“I have SMA, SMA doesn’t have me”- A Qualitative Snapshot Into the Challenges, Successes, and Quality of Life of Sma Adolescents and Young Adults


 Background: With the approval of two treatments for spinal muscular atrophy (SMA) and several promising therapies on the horizon, the SMA adolescent and young adult populations are expected to evolve in the coming years. It is imperative to understand this cohort as it exists today to provide optimal care and resources, as well as to assess possible treatment effects over time. In 2018, Cure SMA launched two initiatives geared towards understanding adolescents and young adults with SMA, ages 12-25. First, Cure SMA launched a clinical meaningfulness survey to capture information, quantitatively and qualitatively, on the quality-of-life of this population. Concurrently, Cure SMA invited SMA-affected individuals, ages 12-25, to create a three-minute video on their everyday experiences living with SMA. An inductive thematic analysis of the open-ended section in the survey along with the video contest findings are reported here.Results: Eighty-five individuals — 6 type Is, 58 type IIs, and 21 type IIIs — completed the open-ended section of the survey, while six individuals, mostly type II, participated in the SMA awareness video contest. In both settings, individuals detailed a wide variety of challenges, including but not limited to forming or maintaining close relationships, feelings of isolation, challenges with accessibility, independence, and dealing with the stigma of being perceived as mentally disabled. Individuals also discussed their successes, including but not limited to higher education enrollment and attendance, development of quality friendships, and perseverance through obstacles. Additionally, in the survey, an overwhelming number of respondents (39%) requested the creation of an SMA peer support group in efforts to connect with each other as well as collectively navigate the aforementioned challenges they face. Conclusion: Together, these findings provide a rare glimpse into the unique mindsets, challenges and motivations of SMA adolescents and young adults, via patient-reported measures instead of caregiver proxy. The adolescent and young adult age demographics assessed represent a critical transition period in life and in SMA care. No one understands the needs of an adolescent or young adult with SMA better than the individuals themselves, and it is critical to capture their insights in order to affect change.

SMA has been traditionally classi ed into ve subtypes based on age of symptom onset and maximal achieved motor abilities (Russman, 2007). SMA types I, II, and III are observed most frequently, with type I estimated to account for 50-60% of SMA diagnoses (Arnold et al., 2015;Belter et al., 2018). In SMA type I (Werdnig-Hoffman Disease), patients are diagnosed within the rst 6 months of life and are never able to sit independently. Traditionally, without treatment, these individuals require intensive supportive care, including respiratory and feeding support as they quickly lose the ability to swallow, speak, eat and ultimately breathe (Zerres et al., 1995;Arnold et al., 2015;McGraw et al., 2017;Verhaart et al., 2017;Wadman et al., 2018). In SMA type II, (Kugelberg-Welander disease) patients experience symptom onset within the rst 18 months of life and have achieved the ability to sit independently but will not achieve the ability to walk unaided. Over time, these patients may develop di culties involving chewing and swallowing, respiration, as well as progressive scoliosis (Zerres, et al., 1997;Messina et al., 2008). In SMA type III, (Juvenile) patients achieve the ability to stand and walk independently but may lose these abilities over time (Zerres, et al., 1997, Messina et al., 2008. This type, which accounts for approximately 10

Survey Supplement Design
The objective of the SMA clinical meaningfulness survey supplement (open-ended questions) was to provide an opportunity for adolescents and young adults affected by SMA to share, in their own words, individual experiences about living with SMA as well as highlight topics important and speci c to their stage of life. The survey was approved by a US Institutional Review Board (Approval Number 1-11240001-1). Written informed consent was obtained from all adult respondents prior to the conduct of any research related activities. For minor adolescent respondents (ages 12-18), written consent from a parent/guardian was obtained, as well as the survey respondent's assent thereafter. Survey structure was comprised of three sections: 1) demographics information, 2) SMA Health Index instrument (SMA-HI, a patient reported outcome measure developed by Dr. Chad Heatwole at the University of Rochester) (Heatwole, 2018 abstract), and 3) the four-question open-ended supplement. The latter was designed to provide survey participants the opportunity to share experiences and aspects of their daily lives, including schooling and socialization, which is presented here. No guidelines were given towards these responses. The survey was generated through SurveyMonkey. The clinical meaningfulness information collected through the SMA-HI in the survey will be presented in a future publication.

