Healthcare experiences
Difficulties with adult healthcare services are common
Of the 17 people with SMA who had transitioned from paediatric to adult care, 16 described the experience as “challenging and scary”. Difficulties were associated with learning to navigate a new and complex healthcare system and engaging with unfamiliar specialists whose approach was experienced as impersonal and compartmentalising. Many participants described differences in information provision and expectations, with a stronger emphasis on self-management and care co-ordination; “Going from a children’s hospital where they explain everything in great detail, to the adult [healthcare environment] where they expect you to know the majority of things, you pretty much had to be on the ball all the time.” (ID005, Person with SMA-II).
Almost all participants reported difficulties identifying and accessing specialists and multidisciplinary clinics for adults with SMA, or perceived available services as inadequate; “Once you hit the adult system, there’s no one that really seems to know what to do” (ID017, Person with SMA-I). Participants mostly accessed or were directed to generic healthcare services, where they were required to explain their condition to health providers; “I still do actually see someone … all he does is check up on me and refer me to other services if I need to. But my experience then is he has no idea really what SMA is” (ID006, Person with SMA-II). Participants described similar experiences with community-based services; “Sometimes they send you a carer who has no idea how to use the hoist” (ID022, Person with SMA-III).
Participants also described widespread difficulties accessing funding and equipment, as well as major resource gaps and a clear lack of support in navigating the system; “Was I given a lot of assistance and guidance? No. One of the frustrating things was that I knew nothing about the system. I had to sort of stop by a lot of misadventure and difficulty finding out things” (ID003, Mother of SMA-II/III).
Negative experiences were not universal. Four of 17 adults with SMA described ‘seamless’ engagement with healthcare providers, occurring in the context of structured, well-supported transitions to adult healthcare. In some cases, successful transition was also attributed to having a consistent healthcare provider throughout the process – a clinician who was well-acquainted with them and their needs; “He’s [GP] been seeing me since I was pretty young, for about 21 years … he obviously knows me quite well and knows the challenges I have” (ID013, Person with SMA-II). A strong therapeutic alliance was highly valued; “It’s pretty important to me that I’ve got a good relationship with my doctor … I have to build up a rapport before I open up to them” (ID008, Person with SMA-II).
Many participants voiced a desire for tailored, disease-specific, adult multidisciplinary clinics with a strong focus on holistic, patient-centred care co-ordination. Such clinics would also provide access to emerging therapeutic research and clinical trials; “There needs to be a specialist neurology clinic that deals with people with SMA, that understands all the issues that we have and that can effectively support people to connect with the appropriate allied health supports … the latest research, the clinical trials” (ID017, Person with SMA-I).
Perceived value of healthcare influences engagement
A perceived lack of value in healthcare strongly influenced disengagement. Ten participants described experiencing brief or superficial interactions with disinterested and unknowledgeable healthcare providers, as well as limited access to support, generating a perception that adults with SMA were not valued by the health system; “That kind of attitude is very, very reflective of what it’s like to be an adult especially with a condition that is degenerative and changes over time … they just don’t really see the value in supporting you physically to help you with better health outcomes” (ID012, Person with SMA-III). In response, 10 of the 17 adults with SMA described disengaging from doctors or health services following the transition out of paediatric care; “Anything that you needed from them, even if it was a bare minimum necessity, was difficult to get from the adult services … you would just avoid them unless you had to talk to them, because a lot of the time you just wouldn’t get a lot out of them” (ID012, Person with SMA-III). Some disengaged from recommended follow-up after attending a single appointment in the adult healthcare system, often due to a perception of futility and the need for self-protection; “No one’s going to tell you [anything] good, so why go?” (ID002, Person with SMA-III).
Variation in disease course also influenced engagement with medical professionals. Most participants with stable symptoms or less severe phenotypes (3/8 adults with SMA-II, 7/9 adults with SMA-III) disengaged from adult health services; “I felt like it was more of a functional problem, the disease wasn’t changing from year to year and I didn’t really have any questions, so I just didn’t see much point in seeing a neurologist about it” (ID024, Person with SMA-III).
Conversely, disease progression and functional deterioration prompted adults with SMA to re-assess the potential value of healthcare and actively seek services; “Then as I got older, my condition just got worse and I felt like I needed to see somebody to see if there was anything they could do to improve my condition at all” (ID013, Person with SMA-II). The possibility of accessing novel treatments, like nusinersen (Spinraza, the first approved disease-modifying therapy for SMA), was a strong motivator for re-engaging with medical care. Five of the 10 participants not accessing regular medical care reported attempts to re-engage with neurology services soon after nusinersen became available in Australia; “Only last week I looked [up] the neurologist for adults … if it wasn’t [for] Spinraza, I probably wouldn’t bother” (ID004, Person with SMA-III). Several participants did, however, express a need for greater patient-physician collaboration; “Professionals need to understand that people with SMA are the experts on SMA … because no one knows more about SMA than people that live it day to day.” (ID017, Person with SMA-I).
