Table 3

Illustrative quotations

Inequities in access to disease-modifying therapies
Variable regulatory approvals across jurisdictionsThe care that she’s receiving is very different than the care she was receiving back home. Because back home, I would never even think that there would be a respirology complex care team. (SMA 3)
My husband was working for a company and they were opening a new store in the US. And we kind of did our research and one of the insurance companies… that was approving [onasemnogene abeparvovec] for their clients happened to be the same company that insured his company… So we applied for the transfer, and he applied for the position and got approved for it. And we went there, just like, took a chance, basically, we weren't sure if insurance would cover it, but we just, we thought we would go and try to fight for it… This is crazy, you know, but we were desperate. (SMA 15)
Prohibitively expensive therapiesWe tried to advocate ourselves by fundraising, everything for [onasemnogene abeparvovec), but we received the call that they were going to choose her for the lottery to receive it that way. (SMA 13)
Like I've said, I will do anything to get the treatment and said if I had to pay for something, I would have paid for it. Like I would even mortgage my house if I had to. (SMA 8)
Insufficient infrastructure to support rapid therapy deliveryWe know that literally every moment counts. If she were to have received [disease-modifying therapy] at birth, or had the newborn screening, like it would have made her life completely different. (SMA 13)
If a child were to come in that was in a car accident, and they could possibly lose the ability to walk if they didn't get treatment right away, they would rush them [into surgery] and make it happen. But for [my child], they just kind of like, pushed him to the side and was like “oh, he has to wait at the bottom of the list”. There wasn't any urgency towards it. (SMA 15)
Patient and family experience with disease-modifying therapies
Disease-modifying therapy decision makingWe just right away knew that we were going to give it to her, like we didn't think twice about [nusinersen] because it was going to save her life. (SMA 4)
We could go to Boston and be part of a clinical trial. Or we could stay here and get [nusinersen]… Our biggest [reason for not choosing the trial] was not knowing what his life would be like or life expectancy, we wanted to keep him as close to family, and here as we could. (SMA 5)
HopeI don't want to be in ICU anymore. So the care goal now for this year is one year without admission. (SMA 4)
I would love to see her walk, that would be a dream come true for me. But I also know and don't forget the reality of her condition. And all I can hope for is that her condition does not continue to deteriorate to the extent that I can't enjoy her milestones, that I can't enjoy my moments with her. (SMA 3)
Fear and uncertaintyWe don't know the future side effects of it. But honestly, I think that’s the last thing we think about because we know what she has and we know what could have killed her by maybe a few months after her diagnosis. (SMA 13)
So how long does [onasemnogene abeparvovec] last? Nobody knows. So every day I wake up, every day I wanna make sure he is still healthy. And that’s the feeling of fear because, maybe one day he’s gonna wake up and is not going to be able to move his arm or leg or something. (SMA 10)
What happens if the government suddenly just says your son’s not eligible for it anymore? (SMA 15)
This medicine is, the price is pretty high. And I don't know [how] the government can support this medicine… You know, maybe he got [to be] like, 20 to 22 years old, maybe he’s getting older…So yeah, we'd worry about that. (SMA 6)
I kind of questioned why we didn't get [noninvasive ventilation] sooner just for the fact of making her tolerate it when she was around six months. (SMA 13)