Quality of Life Survey
Participation rates and sample characteristics
The QoL survey elicited eighty-five (85) responses. Of the respondents, forty-four (44) were adolescent minors (ages 12-18, mean age 15), while forty-one (41) were young adults (ages 19-25, mean age 21). Fifty-three (53) individuals identified as female, thirty-one (31) as male, and one as non-binary. The most prevalent motor function level at both time of diagnosis and at time of survey completion was non-sitter, with a decrease in overall walkers between categories. As respondents were recruited from the survey through the Cure SMA database, demographic information could be verified. Sample demographics and clinical characteristics can be found on Table I.
What is the most difficult aspect of balancing SMA symptoms with everyday life?
The first free text question of the QoL survey addressed the most difficult aspect of balancing SMA symptoms with the everyday lives of adolescents and young adults (Table 2, Supplemental Table 1). The highest cited factor overall was dependence on others and the lack of independence. One respondent wrote, “At this point I don’t know any different, but it’s the fact that you always have to rely on someone that starts to become overwhelming” (Respondent #63; sitter, age 22, female). The respondents who indicated dependency were most likely to be sitters/non-walkers (p= 0.008).
Other highly cited factors included accessibility, fatigue, and social concerns. Regarding accessibility, one respondent wrote, “There is an awful lot of planning that has to go into getting around a huge campus like where I go to school. I worry all the time about stupid things like whether or not my chair lift in my car will work, whether it will snow outside by building and I will slip on the ice, what happens if I fall in the shower, will my smart drive be charged to get me through the day” (Respondent #86, walker, age 20, female). There was a statistically significant difference in discussing accessibility by motor function (p=0.005), as the majority of individuals reporting accessibility were also independent walkers. Fatigue was more often mentioned by individuals with a maximum motor function of non-independent sitting, but few of these individuals were indicated to be non-independent sitters. For instance, one respondent remarked, “Everything is difficult because depending on the day, my muscles get tired which makes me tired” (Respondent 30, non-independent sitter, age 12, female). Regarding socialization, one respondent wrote, “It’s hard to always keep up with my friends” (Respondent 20, sitter, age 14, non-binary).
Other factors mentioned with less frequency included the burden of pain and physical symptoms, finding proper care and finding a healthy life balance. Multiple non-independent sitting individuals cited pain as their most difficult aspect of balancing life, one writing, “Just dealing with the pain.” (Respondent 01, non-independent sitter, age 15, male). Finding one-on-one care was only cited by young adults, and this finding is statistically significant (p<0.05) by age. Response categories are shown by age and motor function at the time of survey completion in Table II and the themes by type in Supplemental Table I.
How does SMA affect schooling?
The second question of the QoL free text inquired about the impact of SMA and SMA symptoms on schooling (Table 3, Supplemental Table 2). The largest response category was no effect with 13 responses. Some respondents simply indicated “it doesn’t”, while others elaborated on their situations. “SMA does not affect my schooling. I am currently enrolled in college and taking 14 units on campus” (Respondent 36, sitter, age 18, male). This response was primarily indicated by individuals with a maximum motor function below independent walker.
Conversely, the other most frequent responses indicated much higher burden. These answers include accessibility, aid and assistance, homeschooling, and fatigue. Accessibility received 9 responses, mainly comprised of individuals with various levels of motor function, but who identified as Type III. One respondent wrote, “I use an elevator and a rolling backpack, and the other students do not” (Respondent 72, walker, age 12, male). Aid and assistance also received 9 responses. One respondent wrote, “It forces me to require a 1 on 1 aide” (Respondent 05, non-independent sitter, age 18, male). 8 individuals discussed homeschooling, for reasons including germ exposure and placement struggles. This response was primarily indicated by adolescents and is statistically significant by age groups (p=0.006). A respondent detailed, “I stopped going to public school, now I do it at home. They put me with all of the other special needs kids because I was in a wheelchair” (Respondent 64, sitter, age 14, female). Fatigue was also discussed by 8 individuals, this time primarily indicated by young adults. This finding is also statistically significant (p=0.026) by age groups. One respondent stated, “Because of my lack of energy, I could not handle being a full-time student” (Respondent 74, SMA-III, age 23, female). Response categories are show by age and motor function are the time of survey completion in Table III and the themes by type in Supplemental Table II.
How does SMA affect socialization?
The third free-text question asked how SMA affects socialization (Table IV, Supplemental Table III). The highest responses were accessibility and no effect, each detailed by 16 respondents. Accessibility respondents once again primarily consisted of individuals with the maximum motor function of independent walker. One respondent remarked, “Since I use a wheelchair now, I have to think about accessibility. Are my friends’ homes accessible for me? Are the locations of social activities accessible? I definitely won’t have the same amount of independence as a sixteen-year-old who doesn’t have SMA” (Respondent 72, sitter, age 16, male).