Daily living is dependent on disability services and community-based supports
Reliance on others for care, support and assistance with basic daily needs was perceived as vital but also as a persistent challenge, especially for participants with greater functional impairment; “I have a home carer who comes and assists me … they help me with showers and stuff, but mum still helps me with my meals and my personal care, like toileting.” (ID007, Person with SMA-III). Funding and equipment were also perceived as vital; “I was pretty well bed-bound because if I haven’t got my wheelchair, I’ve got nowhere else to go” (ID023, Person with SMA-II). Several participants acknowledged inherent disadvantages, mostly practical, when relying on external carers; “Then you’re in timeframes, so your life is very restricted and you’re in this battle of when my next carer’s coming, I’ve got to do this within this amount of time” (ID023, Person with SMA-II). In this context of high dependency, continuity of care with trusted carers was perceived as important for maintaining privacy, dignity and comfort; “I like my privacy and having a thousand different care workers is not my ideal either” (ID007, Person with SMA-III).
Large gaps in formal care were often filled by informal, unpaid support from family, friends and peers; “I do often worry about, you know, what would happen if I didn’t have, you know, like, family and that support because there’s - when your care needs are 24/7, you know, the disability support system doesn’t always cater for that. Particularly if you want to live in the community” (ID017, Person with SMA-I). Practical support provided by family and friends was, however, recognised as unsustainable over time; “As [my mum] got older, things got harder for her too. She couldn’t lift me to the bed or things like that anymore … and that’s when basically we were recommended to get carers” (ID013, Person with SMA-II). For some parents, accepting this inevitability was difficult, often due to a desire to protect their child with SMA; “With my mum and not wanting people doing my personal care, [she] knows how people live alone successfully, but no matter how many times they tell her or encourage her to let go of those ropes, she still won’t” (ID006, Person with SMA-II).
Psychological wellbeing and impact of disease
Many participants perceived mental and physical healthcare needs as equally important; “If you don’t have that mental state, no matter whether you can walk or not, it doesn’t make a difference. You will not be able to communicate with people” (ID016, Person with SMA-II).
Distress in response to changes in physical function
Participants described deep sadness in response to the loss of independence associated with declines in functional capacity; “When I have to fully rely on someone, that’s when I can see sort of, yeah, depression kicking in - when I have to ask someone to say, brush my teeth or wipe my bum or something like that” (ID018, Person with SMA-III). This was accentuated by the constant fear of further functional decline; “I think there is a process of grieving the loss of certain abilities. Then you sort of adapt and accept it and before you know it, there’s something else that you’re then experiencing the loss of” (ID017, Person with SMA-I). For some, denial was evident and served to support self-preservation amid intense fear of loss of function; “I thought that if I read [that] most SMA Type 2s, for instance, lose function by this age, that would become a self-fulfilling prophecy for me … I thought, ‘Well, I don’t want those diagnoses in the back of my mind. I’ll stay away from that and live how I want to live!’” (ID010, Person with SMA-II). Outward coping at times masked deeper feelings of sadness and loneliness; “ … well maybe I just put a front up and block it out a lot of the time … maybe I’m … not so resilient” (ID002, Person with SMA-III). Parents and partners also acknowledged their loved one’s use of denial to cope; “[My son] has lots of things going on physically that he just [pretends] doesn’t happen … He doesn’t look after himself at all” (ID011, Mother of SMA-III).
Participants conveyed the importance of recognising both the light and shade of people’s emotional experiences and wanted to be valued, not pitied by others; “… you shouldn’t assume because someone has SMA they are going to be sad and depressed because it’s coming from a judgement of, you know, that you should be, but that’s not always the case. [My son] recognises when people are pitying him and it frustrates him” (ID009, Mother of SMA-I).
Stigma and societal expectations
Stigma influenced participants’ lived experience of SMA; “I sort of prescribe to the notion that most of the symptoms of my disability are societal not medical” (ID010, Person with SMA-II). For some, cultural stereotypes of disability conflicted with what people with SMA could and wanted to achieve; “Growing up, I was kind of told that when you have a disability, people don’t really want you … We all [siblings] went to uni, but in terms of getting a job, having a family, having a house - just sort of things that people do in life - [my parents] sort of had that attitude where that’s not really going to happen for me” (ID006, Person with SMA-II). For both men and women, not being able to fulfil certain gender stereotypes led to questions of self-worth; “I’ve struggled sometimes to deal with self-worth, especially I guess being a female and having those expectations of what a woman should be able to provide in terms of like relationships, umm, and like motherhood” (ID006, Person with SMA-II).