SMA Awareness Video Contest Design
The objective of the video contest was to raise awareness about the impact/burden of SMA on adolescents and young adults, and learn about the strategies they use/have developed to help navigate their day to day life and the challenges that come with managing this multifaceted and complex disease. The contest was a pilot program for the SMA Industry Collaboration, a collaboration of pharmaceutical and biotech companies involved in the development of SMA therapeutics. Contest guidelines included general topic suggestions that participants could discuss within a three-minute time limit. Topics suggestions included but were not limited to schooling, everyday routine, relationships with family and friends, and activities/interests. However, participants were encouraged to speak on any topic relevant to their lives as adolescents or adults with SMA. Post-completion, this project was submitted for and received IRB exemption for the purposes of retrospective analysis (Approval Number 1-1305771-1). For more information on contest guidelines, please review Appendix A.

Sample and recruitment strategies Survey Supplement Design
The clinical meaningfulness survey was advertised through targeted email blasts sent to over 400 families using Cure SMA's membership database as well as Cure SMA's social media platforms. Cure SMA currently maintains a robust database that features data from over 8000 individuals affected with SMA (Belter et al., 2018). As of June 1, 2018, 412 individuals between the ages of 12-25 were contacted within the database. Eighty-three percent of this cohort is composed of type II and III affected individuals (Belter et al., 2018). Email blasts and social media reminders were disseminated biweekly. Materials directed at consenting adults contained a direct link to the survey, while materials designed for families of minors contained information regarding the parent/caregiver consenting and the participant assenting process prior to the survey. The survey remained open from November 2018 through January 2019 for a total of eight weeks-an initial six-week submission period with a two-week extension.

SMA Awareness Video Contest
The contest was announced on Cure SMA's website and social media platforms in October 2018 and ran through January 2019. Targeted e-mail blasts featuring contest guidelines were disseminated to over 400 families of SMA on a biweekly basis, using the Cure SMA membership database; recruitment reminders were also posted on Cure SMA's web and social media pages. The contest submission period was six weeks, after which point all videos were reviewed and approved by Cure SMA staff for video length and use of appropriate language, and subsequently uploaded to Cure SMA's YouTube channel. All submitters received an Amazon gift card, as a thank-you for their participation. The three videos with the most "likes" received an additional incentive. These videos have remained on Cure SMA's YouTube Channel, incurring over 10,000 views during the voting period of the contest and over 25,000 views as of 2020. Video submissions are still accessible; a full link along with contest results can be found in Appendix B.

Data Analysis
An inductive thematic approach was adopted for qualitative analysis of the survey supplement. For each survey question, all responses were manually sorted by the primary author into themes through the identi cation of key words and sentiments. Key words were identi ed retroactively of survey completion, for purposes of data analyses. Although the prompts were open-ended, there was a high concordance in responses across participants, particularly regarding the nal question. Once all responses were categorized, they were sorted by age, SMA type, and respondent's maximum motor function at the time of survey completion, with all demographic information being self-identi ed. Regarding video submissions, videos were analyzed for key themes as well as the percentage of time the participant spent on each key theme. Cure SMA team members reviewed the data and thematic categorization of each video entry. For demographic data, descriptive statistics were generated using Microsoft Excel. The methods for collecting the data here reported were non-interventional, cross-sectional, qualitative, open-response forums involving semi-structured questions and guidelines. Statistical signi cance based on response age and maximum motor function at time of survey completion was assessed using Fischer's exact test. For detailed information regarding key words and phrases included in each theme as well as statistical signi cance results, please see Supplemental Tables I-VIII.
In the results detailed below, individuals involved with the survey will be referred to as 'respondents', while individuals involved with the video contest will be referred to as 'participants'.

Participation rates and sample characteristics
The survey supplement elicited eighty-ve (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 identi ed as female, thirty-one (31) as male, and one as nonbinary. Six individuals identi ed as type I, fty-eight (58) as type II, and twenty-one (21) as type III. The video contest received six submissions; four from adolescent minors and two from young adults. Five of the six individuals identi ed as type II; the remaining participant was a young adult with type III. Of note, participation of type I individuals in these types of initiatives is typically low. As previously described, traditionally, most of those affected with SMA type I do not survive past the age of two and those who do survive present with a very severe phenotype (requiring respiratory and feeding support and little to no movement) that would make participation in these studies very challenging. Additionally, the awareness video contest response rate is hypothesized to be much lower than the survey response rate due to the high demands of the contest design, including creating and editing a video submission, publicly posting to YouTube, and the subsequent contest campaigning. Sample demographics and clinical characteristics can be found on Tables I and II.   Table I: Clinical Meaningfulness Survey-Supplement Demographics 85 individuals responded to the clinical meaningfulness survey supplement. *Motor function abilities were divided into three categories: non-independent sitters (head control, maintain seated position supported), sitters/non-independent walkers (maintain seated position unsupported, crawl, cruise), and walkers (walk independently). All demographic information was self-identi ed. All percentages are based on the total surveyed population of 85 respondents.