A high rate of respondents indicated no effect, incurring responses from all levels of motor function. One respondent stated, “It does not really affect my social life because my friends are cool” (Respondent 06, non-sitter, age 14, female). Conversely, some survey respondents felt the opposite, with little to no socialization. “What social life?” one respondent remarked (Respondent 03, non-sitter, age 15, male). Another respondent wrote, “SMA affects my social life very much. I never want to go out because everyone stares at me everywhere I go” (Respondent 19, non-sitter, age 12, female). This answer was discussed by 6 respondents of all motor function levels
Other factors impacting socialization include activity limitations, communication difficulties, and feeling judged or misunderstood. While describing activity limitations, one respondent wrote, “I am not able to do many activities. It affects my social life and my love life (by that I mean I don’t have one)” (Respondent 85, walker, age 22, female). Additionally, one respondent noted communication difficulties, stating, “People have a hard time understanding me” (Respondent 11, non-sitter, age 20, male). Regarding feelings of judgement, one participant wrote, “Many adults and teens speak to me as though I’m much younger or will talk to the person I’m with acting as though I’m not really there” (Respondent 47, sitter, age 18, female). Dependence as a response in this section once again obtained statistical significance by motor function categories, with all respondents being independent sitters (p=0.04). Response categories are shown by age and motor function at the time of survey completion in Table IV and the themes by type in Supplemental Table III, respectively.
What resources should exist for teens and young adults with SMA?
The final question of the QoL free text asked respondents what resources they would like to see created for this specific SMA population (Table V, Supplemental Table IV). Most often mentioned, 33 responses, across all ages and levels of motor function, suggested the creation of peer support groups. One respondent elaborated, “A group where we can just talk to each other about the issues we have, how we deal with them, joke with each other, and just connect over it” (Respondent 44, sitter, age 18, male). Another respondent remarked, “Support groups to help cope with the emotional and mental toll of SMA” (Respondent 53, sitter, age 22, female). Separate, but closely related, was the idea of a big/little buddy support program. One respondent wrote, “It would be useful to pair young adults with older individuals with SMA, like a buddy to learn from” (Respondent 13, non-sitter, age 23, female).
Another frequent suggestion was the creation of college and independent living transition materials. This response incurred 11 responses of all motor function levels. One respondent stated, “More info on going to college independently; as an adult I have met others with SMA who were surprised I went to college and lived independently” (Respondent 52, sitter, age 25, female). Other ideas included improved access to equipment and technology, accessible transportation maps and activities, and accessible video games. Regarding improved access to equipment and technology, one respondent wrote, “Help with better access. Help to get a van for using power chair away from home and school. Grants for families” (Respondent 69, sitter, age 18, female). Regarding accessible activities, respondents suggested the creation of a wheelchair accessible waterpark, video game console and sport specifically modified to fit the needs of all SMA severities. Lastly, a few respondents wrote that a cure would be an excellent resource. Response categories by age and by motor function at time of survey completion are shown in Table V and the themes by type in Supplemental Table IV.
Awareness Video Contest
The video contest received six submissions: four from adolescent minors and two from young adults. Five of the six individuals identified as type II; the remaining participant was a young adult with type III. Ambulatory status was assessed from the video submissions. Please see Table V for full demographic information.
Although the video contents had a much smaller sample size, the findings align with those of the QoL survey. Video content was divided into 6 subthemes discussed by all participants: social engagement, everyday life, physical health, emotional health, other obstacles and overcoming obstacles (Table VI). Of note, all video submissions discussed social engagement in detail, with participants spending a minimum of 20% of their submission time on the topic. Participants highlighted the importance of friendships, as well as the importance of family members, pets, paras and other key relationships. Regarding the impact of SMA on socialization, once again participants spoke to both ends of the spectrum and the high level of impact it had on their emotional well-being. Once participant said, ““I have a few really close friends, and they’re absolutely my best friends. I think that we’re closer than someone who wasn’t in a wheelchair because they walk through SMA with me” (Participant 01, SMA-II, age 15, female). Conversely, another discussed, “I realized that not being included was much harder than it seemed to be. It’s not that I was bullied, but that no one wanted me to be their friend.” (Participant 06, SMA-II, age 17, male).
