Introduction
Method
Recruitment
Parent/caregivera (or study participant if ≥ 18 years of age at the time of enrollment in our study) | & |
Fluent in English (including non-native English speakers) | & |
Able to give informed consent | & |
With a confirmed diagnosis of ASMD | & |
Used the experimental drug olipudase alfa for more than 12 months | & |
Commenced treatment with olipudase alfa under the age of 18 years | & |
Consented to participate in the study |
Study design
Data analysis
Results
Participant characteristics
Overarching themes
Fatigue
Before treatment:“…And as time passed by, we noticed that her energy level decreased, and when she got home from school, she asked us to go to bed.[…] And we also noticed that if she had to walk a certain distance, that it was difficult for her to catch up with the other children because she was always tired.”After treatment:“Also, the energy, she is really full of energy now. It’s amazing. She’s very active and she likes to do sports, […] Now she’s really an early bird, she’s awake very early, and it’s not a problem for her to handle these long schooldays anymore.”Interview, started treatment at 4 years of age, 3 years and 6 months on treatment
Abdominal pain and organ enlargement
Before treatment:“But his organs, his belly was becoming increasingly more distended before the ERT […]. He was hooked up to feeding pumps because the pressure that was being put on his stomach, he was only able to tolerate small volumes at a time. He was on continuous feed, so he had a feeding pump hooked up to him all the time, and oxygen hooked up to him. It’s just a lot of stuff for a little kid to deal with.”Interview, started treatment at 2 years of ageBefore treatment:“…she complained about pain in the belly. So, that’s very difficult for us to exactly understand what it is that she feels, but I remember that every day she said, yes, my belly hurts, I have pain. Maybe it was the organs that were very dense. I don’t know. It was also difficult for her to exactly indicate where it was, but every day she told us that she was having pain in the belly.”After treatment:“Also, the pain in the belly is completely gone, I think it’s due to the organs that went to normal size again, and that is also supported by what the doctors tell us.”Interview, diagnosed at 2 years of age, started treatment at 4 years of age, 3 years and 6 months on treatment
Nausea and vomiting
Before treatment:“Ninety percent of his calories came from a PediaSure or like a very thick liquid that he drank with a little bit of food on the side of that……It would be every third or fourth day he could have a vomiting episode, it just seemed like he would get backed up or too big a bite, something would cause the gag reflex in him.”After treatment:“About six months into treatment… We’d started watching him wolf down food and we were just ready for him to gag…All of a sudden, he’s just taking orange slices like nothing. And I think I just remember … holy cow, he’s just like downing food. And so, all of a sudden, he could eat no problem, everything and anything. We slowly phased out the fortified drink, it was probably decrease, decrease, decrease, it took a year.”Interview, started treatment at 6 years of ageBefore treatment“He would eat a full meal and he would eat a lot. And then after he was finished eating, he would throw up, which it makes sense now, with everything being so enlarged. But yes, so he would eat. And that’s why I didn’t understand why he wasn’t gaining weight. Because he would eat a lot and then he would throw up, not at the end of every meal, but enough to make you wonder, why is this happening?”Interview, before treatment, started treatment at 1.5 years of age
Growth delay
“Before beginning the drug, he was I think in the 15th percentile of his age for height and weight. He is now, I believe, in the 85th to… I think it’s the 85th percentile. But he has a head full of hair. He is over three feet tall. He is weighing about 40 lbs. He’s a little skinny but he’s tall.”Interview, started treatment at 1.5 years of age, 3 years and 10 months on treatment“He has grown a ton. He went from not being on the growth chart at all, to he’s now at the 50th percentile for weight and height. So, he grew a lot, put on a lot of weight, and he’s a healthy size now.[…] His body is just absorbing nutrients a lot better now.”Interview, started treatment at 2 years of age, 1 year and 3 months on treatment
Mental health impacts
“It is heart-breaking to watch your child go through everything that he’s been going through. Really, it puts a lot of stress on us as parents, but also me and my husband’s relationship, and it affects all aspects of our lives. Before his infusions and stuff, he required so much care.” Interview, before treatment, started treatment at 2 years of age“I think you think of them every day and you think of them every night. You wake up thinking about it. That takes over your life, how am I going to normalize my child’s life? How is she going to be able to live normal and not be constantly sick and in the hospital?” Interview, before treatment, started treatment at 7 years of age