Participant responses and key themes
The rst question posed in the survey supplement asked respondents to detail a di cult aspect of managing SMA with everyday life. The following two questions focused on how SMA affects schooling and socialization. The nal question asked respondents for resource suggestions that may help to improve their quality of life, speci cally for individuals within their age group. Overall results indicating the most common responses obtained in the category for each question are shown in Table III, which also shows overall response breakdown by maximum motor function at the time of survey completion. Video submissions were analyzed by percentage of time the individual spent on a given theme, with majority of participants focusing on social engagement and overcoming obstacles. The full breakdown can be found in Figure I, and further information on this breakdown can be found in Supplemental Table IX. Survey supplement overall highest responses are categorized. All survey supplement questions were open-ended with no suggestions or context for responses given. Responses are broken down by motor function at time of survey completion above, and by age in results below. Percentages are reported by total respondents in rst column, and by motor function level in the proceeding columns. For some questions, multiple answer categories tied for most frequent response by motor function.

Figure I: Video Contest Submission Breakdown by Topic
Video contest submissions were broken down into six major themes: social engagement, everyday life, physical health, emotional health, overcoming obstacles and other obstacles. Participants were given rough guidelines of submission topics but were encouraged to speak out about what is most important to them.
What is the most di cult aspect of balancing SMA symptoms with everyday life?
The rst question of the survey supplement addresses the most di cult aspect of balancing SMA symptoms with the everyday lives of adolescents and young adults. The highest cited factor overall was dependence on others and the lack of independence. This nding is very much supported by previous qualitative research conducted among adults and caregivers or individuals with SMA (Qian et al., 2015; Renault et al., 2017; Cruz et al., 2018) 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; SMA-II, age 22, female). Dependency was discussed by 20 participants, primarily comprised of type II individuals and sitters/non-walkers of all ages. This nding is statistically signi cant (p = 0.008) across motor function. Reliance on others was a signi cant theme discussed by half of the participants who submitted videos. One participant said, "I have to have a full-time para. It's hard having a para because I'm like 15, I'm a teenager, and it's not super fun having someone attached to my hip" (Participant 04, SMA-II, age 15, female).
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, SMA-III, age 20, female). Over half of survey respondents who discussed accessibility were type III individuals with a maximum motor function of walking independently at time of survey completion, and this nding is statistically signi cant by motor function (p = 0.005). Regarding fatigue, one respondent remarked, "Everything is di cult because depending on the day, my muscles get tired which makes me tired" (Respondent 30, SMA-II, age 12, female). Fatigue was mainly discussed by type II individuals with a maximum motor function of non-independent sitting, but no type I individuals. Regarding socialization, one respondent wrote, "It's hard to always keep up with my friends" (Respondent 20, SMA-II, age 14, nonbinary).
Other factors mentioned with less frequency included the burden of pain and physical symptoms, nding proper care and nding a healthy life balance. Two type I individuals cited pain as their most di cult aspect of balancing life, one writing, "Just dealing with the pain." (Respondent 01, SMA-I, age 15, male). Finding one-on-one care was only cited by young adults, and this nding is statistically signi cant (p < 0.05) by age. Please refer to Figure II for more information regarding responses categorized by motor function at time of survey completion, and Supplemental Tables I and II for key words and responses broken down by correlations of age and motor function.
Video submissions elaborated on a variety of challenges faced by SMA adolescents and young adults.
Such examples include fatigue, di culty making friends, and feeling unable to participate in everyday life. Although participants did discuss obstacles, participants spent much more time detailing how they work to overcome said obstacles. Dependence and the lack of independence was the highest-cited di cult aspect, incurring 20 total respondents. When categorized by SMA type and motor function at time of survey completion, type II individuals considered "sitters" were the main respondents of this choice.
How does SMA affect schooling?
The second question of the survey supplement inquired about the impact of SMA and SMA symptoms on schooling. With no overarching factor, 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, SMA-II, age 18, male). This answer was primarily indicated by type II individuals with maximum motor function below independent walker.
Conversely, the other most frequent responses indicated a much higher burden. These answers include accessibility, aid and assistance, homeschooling, and fatigue. Accessibility received 9 responses, mainly comprised of type III individuals with various levels of motor function. One respondent wrote, "I use an elevator and a rolling backpack, and the other students do not" (Respondent 72, SMA-III, age 12, male). Aid and assistance also received 9 responses, including two type I individuals and the remaining type II. One respondent wrote, "It forces me to require a 1 on 1 aide" (Respondent 05, SMA-I, 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 signi cant by age (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, SMA-II, age 14, female). Fatigue was also discussed by 8 individuals, this time primarily indicated by young adults. This nding is also statistically signi cant (p = 0.026) by age. 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). For more information, please refer to Figure III Tables III and IV for key words and responses broken down by correlations of age and motor function.
All video contest submissions highlighted the impact of SMA on schooling. Schooling was discussed in over 10% of allotted time in all submissions. One participant said, "My academic experience was not a normal one. 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 06, SMA-II, age 18, female).

