TORRINGTON - When we first met Mel Kelly in February 2016, she had joined a national movement, asking the U.S. Food and Drug Administration to approve a drug that could potentially help her two sons, both suffering from Duchenne muscular dystrophy.
"It was a waiting game, not knowing," said Kelly, of the months that followed.
Then, a surprise announcement in September. Eteplirsen - now called Exondys51 - received "accelerated approval" from the FDA which is temporary.
"It was incredible, it was emotional," said Kelly.
The degenerative disease robs patients - mainly boys - of the ability to walk and sit-up. In small clinical trials, the experimental drug has shown promise in increasing muscle function and quality of life.
"If we can preserve function - even improve it slightly - it means everything to these guys," said Kelly.
Twenty-year-old Jacob and 16-year-old Liam got access to the drug in November and started getting weekly infusions - at home - one month later.
"Overall, it takes probably about two hours," said Kelly, noting that real progress could take a few months but the family believes they're already seeing changes. "Liam, the other day, reached both of his arms around my neck and grasped his hands and I can’t remember the last time he did that."
Some insurance companies aren't covering the cost of infusions for new, non-ambulatory patients over the age of 14. Each infusion costs thousands of dollars.
"It’s one of the top 5 most expensive drugs in the U.S. currently," said Kelly.
The family is covered - for now.
"We’re very happy we have it but we know there are other people who don’t have it and we’re concerned that could be us as well," said John, Mel's husband.
They believe "full approval" would ensure access to the drug for everyone. They will keep pushing...fighting...for their son's futures'.
"Finding a cure is the ultimate goal," said Mel.