“Extreme anxiety, extreme depression on my end, a lot of frustration. My husband and I, you go from living this typical life essentially to being thrown with a potentially life-threatening diagnosis of your child.”Interview, before treatment, started treatment at 3 years of age
“It was dark times. We questioned and felt a lot of guilt and questioned did we do the right thing looking to have kids? Should we have done more genetic testing? Were we selfish to think that we thought we didn’t have these mutated genes in our cells? There was a lot of stress for us as parents just knowing that we brought kids into this world who were going to have an uphill battle.”Interview, before treatment, started treatment at 2 years of age
Emotional exhaustion
“We already thought that he was on borrowed time, but I think there’s emotional exhaustion that you don’t even notice, you’re just kind of waiting for the ball to drop sort of, like the whole time you’re just waiting for him to lose an ability. […] you’re always looking for the regression.”Interview, before treatment, started treatment at 6 years of age“I can’t even tell you how mentally exhausting it is to clean up vomit so many times a day. It just wears on you, not even physically, but emotionally it’s really hard to just watch your child constantly throwing up, and just looking like they feel awful.”Interview, before treatment, started treatment at 2 years of age
“We counselled ourselves, looking back on it, I wish we did [attend support groups or counselling]. But we were grinding, we were trying to maintain our jobs and we were trying to raise our other kid. And we didn’t cut out time for ourselves. But luckily, we were able to get through that. And my wife and I grew stronger as a team in that sense. I’m fortunate of that because it very easily could have gone another direction. We were so caught up in the grind of life and trying to do everything for our kids that we did not focus on ourselves.”Interview, before treatment, started treatment at 2 years of age
“At that point we really couldn’t leave [Name] with anyone but one of us. Both of our parents live close by, and they’re always willing and wanting to help, but there’s only so much they can do and so much that they’re comfortable with doing, just because of his health needs. Especially back then, we would always be scared if he was going to throw up and we’re not there, and what if he choked on it?”Interview, before treatment, started treatment at 2 years of age“We didn’t trust anybody to babysit her, we didn’t want anybody handling her even. She felt like almost like a fragile sheet of glass after she was diagnosed.”Interview, before treatment, started treatment at 3 years of age
“We kind of breathed again. Before you just felt... so fearful to look forward to the future. Now we just, it’s hard to describe without getting emotional. Everything has just changed. It’s completely changed. We’re able to breathe again, we’re able to have hope again, we love sharing about it.[…] Our anxiety level has reduced tremendously; our depression has lifted.”Interview, started treatment at 3 years of age, 4 years and 11 months on treatment“And there’re also feeding pumps that are going off at night, and him waking up constantly, not sleeping well. Like you said, then we’re waking up constantly, and having to get up and clean up puke in the middle of the night, and then change bedsheets. It’s a lot. So, it’s definitely improved our sleep, too, our sleep habits, which is vital to your mental health.” Interview, started treatment at 2 years of age, 1 year and 3 months on treatment“So, everything’s lifted in that sense that we’re thrilled knowing that our kids, during these prime years of the ages that they’re at, they’re able to do what any other kid is doing right now, and that means everything to us.”Interview, started treatment at 2 years of age, 6 years and 1 month on treatment
“I've made a complete 180 now. I think she can be whatever she wants to be as long as she puts her mind to it. Everything’s opened up, and she wouldn't have had those opportunities if she hadn't been in the treatment.”Interview, 5 years and 9 months on treatment“We feel optimistic, we feel like we look forward to seeing the future. Where before we didn’t even think about the future, we didn’t think about what ifs, we didn’t think about what could be. And it’s amazing because [name] all she talks about is wanting to be a doctor because of all her experiences. So to see a child that was forced into a world of medical-ness as a necessary situation to now say that she knows that she wants to do the same thing to help little people like her.”Interview, 4 years and 11 months on treatment
“The hardest part of everything is the strict rules of the trial. The trial itself was the harder part than the drug itself. That is what caused the majority of the stress, getting the MRIs, getting the ultrasounds. And even something as little as them being done with their infusion and then having to wait an hour to get their vitals done, that hour time frame, that’s always been the hardest thing out there. Because the kids are done, they want to be up and go round. It’s just that extra hour after a four-and-a-half-hour infusion just adds to the point.”Interview, siblings, started treatment at 2 and 7 years old.