Figure III: Survey Supplement Responses to Question II
Although the most common response was 'no effect' with 13 total participants, responses were distributed evenly across a variety of factors including accessibility, aid, and fatigue. When categorized by SMA type and motor function at time of survey completion, type II individuals considered "sitters" were the main respondents of this choice, while non-sitters more commonly detailed accessibility, aid, and time/effort as challenges.
How does SMA affect socialization?
The third survey supplement question asked how SMA affects socialization. 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 de nitely won't have the same amount of independence as a sixteen-year-old who doesn't have SMA" (Respondent 72, SMA-III, age 16, male).
Once again, a high rate of respondents indicated no effect, incurring responses from all SMA types and levels of motor function. One respondent stated, "It does not really affect my social life because my friends are cool" (Respondent 06, SMA-I, age 14, female). This sentiment was echoed in video submissions as well. One 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 05, SMA-II, age 15, female).
Conversely, some survey respondents felt the opposite, with little to no socialization. "What social life?" one respondent remarked (Respondent 03, SMA-I, 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, SMA-II, age 12, female). This answer was discussed by 6 respondents of all SMA types, and also detailed in a few video submissions. One participant elaborated "All throughout elementary school, I was king of the campus. I had lots of friends and did not recognize I was different from any of the other kids. But in middle school, 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 01, SMA-II, age 17, male).
Other factors impacting socialization include activity limitations, communication di culties, and feeling judged or misunderstood. Regarding 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)" (SMA-III, Respondent 85, age 22, female). Regarding communication di culties, one respondent wrote, "People have a hard time understanding me" (Respondent 11, SMA-II, 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, SMA-II, age 18, female). Dependence as a response in this section once again obtained statistical signi cance by motor function, with all respondents being independent sitters (p = 0.04). For more information, please refer to Figure    'No effect' on socialization was most commonly cited by non-sitters, though it was followed closely by major effects including accessibility concerns and an absence of socialization.
What resources should exist for teens and young adults with SMA?
The nal question of the survey supplement asked respondents what resources they would like to see created for this speci c SMA population. Overwhelmingly, 33 responses, across all types 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, SMA-II, age 18, male). Another respondent remarked, "Support groups to help cope with the emotional and mental toll of SMA" (Respondent 53, SMA-II, 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, SMA-II, 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, SMA-II, age 25, female). The importance of attending college was also highlighted in the video contest, with one participant in college and another excited to attend in the fall. The latter said, "I'm currently a senior in high school and I'm planning on living on the University of Arizona campus next year. Yes, without my parents. Yes, I know I'm disabled" (Participant 06, SMA-II, age 17, male).
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, SMA-II, age 18, female). Regarding accessible activities, respondents suggested the creation of a wheelchair accessible waterpark, video game console and sport speci cally modi ed to t the needs of all SMA types. Lastly, a few respondents wrote that a cure would be an excellent resource. For more information, please refer to Figure V  While the video submissions did not discuss speci c 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 02, SMA-II, age 20, female). The overwhelming majority response to Question 4 was peer-support groups. Question 4 exhibited the largest group consensus.

