Little Lilah Lamont can shake her head to say yes or no, raise her hands to inspect her latest manicure and offer a coy sideways grin when you tell her she’s pretty.
The 18-month-old Windsor tot has spinal muscular atrophy — SMA. As an infant, Lilah was as floppy as a rag doll, her body limp from the loss of nerve cells in her spinal cord and the resulting degeneration of her muscles. When Lilah was finally diagnosed at five months, after turning blue from lack of oxygen, doctors said she likely wouldn’t live to see her second birthday.
But thanks to a drug that received Health Canada approval this week, Lilah reaches new milestones every day as that landmark birthday approaches.
“She is doing absolutely amazing,” said Lilah’s mom and primary caregiver, Nicole. Lilah can move her arms and legs and grasp things. She has ripped out her feeding tube — not a good thing, but an accomplishment nonetheless — and has figured out that repeatedly clicking her tongue can make the alarm on her ventilator sound.
She can breathe on her own for up to 10 minutes at a time and enjoys time sitting up in an wheelchair or cuddled in her mother’s arms.
Lilah’s progress is credited to a drug called nusinersen, trademarked as Spinraza. It’s the first treatment for SMA to be approved in Canada.
Developed by Ionis Pharmaceuticals and licensed to Biogen Canada Ltd., Spinraza showed positive results in clinical studies involving more than 170 patients. It kept babies alive and allowed them to achieve milestones such as the ability to sit unassisted, stand or walk, Biogen said in a news release this week.
“Based on the robust efficacy and safety profile demonstrated in the clinical trials, we believe Spinraza will have a meaningful impact on individuals living with this devastating disease,” said Wildon Farwell, Biogen’s senior director of clinical development.
SMA affects one in 10,000 babies. One-fifth of the population is a genetic carrier.
Human studies began in 2011 and the drug got its first regulatory approval by the U.S. Food and Drug Administration in December.
Lilah was not part of a clinical trial but got what’s called “special access” to the drug, Nicole explained. She got the drug for free. Normally, it costs US$750,000 for the first year and $375,000 a year after that, Nicole said.
Lilah got her first dose in October. It’s administered by needle into her spine. At first, the shots came every 15 days, then every 30. Now, Lilah and her parents travel to London once every four months to see a neurologist and get another dose.
They spent 208 days in hospital last year, coming home just before Christmas. Dad Eric just returned to his job as a crane operator last month.
Nicole last worked as a personal trainer. Except for the six hours overnight when a nurse comes to relieve her, or evenings when Eric is home, Nicole is by Lilah’s bedside, suctioning her lungs through a tracheotomy tube and encouraging the little girl to move her muscles.
The living room of their home near the Devonwood Conservation Area looks like a hospital room. Lilah has a hospital crib, a couple ventilators, a suction machine, an oxygen machine, an oximeter to monitor oxygen saturation levels, a feeding pump and a machine to help Lilah cough. There’s also a backup generator in case of a power outage.
Lilah’s grandmother and aunt are trained on how to use all the equipment. They relieve Eric and Nicole so they can attend their son’s soccer games.
Carter, 8, who is away on a camping trip with his grandmother this week, dotes on his little sister. After school, he would run home and ask what new thing Lilah was able to do in his absence.
“Pretty much every day there’s something new,” Nicole said. “They’re little things, but they’re big things to us.”
Living now on a single salary after more than a year on employment insurance, the family has kept its gofundme page going. A walkathon organized by family and friends in April raised $8,000. There’s an upcoming pasta fundraiser Aug. 25 at the Moose Lodge.
Lilah also has a website, hopeforlilah.com.