related digestive challenges) 

She also participated in a clinical trial for a drug that is now the first-ever FDA approved medication for SMA. The trial lasted five years—and now that the drug is FDA approved, Amelia’s still going strong with it! 

“I knew in my heart Amelia wasn’t getting the placebo. We started to see changes over time,” Amber says. “She was stronger. She had more control. That gave us hope.”
 

When SMA Leads to Scoliosis

As Amelia grew, her condition led to neuromuscular scoliosis, a common complication of SMA that causes the spine to curve as muscles weaken.

“She started leaning more to one side,” Amber explains. “You could see her body working harder just to stay upright.”

At this stage, her care expanded to include pediatric orthopedic specialists at Connecticut Children’s.
 

Amelia began long-term care with Mark Lee, MD, Division Head of Orthopedics, who closely monitored her growth and spinal curvature over time.

Unlike adult orthopedic care, pediatric specialists are trained to treat growing bones and complex neurological conditions like SMA, making sure care plans grow with the child.
 

Advanced Pediatric Spine Surgery at Connecticut Children’s

In February of 2026, Amelia underwent posterior spinal fusion surgery with John Stelzer, MD, pediatric orthopedic and spine surgeon at Connecticut Children’s.
This type of surgery requires:

• Expertise in pediatric spinal deformity 
• Careful coordination across multiple pediatric specialties at Connecticut Children’s
• Experience managing medically complex kids 

Neuromuscular scoliosis surgery is highly specialized. At Connecticut Children’s, we take a whole team approach to ensure each child receives the best care and outcomes possible.

"Amelia's scoliosis had progressed to the point where it was affecting her overall alignment and compressing part of her chest. By straightening and stabilizing her spine, we were able to improve her posture, sitting balance, and create more space for her chest wall. We're extremely pleased with her correction and, most importantly, with how well she's doing today," said Dr. Stelzer. 

Before surgery, Amelia struggled with:

• Significant curving of the spine
• Poor sitting balance 
• Increased physical strain 

After surgery, the difference was immediate.

“She grew taller and was straighter right away,” Amber says. “Not just how she looked—but how she felt.”

Today, Amelia has:

• Improved spinal alignment 
• Better balance and positioning 
• Greater comfort in daily life 
   

Amelia’s journey highlights what sets Connecticut Children’s apart:

• Expertise in pediatric orthopedics and spine surgery 
• Specialized care for rare, neuromuscular conditions like SMA 
• Collaboration across many specialties for medically complex children
• A coordinated, family-centered approach 

Her ongoing care continues to include:

• Orthopedics 
• Neurology 
• Gastroenterology 
• Rehabilitation services 

Looking Ahead

Despite everything she’s faced, Amelia’s personality shines through.

“She’s outgoing, funny, and strong,” Amber says. “This doesn’t define her.”

For her family, the difference is clear.

“We’ve been through so much,” Amber reflects. “But having a team that truly understands her—and knows how to care for her—that’s everything.”