Correlations of Findings Between Age and Motor Function Status
In comparing our population as a whole to the SMA adult population captured in previous publications, our top responses coincide with their key ndings. Accessibility was a high response in our study in relation to schooling (Question 2) and socialization (Question 3), as well as a statistically signi cant response with regards to motor function in context of Question 1 (p = 0.005). These ndings correlate with accessibility and limited mobility being identi ed as the symptom with the greatest effect on SMA adults in the SMA Patient-Reported Impact of Symptoms (PRISM-SMA) study (n = 359) (Mongivoni et al., 2018). Fatigue was also identi ed as clinically meaningful, frequently highlighted in both in the PRISM-SMA study as well as our research in Questions 1-2. Furthermore, dependence was found to be a very di cult challenge in both our study and the existing literature. Dependence was the highest reported symptom for Question 1, as well as a statistically signi cant result with respect to motor function in Question 3 (p = 0.04). Achieving greater independence with treatment was considered to be extremely signi cant, and therefore, clinically meaningful to parents/caregivers as well as affected adults (McGraw et al., 2017;Qian et al., 2017). Similarly, results from a global polling with SMA parents/caregivers and affected adults at an externally led Patient-Focused Drug Development Meeting corroborated the nding that any treatment that increases independence is acutely meaningful (Cruz et al., 2018).
When breaking our population into cohorts of adolescents (ages [12][13][14][15][16][17][18] and young adults (ages [19][20][21][22][23][24][25], it is evident that certain themes are most relevant to certain age groups versus others (see Supplemental  Tables II, IV, VI, and VIII). Statistically signi cant results were found in Questions 1, 2 and 4 with respect to differing priorities. Only young adults requested the creation of college and independent transition materials (p = 0.00) and young adults also more frequently reported fatigue issues in school (p = 0.026) and issues nding care (p = 0.05). Conversely, adolescents were more likely to report being homeschooled (p = 0.006). With these differences noted between age groups, majority of the key factors impacting the day to day lives of adolescents and young adults were largely shared by both groups.
Regarding motor function, accessibility and dependence results were found to be statistically signi cant (see Supplemental Tables II, IV, VI, and VIII). Accessibility concerns were mainly voiced by participants who previously walked or were able to walk at the time of survey completion (p = 0.005). While accessibility was a main issue for these individuals, the sentiment was not shared by non-sitters, who more frequently detailed pain or communication di culties. Non-walkers were the most likely to voice challenges regarding dependence or reliance on others, and these results were signi cant with respect to Question 3 (p = 0.04) and Question 1 (p = 0.008). While motor function status was correlated with some responses, many responses had no correlation with motor function. At least one individual of every motor function group discussed di culties regarding mental health, feeling left out, or needing more time and effort in school. Additionally, the no effect responses detailed in schooling and socialization all incurred varied responses from all levels of motor function.
Although age and motor function were not directly addressed in the video contest, ve of the six video contest submissions were individuals using wheelchairs, while one was a young adult who was once an independent walker now often requiring support. She discussed facing her loss of ability at this stage in life, "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).

Discussion
Potential Impact of Peer Support Groups A peer support group was the most requested resource as well as the most desired resource to support this population. Such a resource is not uncommon for disease populations. In a July 2013 publication from Patient Education and Counseling, researchers performed a literature review on peer support interventions from 25 chronic disease studies. They found that while there were bene ts to both mentor/mentee programs and age-matched support groups, the latter had the greatest potential for symmetrical and mutually bene cial relationships leading to greater emotional support (Embuldeniya et al., 2013). This is consistent with our ndings; although a mentoring buddy program was requested, the requests for a peer support program were much greater.
Furthermore, peer support groups are common resources for this age demographic within and outside of the rare disease community. In a 2015 study regarding cystinosis support groups for emerging adults (n = 49), participants reported valuing the connection and support they received from those who understand their lived experience (Doyle, 2015). Additionally, in a 2018 study involving a literature review regarding 15 studies on the impact of peer support groups on adolescents struggling with mental health, support groups were shown to be positive in uences in the management of short-term and long-term problems (Roach, 2018). These articles are consistent with our population's interest and demonstrate the strong potential for bene t were this resource to be created. Undoubtedly, teens and young adults with SMA view peer support groups as preferred mechanism to cope with the reported isolation they experience as a result of their disease.

