Ever since Eli was a year old, his parents knew spine surgery was in his future. What they didn’t anticipate was that his rare neuromuscular disorder would worsen so quickly during adolescence that he’d need emergency surgery. Or, that it would happen during a global pandemic. Thankfully, the family from Rochester, NY, knew just where to turn for help: Children’s Hospital of Philadelphia.

Eli’s family first brought him to CHOP when he was a little over a year old. Doctors near his home in upstate New York were puzzled by his early symptoms: he had no muscle strength, his body was “floppy,” and he had trouble swallowing.

A barrage of tests ruled out spinal muscular atrophy (SMA) and Prader-Willi syndrome, leaving his doctors stumped. The family’s pediatrician suggested they seek help from one of the nation’s top children’s hospitals. After doing their own research and consulting with family members,  his parents, Michelle and Dave, decided to come to Children’s Hospital of Philadelphia (CHOP).

After reviewing Eli’s medical records and performing a muscle biopsy, CHOP doctors had the answer. Eli had nemaline myopathy, a rare congenital neuromuscular disorder that can cause a variety of symptoms, including muscle weakness, hypoventilation, swallowing dysfunction and impaired speech. Eli had them all.

While no specific treatment for nemaline myopathy exists, many of the condition’s side effects and related conditions can be treated. For example, many children – like Eli – later develop neuromuscular scoliosis, a sideways curvature of the spine. Neuromuscular scoliosis can limit a child’s movement and cause serious respiratory issues. Fortunately, surgical treatments are available to straighten the spine and support normal breathing.

Armed with a diagnosis, a basic understanding of their son’s condition and referrals to early intervention services, the family returned home to New York.

Exploring treatment options

As Eli grew, he continued regular check-ups with an orthopedic physician in Rochester, and his family kept in touch with CHOP every few years. Eli’s neuromuscular scoliosis slowly worsened as he grew. By age 10, he had severe muscle weakness, a spinal curve of 80 degrees and needed a wheelchair to get around.

Doctors in New York suggested it was time to consider spinal fusion, a surgery that would permanently straighten Eli’s spine, yet prevent future growth.

His parents had other ideas. They felt Eli was too young for a spinal fusion and at less than 4 feet tall, he still had lots of room to grow. They wanted to investigate treatments that could halt his spine curvature, yet still allow him to safely grow.

After researching the latest treatments for neuromuscular scoliosis, Eli’s parents wanted to explore MAGEC™ growing rods as a possible treatment for Eli. Like traditional growing rods, MAGEC rods are surgically implanted, but do not require repeated surgeries to match a child’s growth. Instead, the MAGEC rods are lengthened non-invasively by powerful magnets outside the body.

Eli’s orthopedic doctors in New York didn’t have experience working with MAGEC rods, so the family again turned to CHOP for help. The family first talked with Maribeth Magarity, MSN, RN, nurse navigator in the Orthopedic Center.

Worsening spinal curve, then COVID delay

Magarity helped Eli’s family schedule their first visit to CHOP in March 2020, to meet with Keith D. Baldwin, MD, MPH, MSPT, an orthopedic surgeon at CHOP with expertise treating neuromuscular conditions. Unfortunately, a recent growth spurt meant Eli’s spinal curve had worsened to 90 degrees and was climbing. Dr. Baldwin cautioned the family that something needed to be done – and soon.

Dr. Baldwin agreed MAGEC rods might work well for Eli, and brought in a colleague, Patrick J. Cahill, MD, Director of the Wyss/Campbell Center for Thoracic Insufficiency Syndrome (CTIS), who has worked extensively with the new technology. The family was scheduled to see Dr. Cahill for a more extensive work-up a few weeks later.

Then COVID-19 struck, and all but the most essential services at CHOP were delayed.

Coming back during COVID

In June 2020, Susanne Manzoni, BSN, RN, nurse program manager, and Mary Ovelman, BSN, RN, RRT, nurse navigator, both with the CTIS, reached out to Eli’s family to reschedule his delayed appointment from April. They also requested updated imaging of Eli’s spine.

When Dr. Cahill examined Eli, he agreed MAGEC rods would offer Eli the best overall outcome based on his unique health issues. The procedure would repair his spine – while allowing him to continue growing – and would limit the number of invasive procedures Eli would need, unlike traditional growing rods.

Dr. Cahill agreed with Dr. Baldwin’s assessment from months before – Eli needed surgery ASAP. With each passing month, Eli’s condition became progressively more dire – affecting not only his spine, but also his breathing, lung volume and growth.

Thankfully, Dr. Cahill had a cancellation in his surgical schedule the following week and Eli’s surgery was scheduled.

The next week was a whirlwind of activity as Manzoni and Ovelman scheduled a slew of additional tests that doctors needed before they could safely operate on Eli: a complete spine MRI, an echocardiogram of his heart, an abdominal ultrasound and a COVID-19 test.

“Our experience at CHOP was amazing,” Michelle says. “Everyone on Eli’s team knew where we needed to go next and what tests were being performed. They scheduled everything for us; we didn’t have to worry about anything delaying his treatment.”

Eli’s parents were nervous about the surgery and being at the hospital during COVID-19, but said they were comforted by the many safety protocols in place at CHOP, including that Eli could have a private room during his hospital stay.

Surgery & recovery after MAGEC rod placement

On June 30, 2020, Dr. Cahill operated on Eli, placed two MAGEC rods (one on each side of the spine), and attached the rods to Eli’s rib cage and pelvis. The surgery immediately straightened his spine and added a few inches to his height. Eli recovered at the hospital for a few days before being discharged on July 4 – “Eli’s Independence Day,” as his mom calls it – and returning home.

Over the following months, Eli’s parents worked with him to build his strength and flexibility. Progress was slow, but steady as Eli strived to gain greater independence.

In October, Eli returned to CHOP to have the MAGEC rods lengthened – a quick and painless outpatient appointment – and will be back in May 2021 for another minimally-invasive adjustment.

Eli’s family has had such a positive experience at CHOP that they have transferred his care here for a number of other medical conditions he has, including craniofacial, dental, hip and movement issues.

“The team at CHOP – from the doctors and nurses to the secretaries and assistants – have been incredible to work with,” Michelle says. “It’s well worth the commute from Rochester.”

Planning a future at NASA

Eli attended sixth grade virtually this year, but he hopes to resume in-person classes in the fall. He’ll be starting middle school and is looking forward to meeting new friends and exploring new subjects.

“This year has been a challenge for all of us, but Eli has really stepped up,” Michelle says. “His intellect and personality shine through, even in his online classes. Eli is in advanced classes, loves math and science, and wants to work for NASA one day.”

Michelle and Dave have every confidence Eli will achieve his dreams, due in part because of how well he’s responded to both his condition and treatment.

“Eli has always been very comfortable sharing his opinion and we’ve encouraged him to have a real voice in decisions about his own health and treatment,” Michelle says. Eli’s medical team has been supportive of Eli’s autonomy, taking time to answer his questions and address any of his concerns.

“Eli is very much part of the conversations about his health and CHOP has always recognized that,” Michelle says. “It one of the reasons we love CHOP so much. Eli is treated as a person – not a diagnosis.”