BLAINE, Minn. — Maddy Smith couldn’t even crawl on her second birthday. Six months later, thanks to a $2 million gene therapy treatment, she is walking. Her success is helping other kids get approved for the same drug.
“This is a miracle,” said Maddy’s mother Angie Bruce. “I’m ecstatic. I’m so happy and thankful.”
Maddy was born with Spinal Muscular Atrophy, known as SMA. It’s a genetic disorder than can be fatal in the most serious cases. In others it prevents children from walking, holding their heads up, clearing their airways and swallowing.
A controversial new gene therapy named Zolgensma approved this spring by the FDA promised to change that devastating prognosis. The one-time infusion costs $2 million dollars and is known as the world’s most expensive drug. It is only approved for children up to the age of two.
Maddy received the Zolgensma infusion one day before her second birthday – the culmination of a weeks long fight to get the medication covered. Maddy is insured through the State of Minnesota which had initially denied the treatment.
“There were a lot of sleepless nights fighting for her. Fighting for this,” Angie said.
KARE 11 followed her journey.
At the time of her treatment, Maddy could only scoot. She was non-verbal and could not eat solid food.
In late January, her mother Angie called KARE 11 to share an important milestone. Maddy had taken her first steps.
Maddy laughed and squealed as she walked around their home, falling at times, but hopping right back up.
“It’s just pure happiness,” said Maddy’s doctor. Dr Peter Karachunski with U of M Masonic Children’s Hospital says her progress has exceeded all expectations. After treating children with SMA for years, he never thought he’d see a cure.
“To see someone with improvement, such dramatic improvement, essential normal milestones is certainly very impressive,” he told KARE 11.
Karachunski said since Maddy was approved for Zolgensma at least 6 to 8 more Minnesota kids have received the therapy, some covered by the state, others by private insurance.
Maddy’s success, Karachunski said, makes it easier for other families to convince insurers to pay.
What’s next? Since Maddy is one of the first children in the world to receive Zolgensma no one can say for sure. But her doctor believes it’s entirely possible she will run, jump and have muscle tone just like any other kid.
For her family, each of those milestones will be an unexpected gift.
"People everywhere are celebrating with us and everyone who fought for her to get Zolgensma, this is this is what it does. This is what they gave her,” Angie said.