No Effect vs Severe Effect of SMA on Schooling and Socialization
In both the schooling and socialization questions of the survey supplement, a parabola effect was observed in high frequency answers. A similar number of respondents felt that either, SMA greatly affected, or had no effect on their schooling or socialization, two signi cant aspects of life in this age period. The majority of those who felt that SMA did not impact schooling were not the same individuals who felt that SMA did not impact their socialization. This indicates that while SMA may not impact each aspect of adolescent and young adult lives equally, each individual was impacted in at least one signi cant portion of his or her life. It is important to note that neither of these questions received a large group consensus unlike everyday life or resources, with similar frequencies reported amongst many responses instead. As neither the 'no effect' response or the greatly affected responses were statistically signi cant with respect to age or motor function, based on our ndings, all adolescent and young adults with SMA have the potential to be severely affected in at least one if not more major areas of everyday life.

Impact on Mental Health
Although mental health was not the most frequent factor in any supplement category, the impact of SMA on mental health can be severe . Across the four supplement questions, mental health was discussed by twelve different participants. One 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, SMA-III, age 20, female). Other respondents were more succinct but equally impactful. One respondent wrote, "Depression. It makes everything worse and less bearable" (Respondent 09, SMA-II, age 16, female). Similar issues regarding mental health have been observed in both the adult SMA population as well as the larger adolescent population. It is estimated that approximately one in ve adolescents struggles with mental health or a diagnosable mental health disorder (Roach, 2018). Additionally, in a poll conducted among caretakers and individuals with SMA, during the SMA Patient Focused Drug Development Meeting with FDA, 105 adults with SMA reported having experienced anxiety (79%), depression (61%), and social isolation (63.8%) as a result of coping with SMA and SMA symptoms (Cruz et al., 2018). Furthermore, in a series of 25 interviews conducted with SMA-affected young adults and adults in Australia, mental health was highlighted as a major unmet need, particularly in stressful times related to SMA symptoms including loss of function, social isolation, stigma and questions of self-worth (Wan et al., 2020). While this impact was not found as profound in our studies, those who were affected described being impacted severely, from withdrawing from mainstream school to ongoing battles with depression. Within our respondents who indicated issues with mental health, there were no similarities in other answer choices.
Survey respondents as well as video participants discussed the impact of being considered disabled, simply by having a wheelchair. 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, SMA-II, 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, SMA II, age 18, female).
Two video contest participants delved deeply into issues surrounding mental health. One participant detailed, "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 participant acknowledged, "As soon as middle school started, I was thrown into a deep depression, and I still haven't fully recovered" (Participant 06, SMA-II, age 17, male).
It is di cult to compare our study with existing publications of SMA qualitative work because our efforts were targeted at a very speci c age cohort. Although the speci c challenges surrounding schooling and socialization are vastly different, common themes can be identi ed in various publications, such as dependence or social isolation. In an SMA Australia study composed of 25 interviews with SMA affected young adults and adults, reliance on others for care, support and assistance was considered a vital but persistent challenge (Wan et al., 2019). In the same study, interviewees paralleled video contest participants in citing issues surrounding the stigma of wheelchairs and being perceived as disabled (Wan et al., 2019). Interestingly, the speci c psychosocial and developmental challenges observed in our research are like the larger adolescent and young adult populations. These population archetypes struggle with feeling left out at school, navigating adulthood, and nding independence (Roach, 2018).
Our results indicate that SMA affected adolescents and young adults experience typical age-demographic challenges compounded by the burden of coping with and managing a signi cant disability.

Overcoming Adversity
One element of the video contest that was not covered in the survey supplement 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 that having a disability isn't all terrible and it isn't all sad. You can have a disability and still have a life that's full and ful lling" (Participant 02, SMA-II, 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 gure out a way to do it. There are challenges, but there are ways to help, that's what SMA is all about" (Participant 04, SMA-II, age 15, female). This resilient spirit complements the SMA Australia publication, in which adversity, resilience and grit were found to be a key component of SMA adolescents and young adults' lives. Study participants described strategies including focusing on abilities rather than disabilities, and prioritizing self-worth and value (Wan et al., 2019).