Regarding difficult aspects of managing SMA, submissions highlighted fatigue and feeling unable to participate in everyday life. One participant detailed the difficulty of transitioning from a fully-independent walker to needing assistive support. “It’s really hard to get up and down stairs, to bring my walker places, to need friends to wait or slow down. I never had to think about any of it before. It’s a challenge I overcome, but I did not think it would be so soon” (Participant 04, SMA-III, age 22, female). Additionally, participants spoke to both ends of the spectrum while describing the impact of SMA on schooling. One participant noted, “I needed an aid as well as many other accommodations, which resulted in a fair amount of arguments with people who just don’t understand” (Participant 03, SMA-II, age 18, female) while another detailed, “I don’t want to be known as the girl in the wheelchair, I want to be known as this cool teenage girl. I’m really into student government, yearbook, French club, Humane society…” (Participant 02, SMA-II age 15, female). While the video submissions did not discuss specific resource recommendations, an inspiration for quite a few participants to create videos was to be a role model for struggling members of the Cure SMA and disabled adolescent communities. One participant said, “I hope to be an inspiration to all the kids out there that grew up like me, who are in wheelchairs and have self-doubt.” (Participant 05, SMA-II, age 20, female).
One element of the video contest that was not covered in the QoL survey is overcoming adversity. Each video participant highlighted challenges they experienced while also discussing their motivations and strategies of resilience. One participant said, “I keep a blog and make YouTube videos to show you can have a disability and still have a life that’s full and fulfilling. I hope to be an inspiration to all the kids out there that grew up like me, who are in wheelchairs and have self-doubt.” (Participant 05, age 20, female). Another participant detailed, “My family and I, we love to get out and travel. We don’t let inaccessible routes or people tell us ‘You can’t go that way.’ Usually, we figure out a way to do it. There are challenges, but there are ways to help, that’s what SMA is all about” (Participant 01, SMA-II, age 15, female). For more information on the topics discussed in the video contest, please refer to Table VI.
Impact on Mental Health
Across the platforms, mental health was discussed by twelve different survey respondents. When detailing difficult obstacles, one survey respondent elaborated, “I was just diagnosed with depression and anxiety mostly from the constant worrying about my life and having SMA, I think that in some cases having SMA makes me want to work harder and prove others wrong, but at the same time there are a lot of days where I just want to give up and say what's the point” (Respondent 86, walker, age 20, female). Other respondents were more succinct but equally impactful. One respondent wrote in the difficult obstacles question, “Depression. It makes everything worse and less bearable” (Respondent 09, SMA-II, age 16, female). Survey respondents also discussed the emotional impact of being considered disabled simply by having a wheelchair. In the socialization question, one respondent explained, “I feel like people judge me just by seeing the wheelchair. People treat me like I’m a baby or mentally disabled or too innocent and I’m none of those things!” (Respondent 61, sitter, age 19, female). Another respondent wrote, “It makes me sad when people stare at me. I know they’re probably just ‘curious’, but still, it makes me upset” (Respondent 18, non-sitter, age 18, female).
In the awareness video contest, mental health issues were discussed in-depth by two participants. One participant elaborated, “After losing my aide of three years and realizing how I was being treated by my peers, depression overcame me. I could no longer stay well” (Participant 03, SMA-II, age 18, female). Another said, “As soon as middle school started, I was thrown into a deep depression, and I still have not fully recovered…It is the physical demands of being disabled that would eventually shape my personality to being an introvert.” (Participant 06, SMA-II, age 17, male).
Successes and Accomplishments
Although not directly addressed in either incitive, it is evident that many adolescents and young adults affected by SMA are leading productive lives despite challenges. In the schooling section of the QoL survey, a few individuals highlighted their academic accomplishments. One survey respondent wrote, “Graduated from the Wharton School at the University of Pennsylvania” (Respondent 29, sitter, age 23, male) while another wrote, “I get As and Bs” (Respondent 06, non-sitter, age 14, female). Many survey respondents also emphasized their interests outside of their disease, such as video games, swimming and wheelchair sports. In response to the question regarding socialization, one respondent wrote, “I still go dancing!!!!!” (Respondent 68, sitter, age 23, female).
Similar successes were also emphasized in the awareness video contest. One video contest participant highlighted their future plans. “After I finish my degree, I plan on working with children who are similar to me, hopefully inspiring them to do what they want to do with their lives. Just because you can’t physically do something doesn’t mean that you can’t follow your dreams” (Participant 05, SMA-II, age 20, female). All contest participants detailed their interests, ranging from clubs to YouTube, attending concerts, and traveling. Additionally, many participants highlighted unique experiences. One participant reflected, “If you want to live twenty hours away from your parents, go for it. If you want to go hunting for [sic] your dad, do it. If you want to go skydiving, why not? My only advice is, don’t be afraid of a challenge. Be excited for it” (Participant 06, age 17, male).