New Treatments for SMA Offer Hope for Ava
Ava Jean Finelli, affectionately called “Jelly Bean,” was just a few months old when her parents started to notice something wasn’t quite right.
“She couldn't lift her head during tummy time, and she wasn't kicking her legs or moving her arms,” says her mom, Laura Finelli.
Ava’s pediatrician diagnosed her with hypotonia, often referred to as "floppy baby syndrome," meaning she had low muscle tone.
“We worried she was behind but figured she would eventually hit the expected milestones,” says Laura.
The doctor ordered more tests, but they all came back negative, so Ava was referred to a neuromuscular specialist. More tests soon revealed a debilitating genetic condition — spinal muscular atrophy (SMA) type I.
SMA is caused by a faulty gene critical to the function of the nerves that dictate muscle movement. Children with SMA have difficulty performing basic functions, such as swallowing and breathing. Usually, they do not survive beyond the age of two.
“We had never even heard of SMA,” says Laura. “Learning about it was like a grieving process. We had let go of what we thought our life would be and then accept this new way of life — this is our cool kid and we're going to figure it out.”
Hope in the form of a ‘miracle drug’ and bracing
Spinraza, a prescription medicine used to treat SMA, had just been approved by the Food and Drug Administration (FDA) in December 2016 — a first-of-its-kind treatment. Ava was born four months later. Laura calls it a “miracle drug.”
“The timing was incredible,” she says.
Shortly after Ava’s first Spinraza infusion, the muscles around her lungs were so weak she ended up in the hospital for two months fighting off a respiratory infection. From there, she was transferred to Children's Specialized Hospital in Mountainside, New Jersey, for rehabilitation therapy. Boston Orthotics & Prosthetics has a clinic located within the hospital, where Ava was referred for a soft spinal orthosis (SSO) and for ankle-foot orthoses (AFOs).
“With the SSO we are providing sitting and — eventually — standing posture support for Ava,” says her Boston O&P orthotist Daryl Fornuff. “And with AFOs we are working to control the position and motion of the ankle.”
Without treatment, children with SMA cannot sit independently, but with the help of Spinraza and extra support from her brace and orthoses, Ava began to hold her head up and sit up on her own with very little support.
“It was a huge accomplishment,” says Laura. “I’m so grateful to Daryl. We didn’t know anything about bracing, and he took the time to make sure we understood it.”
For the girl whose favorite song is itsy bitsy spider, who loves bouncing balloons and petting her dog Dempsey, the future is promising.
“We're really lucky she is the way she is, and that she was born at a time when we could get access to all of these incredible treatments,” says Laura.
Ava will continue to receive regular Spinraza infusions and visit Boston O&P for bracing improvements and adjustments. Just recently, she was fitted for a knee extender to prepare for standing.
“All the other two-year-olds are running around, but she doesn’t realize she’s different,” says Laura. “Our hope is that the treatments will allow her to grow, move, walk and eventually run.”