When Kernan Farrell started falling and losing developmental milestones shortly before her second birthday, her parents, Kristen and Jim, knew the cause right away. Like her older brother, Braeden, she was born with the gene for spinal muscular atrophy (SMA), a rare genetic condition that causes weakening muscles throughout the body. They had been watching and waiting, wondering if and when Kernan might start showing signs of the condition.
SMA is a difficult diagnosis, but the Farrells had hope. Working with Dr. Basil Darras, director of the SMA Program at Boston Children’s Hospital, they had enrolled 2-year-old Braeden in a clinical trial for a new medicine to treat SMA. It seemed to be helping with his symptoms. But because Kernan didn’t have symptoms when the trials were enrolling, she hadn’t been eligible. Once she started showing symptoms, the trials were closed.
“It was incredibly frustrating,” says Kristen. “We knew firsthand from Braeden’s experience what the medicine was capable of. But we had to wait for FDA approval to get it for Kernan.”
Watching and waiting
It was a difficult time for the Farrells. While Braeden was improving, Kernan began to lose skills.
“Every time she lost an ability, like stepping up or down off a curb or walking without assistance on uneven terrain, we wondered if she’d be able to regain that skill or strength,” says Kristen. “We knew that eventually she would get the medication, but the clock was ticking at every little milestone she lost.”
Then, on December 23, 2016, the medicine, named Spinraza, was approved by the FDA. The Farrells were overjoyed. Kernan was almost 4. In early January, they began the process to get the medicine for her and were met with another roadblock.
“Because Kernan had been diagnosed with type III SMA, the least severe type, our insurance initially denied payment for the medicine,” says Kristen. Not wanting to wait any longer for treatment for Kernan, Kristen began working on a series of appeals to have the medication covered. Finally, in March of 2017, Kernan was approved for treatment and received her first dose.
Seeing improvements on Spinraza
Like Braeden, Kernan has seen big improvements on the medication.
“Before starting the Spinraza, she was falling a lot,” says Kristen. “Now, she hardly ever falls and when she does, she seems surprised, because it happens so rarely.”
Kernan’s other motor skills are also improving. She can step on or off a curb now without holding someone’s hand and is working on running and jumping.
“Her running is like a really fast walk, but she keeps trying to improve,” says Kristen. “It seems like the Spinraza is helping, and if she stays on the medicine we hope she’ll continue to progress.”
Braeden has been taking Spinraza for four years and has also made advancements. Now 6, he uses a manual wheelchair to get around and can crawl independently. He also takes karate, using leg braces, and has earned an orange belt.
“Both kids are social and love hanging out with their friends and doing everything their friends do,” says Kristen. “They don’t want to be held back.”
Kristen and Jim are happy to support them in whatever they want to do.
Feeling lucky and grateful
“As much as it seems strange to say we’re so lucky, we’re so lucky,” says Kristen. “If our kids had been diagnosed even five years ago, there would have been nothing the doctors could do. We wouldn’t have had access to the medicines and clinical trials available now. We’re so grateful for that and for being so close to Boston for treatment.”
Learn more about the SMA Program.