Adversity, resilience and grit
Despite health and healthcare challenges, many participants described flourishing through a mixture of personal resilience and informal support networks. This included cultivating a sense of self-worth despite physical limitations, focusing on one’s abilities rather than disabilities, and not comparing oneself to others; “I think it’s very easy to compare yourself to what other people can do and I try not to do that. I try to focus on what I can do” (ID007, Person with SMA-III). Overcoming one’s own negative perceptions of equipment (e.g., wheelchairs and hoists), was vital to transcending or adapting to physical limitations; “The best thing that ever happened was me getting a wheelchair. At the time it was the most depressing thing ever, it was like me giving up, but then I realised the freedom that it had given me to do so many more things” (ID018, Person with SMA-III).
Self-worth, value and meaning were nurtured by seeking challenges and realising achievements; “It makes you feel, it gives you a sense of worth as well, that people you know, need you” (ID018, Person with SMA-III). Educational achievement was seen as a way of empowering people with SMA to dismantle negative stereotypes of disability; “Personally I feel like I was a high achiever … and maybe now in reflecting … maybe it’s a way of trying to overcompensate for having a disability, like really wanting to prove to myself that I am an equal or if not even better” (ID006, Person with SMA-II). For others, sustaining social and romantic relationships, or finding joy and pride in raising one’s children were highly valued; “Being a single mum and doing that singlehandedly, I think that’s my biggest achievement” (ID015, Person with SMA-III).
Vocational and recreational pursuits were also valued achievements;
“So that’s my biggest achievement - travelling and working for 7 years at my job” (ID004, Person with SMA-III). Fatigue and the burden of physical care prevented many participants with SMA from securing full-time employment; however, working from home and flexible or part-time working arrangements facilitated participation in the labour force (see Table
2). Active employment (
n = 10) or pursuit of full-time studies (
n = 5) was reported by most people with SMA, covering a diversity of professions (
Appendix 1). Six people with SMA perceived workplace discrimination or lack of adequate support in the workplace as barriers to employment; “
To try and find a job which you can do … as soon as they heard you need support, they just wouldn’t employ you”
(ID005, Person with SMA-II).
Fostering a sense of independence was also perceived as integral to positive coping; “Because I was in my 20’s and me and my mum were constantly fighting, you know, it’s a big deal when you’re in your 20’s and your mum still has to shower you … So, I just woke up one morning and said, ‘I’m ringing an agency!’ I just needed to be a bit more independent” (ID004, Person with SMA-III). As an adult with SMA, developing autonomy alongside physical dependence was described as, “being able to define for yourself how you live your life and also that you are the one that knows what’s best for you. It doesn’t mean you do things yourself, it means you’re the one who decides what gets done, and how it’s done, and you know, who does it” (ID017, Person with SMA-I).
Nurturing family and friends to support adaptation and overcome isolation
Strong, reliable networks of family and friends also supported psychological adaptation; “Well, I never personally had an issue with [mental health], but I do know people that have, mainly just because of isolation or bullying. But I had a really good circle of friends and a really good family, and I never let that sort of stuff affect me” (ID014, Person with SMA-III). Social support helped cultivate a sense of normalcy and acceptance; “To realise that people are there to help you, that was the biggest other hurdle. I used to think I was a hindrance to people” (ID018, Person with SMA-III).
Support from other adults with SMA provided comfort and inspiration; “Having someone a lot older to be sort of a peer mentor has really helped me to realise what’s possible … just like knowing, these are the types of jobs and things that they’ve done” (ID006, Person with SMA-II). Peers also offered unique practical advice; “Peer support is really important so that you’re learning from others about the sort of things that you need to know … what services are helpful” (ID017- Person with SMA-I). There was a sense of camaraderie with others with SMA and a shared understanding of the struggles experienced; “I think there’s merit in getting assistance through social workers and whatnot, but I don’t think it holds as much merit as seeking it from someone who has actually done it and lived it and experienced it … they know what I’m going through now, so there’s more of an element of trust” (ID010, Person with SMA-II).
Some participants with SMA experienced increasing social isolation due to physical limitations; “When I was 25 I wasn’t able to drive anymore. So that made me like, more isolated. Not being able to visit people at their homes. Because I can’t get up off chairs and stuff. Then I started to use my wheelchair. Then you know - I can’t get into people’s houses” (ID014, Person with SMA-III). With experiences such as these came loneliness and a yearning for social inclusion and a sense of normalcy; “I think mainly loneliness and isolation are probably the two biggest things … wanting all those normal relationships that others would have without actually having to think about how to actually arrange it” (ID023, Person with SMA-II). Despite these barriers, 17 of 19 participants with SMA described having established strong social connections and support networks with friends and peers.