Claire made her entrance to the world six weeks before her due date. Despite being premature, she steadily gained weight after coming home — so much so that strangers would stop her mother, Amy, on the street to marvel at her adorable chubby-cheeked baby.
But as the months passed, Claire started missing milestones. Amy noticed that Claire couldn’t support her weight when held in a standing position. When other babies her age were able to get into a crawling stance, Claire wasn’t able to lift herself off her belly. And while she was at first able to hold up her head from that position, she lost that ability over time.
At first, her pediatrician chalked it up to her prematurity and weight, thinking she needed time to build strength. But by the time she was a year old, it was clear that something wasn’t right.
A spinal muscular atrophy diagnosis
The family was referred to the Division of Neurology at Children’s Hospital of Philadelphia, where pediatric neurologist John Brandsema, MD, diagnosed Claire with Type II spinal muscular atrophy (SMA).
Spinal muscular atrophy is a genetic disease that affects the spinal cord and nerves, resulting in muscle wasting and weakness. Claire’s body did not produce enough of survival motor neuron (SMN) protein, essential to keep her motor neurons functioning normally. Children with Type II SMA typically have progressive generalized muscle weakness and require braces and a wheelchair.
At the time of Claire’s diagnosis, Dr. Brandsema mentioned that the medical community was awaiting FDA approval of a new drug, nusinersen, as results from an ongoing research study were promising. Marketed under the brand name, Spinraza®, it increases the body’s production of SMN protein. News of the medication gave Amy hope, but she knew it would likely be a long wait before it would become available.
Because swallowing and breathing muscles can be affected, one of the most important parts of treatment for SMA is to closely monitor for any breathing and feeding problems. At the time, Claire did not require any immediate care for those issues, so CHOP’s specialized Neuromuscular Program team worked with Amy to create a plan to manage Claire’s symptoms and maximize function at home. This included respiratory surveillance with Dr. O. Henry “Hank” Mayer of CHOP’s Division of Pulmonary Medicine.
Amy took her baby home, just a 15-minute drive from CHOP, and started Claire on physical and occupational therapy five days a week through the state’s early intervention program and privately. She bookmarked the pharmaceutical company’s FDA approval webpage and checked morning and night to see whether the drug had been approved.
Meanwhile, Claire was regressing. She lost her ability to roll over and was no longer able to sit without collapsing into a hunched position. If her head dropped while strapped into her highchair, she wasn’t able to lift it back up. Claire understood language, but because it was difficult for her to hold breath in her lungs, she wasn’t able to speak more than a single syllable.
Three weeks after Claire turned 2, Amy got the news she was waiting for. The FDA approved Spinraza.
Another two months went by as Claire underwent prescreening for safe dosing and coverage for the treatment was approved. On February 27, 2017, they traveled to CHOP for Claire’s first dose of Spinraza. The drug is injected directly into the fluid surrounding the spine, a procedure called a lumbar puncture that required Claire to be sedated for her comfort and safety during the dosing.
That night back at home in the kitchen, Claire said her first two-syllable word: “Mama.”
“I dropped the ham I was holding,” Amy remembers.
Over the next two months, Claire had three more doses of Spinraza during the “loading phase” of treatment. Now Claire returns to CHOP for outpatient visits to receive maintenance doses every four months. While the medicine is not a cure and does not work for all patients, it has halted Claire’s decline and given her a new baseline from which to build her strength.
Amy devotes her days to overseeing her daughter’s physical therapy with the goal being that she will one day be able to use a walker or crutches to take steps independently.
Today, Claire is 3 years old and a chatterbox, according to her mother. She can yell and sing, roll, scoot, stand in ankle orthotics and fully bear her own weight. Claire is also able to swim under water and push herself in a manual wheelchair.
“This is the same girl who, a year ago, couldn’t reach her mouth to feed herself,” Amy says.