“I do still have concerns, maybe later in life, ten years down the road, will she have any side effects, I don’t know. I don’t think anyone knows. But at the same time, I would not take back the decision we made to have her in the trial because now she’s living the best life she can live. There’s absolutely no regrets there. And just thinking, the alternative there was her getting sicker and sicker. So, I definitely did a risk-benefit analysis before this all took place, and the benefits just seemed to far outreach the risk in her participating. Obviously, we were concerned, but very happy with the results, and look forward to her being a happy and successful adult.”Interview, 5 years and 9 months on treatment“The side effects for us were very mild and we had been through quite a bit with [Name] already, and his disease pretty progressed on the scale. So the slight things that happened at the beginning of the infusions, that didn’t faze quite a bit or at all.”Interview, 5 years and 8 months on treatment“We are absolutely thrilled with the treatment. The demands of the trial have presented numerous challenges; however, the benefits of the treatment greatly outweigh them.”Survey, 4 years and 1 month on treatment
“It may sound a bit selfish, and that’s not how I mean it, but in our case, in our case we don’t really see that need, because we see how she’s doing. And also, the medical specialists told us she is really doing very well. It’s unbelievable, because often in these types of diseases it’s very difficult to tackle all the symptoms, but in this case, it looks like it’s possible. So, they told us, we believe that as long as [Name] gets this treatment, she will do fine. From that point of view, we don’t really need other medication. I would say this treatment is perfect.” Interview, 3 years and 6 months on treatment
“There’s just nothing treating the neurological portion of this disease that… It’s a fear but it’s a fear that we get to experience because he’s still doing great with us, so it’s just something that we are aware of because this treatment doesn’t help with the neurological things and we’re looking into other things. It’s just an unknown, we don’t know how long things will last with him or what it will look like in the future for him, but I would say more of an unknown. I mean the fear I mean is… We just don’t know what it will look like.”Interview, 5 years and 8 months on treatment“This drug has saved my son’s life, no doubt about that. We are so grateful and always will be, but it doesn’t cross the blood brain barrier to aid in neurological involvement.”Survey, 3 years and 10 months on treatment“I feel like this treatment is working beautifully at reversing damage done to their bodies and basically making their bodies normal again, but now the second piece to the puzzle is finding treatment to slow down or stop the neurological disease progression, or even reverse it. And it’s so important.”Interview, 1 year and 3 months on treatment
“The best way to describe it is that she’s just like a typical child. Like when we share now that [name] has an underlying metabolic genetic disease people are totally shocked and surprised, I have to fill that information out when she attends like trampoline parks or attends school and teachers and people are so confused because they look at her and they’re like wait a minute what?”Interview, 4 years and 11 months on treatment“We have seen a drastic improvement in our child's physical, social, and mental health. He is able to engage and participate in age-appropriate play with his peers. He feels better about himself and his condition knowing that it can be treated.”Survey, 4 years and 1 month on treatment
“I mean there’s not “not” a need [for the therapy], right? You have a clear example in my child, in other children, and I hate saying it but the children that have passed. The pre-teens that have passed, the people that have passed. And that’s probably, without getting emotional, that’s probably one of the hardest parts of this journey for the last five years, four years, is seeing that my child is living a typical life. Our lives have returned to what you would call normalcy living because of this treatment for my daughter. And yet there have been other people that haven’t had that ability to access it that may have lost their lives because of it.” Interview, 4 years and 11 months on treatment“We see that [name] is doing really well, there is not one symptom that we could wish to be further decreased. She has lots of energy, her belly is normal, she eats normal, she can play and do physical exercise like a normal 7-year-old girl. Also the doctors tell us that they could not have wished for any better result since all the parameters that are measured/followed up have gone towards normal a lot.”Survey, 3 years and 6 months on treatment“I have seen almost complete resolution of disease manifestations with the treatment.”Survey, 6 years and 1 month on treatment“Our daughter leads a life just like any other 7-year-old without ASMD and that’s all you ever want for your child.”Survey, 4 years and 11 months on treatment“Everything changed for [name], physically, mentally, it changed our family for the better.”Survey, 4 years and 11 months on treatment
“We’re unique in which we had two kids going through the trial and our younger one was experiencing less symptoms because he got on early.”Interview, siblings started treatment at 7 years and 2 years of age, 4 years and 1 month and 6 years and 1 month on treatment, respectively
“To pinpoint emotionally what we were going through was virtually impossible, because we had both ends of the spectrum. We had one kid who was able to do it and get the treatment so young where it had so much less of an impact on his body. And we were so hopeful in that sense. And yet we felt on the other end another kid knowing, which we saw physically what it was doing to him and emotionally and socially how he was struggling in school and so on. We were seeing all ends of every emotion possible."Interview, siblings started treatment at 7 years and 2 years of age, 4 years and 1 month and 6 years and 1 month on treatment, respectively
“It would be horrific. I cannot imagine not having it. It would... I don’t even know. I'm lost for words to say. If she didn't have access to it, it would be completely devastating. It, literally, has changed her life. She has been completely altered into a normal person living a normal life, all due to the treatment.”Interview, 5 years and 9 months on treatment“It’s something I don’t even want to think about. […] Without it, all those amazing things would go away. [Name] wouldn’t be [name] anymore she would be back to this fragile, sick, inability to walk, inability to run, inability to play, inability to go to school. All of those things that she can do now they would go away.”Interview, 4 years and 11 months on treatment