Successes/Accomplishments
Although not directly addressed in the survey supplement, it is evident that many respondents are leading productive lives despite challenges. Regarding education, of the young adult respondents, 16 are currently enrolled in college, with 12 individuals having graduated college and 3 individuals holding a graduate degree. This is consistent with the larger adult SMA population, with over 20% of individuals in the Voice of the Patient report indicating the completion of a bachelor's degree or higher (Cruz et al., 2018). In the schooling section, a few individuals highlighted their accomplishments. One survey respondent wrote, "Graduated from the Wharton School at the University of Pennsylvania" (Respondent 29, SMA-II, age 23, male) while another wrote, "I get As and Bs" (Respondent 06, SMA-I, age 14, female). In the video contest, one participant currently in college highlighted their future plans. "After I nish 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 02, SMA-II, age 20, female).

Hobbies/Interests
Many survey respondents as well as video contest participants highlighted their interests outside of their disease. In response to the question regarding socialization, one respondent wrote, "I still go dancing!!!!!" (Respondent 68, SMA-III, age 23, female). Being able to participate in activities, speci cally physical activities and sports, has been linked to improved mental and social well-being in adolescents and young adults affected by neuromuscular disorders (Vita et al., 2020). In the video contest submissions, all participants highlighted their interests, ranging from video games to student government, attending concerts, and travel. One participant said, "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. I've gotten to know so many people and they've really gotten to know me" (SMA-II, Participant 02, age 15, female). Additionally, many participants highlighted unique experiences they have gotten to have.
To a slideshow of their achievements, one participant re ected, "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 01, SMA-II, age 17, male).

Implications and Future Directions
The ndings of this research corroborate previous ndings on disease burden and quality of life in adults and caregivers with SMA (Hunter et al., 2016;Rouault et al., 2017;Wan et al., 2019). These ndings also point to gaps and tangible opportunities to guide patient organizations and other key SMA stakeholders to generate important community and school resources that may help to improve the experience of teens and young adults living with SMA. For instance, the consensus and enthusiasm for a peer support group was unmatched and demonstrates a clear need in this community. It is a possibility worth investigating, as these individuals possess knowledge and experience worth sharing. Equally salient, is the creation of college and independent living transition materials and information about accessibility in schools and college campuses. Additionally, these studies provide a rst-time captured perspective on teens and young adults with SMA, along key dimensions that impact the quality of life in this population, at a unique point in time. There is much more to be explored, both regarding the current generation as well as future adolescents receiving transitional care in the landscape of SMA's changing phenotypes. Future awareness efforts are needed to combat the stigma that comes with a disability, and the barriers regarding accessibility, to ensure this population fully experiences the best life they possibly can. Lastly, developing programs that support optimal functioning and mental health among teenagers and young adults living with a complex disease is of utmost importance.

Conclusion
As SMA treatments and care expand, more and more SMA-affected children will live to become teenagers and young adults with bright futures ahead. It is imperative to understand the current life experience in order to improve it for future generations. It is equally important to capture this information in order to increase the quality of life for this generation. It is evident that this population has a big voice with valuable insights, and no one understands the needs of the SMA community better than those directly affected. Despite all of the challenges and complexities that come with living with SMA as teens and young adults, these teens are living full, successful lives. Indeed, via this work, we have learned that these individuals have SMA but SMA does not have them.

Declarations
Ethics approval and consent to participate The clinical meaningfulness survey was approved by a US Institutional Review Board (Approval Number 1-11240001-1). Written informed consent was obtained from all adult respondents prior to the conduct of any research related activities. For minor adolescent respondents (ages 12-18), written consent from a parent/guardian was obtained, as well as the survey respondent's assent thereafter. Regarding the awareness video contest, the project was submitted for and received IRB exemption for the purposes of retrospective analysis (Approval Number 1-1305771-1). All contest participants consented to publication and posting their videos on the Cure SMA YouTube page.   Responses to Survey Supplement Question 1 Dependence and the lack of independence was the highestcited di cult aspect, incurring 20 total respondents. When categorized by SMA type and motor function at time of survey completion, type II individuals considered "sitters" were the main respondents of this choice.

Figure 3
Survey Supplement Responses to Question II Although the most common response was 'no effect' with 13 total participants, responses were distributed evenly across a variety of factors including accessibility, aid, and fatigue. When categorized by SMA type and motor function at time of survey completion, type II individuals considered "sitters" were the main respondents of this choice, while non-sitters more commonly detailed accessibility, aid, and time/effort as challenges.

Figure 4
Survey Supplement Responses to Question 3 'No effect' on socialization was most commonly cited by non-sitters, though it was followed closely by major effects including accessibility concerns and an absence of socialization.