Participants were aged between 16–61 years when they received their diagnosis. All had undergone MRI to explore incidental clinical presentations including seizures, injury, chronic headaches, anxiety and autism. Reporting of their diagnosis by medical professionals was generally regarded as insensitive and unsatisfactory. Being told that they had a hidden ‘birth defect’ in their brain, which was subsequently trivialized or dismissed, brought a range of responses that increased their uncertainty and anxiety about the condition.
Theme 1: Reactions to the diagnosis
The first theme centred on the reactions of participants and others, to the confirmed DCC diagnosis. For participants who had experienced unexplained lifelong challenges, the diagnosis marked a significant point in their lives. They were optimistic that such an irrefutable diagnosis would elicit compassion from others, enabling improved access to support and understanding. To the contrary, many encountered judgmental attitudes, indifference and hostility. They described the challenges of having to process their own reactions in addition to the unexpected reactions from family, peers, colleagues, educators and employers.
All participants were unaware of their DCC prior to incidental, investigative neuroimaging. The discovery that a significant part of their brain had been missing since birth prompted a variety of reactions including surprise, confusion, dismay, anger and shock:
Yeah, when they said that this part of my brain was missing I thought, ‘What? What part of my brain’s missing?’ You know? I just had that sort of bobbing in my head. It was just crazy. I felt shocked that I didn’t have part of my brain there and not knowing that I didn’t know that part of my brain wasn’t there. (Robin)
I was enraged that in 53 years nobody had told me something that’s an explanation for so many things in life since birth… I was angry and I was (long pause) I was sort of taken aback and thought, ‘Does it mean I’m mad? Does it affect your cognitive abilities? Does it affect your intelligence? Does it mean I have low IQ? Would life have been different without it or would life have been different had I known I had it? (Leigh)
Some described feeling relieved and validated after discovering a reason for lifelong, unexplained social, cognitive and physical difficulties, expressed by Simon as, ‘It shows how much I’ve had to overcome.’ Although the majority expressed a strong belief that the DCC had caused the difficulties, one participant identified associated traits as possibly connected but more likely to be coincidental:
Well, I consulted Dr Google … the symptoms appeared to be from nothing, almost nothing, which is me, to people who had very severe effects. Looking back, well of course you can ascribe all sorts of things to it. There’s a range of things there but not enough to draw any strong conclusions. (David)
All the diagnosing clinicians admitted that they had no prior knowledge or experience of DCCs. Clinicians consulted search engines during the consultation or advised participants to go home and do their own internet research. Others were told to ignore the diagnosis as there was nothing that could be done about it. Participants expressed dissatisfaction with the delivery of their diagnosis due to misinformation, a lack of knowledge and insensitivity demonstrated by the clinicians:
He told me that I've got this thing. He said, “I don't know what it means.” … He turned his screen around so we could see what came up on Google … It was sort of like, don't worry about it because there's nothing we can do about it anyway but I did worry about it because I had other diagnoses at the time. I wondered if that was somehow related. (Shannon)
Although surprised by the lack of professional understanding, participants expected family support. Shannon described support from a sister:
I have a sister and we were always pretty close. I think she was pretty supportive of me as a kid and later as well. She’s not changed, since the diagnosis. I think she might have a bit more understanding but I think my whole family didn't really know what to do with the information.
Conversely, most participants expressed disappointment in family members’ reactions. They reported that some family members used the diagnosis to humiliate, exploit or dismiss them:
It [DCC] was always thrown in my face when there were issues. It was always thrown in my face and I was put down. People talked behind my back. I knew it and felt embarrassed by it. I felt really upset about it for a long time. I couldn’t talk about it. (Ash)
Mum made me Power of Attorney. Anyway, my sister wanted to take over from me and have me declared ‘unfit.’ She talked to my doctor and my doctor said to me afterwards, “Don’t ever let her know you’ve got this ‘thing’ because she’ll use it against you.” (Leigh)
Mum just said, “It’s bullshit. Just forget about it,” because what you didn't understand you just put aside and didn’t think about. (Leigh)
Participants expressed difficulties in deciding whether to share their diagnosis and with whom. Some regretted entrusting a friend or employer with details of their diagnosis. For example, Leigh described people’s reactions when sharing the diagnosis as ‘just glazing over.’ Participants repeatedly described feeling patronised, dismissed or inadequate and believed that people’s comments invalidated the diagnosis, as summarised by Claire, ‘Everybody I meet, they all say, “But you’re normal, you’re bubbly, you’re outgoing.”’
Participants were re-evaluating their lives. They wondered how a DCC had affected their opportunities for social inclusion, quality education, meaningful employment and successful personal relationships. These impacts are explored in the second theme.
Theme 2: Access to supports and key life domains
The second theme relates to findings associated with access to key life domains. Chronic failure to access domains of education, employment, physical and mental health and social inclusion was evident. The range of issues and obstacles encountered illustrated the heterogeneity of DCCs. Participants reported a range of associated comorbidities and deficits which were identified as impacts of DCC requiring support. They expected that receiving an irrefutable diagnosis would create greater access to supports and inclusion.
Access to supports and inclusion
Nevertheless, most participants reported frustration and chronic failure when trying to access systemic health, disability, educational and financial supports. Negotiations were described as arduous, stressful and futile. Descriptions of mental health issues included anxiety, depression and/or suicidal ideation:
I am diagnosed with anxiety, depression, suicidal … I’m not coping well. I’ve fallen down the hill. The council have handballed me to the NDIS [National Disability Insurance Scheme]. The NDIS have handballed me back. There’s a group that are trying to advocate for me but they're all about just getting money from the NDIS and handling the money. (Leigh)
I had a nervous breakdown. I was assigned some caseworkers because of my situation, I had to go through the children's court through those two years. They thought that I'd never have my kids back. (Kim)
David indicated that it had little effect and supports and management were not required, ‘It hasn't made any difference to the sorts of things I’m able to do or the perceptions I've had or the things I enjoy.’ To the contrary, the majority of participants expressed the need for effective, ongoing, practical and social support:
I'd like a caseworker. Somebody who can check on me from time to time just making sure that I'm doing what I'm supposed to be doing. I would say it's pointless applying for the NDIS. (Kim)
I would love to have it [support]. Yes. Even if someone could come here and either drag me to the place or there’s someone that comes to the home. I’ve got no professional support. I’ve got my daughter’s support and that’s it! (Ash)
Barriers to support included the paucity of research, participants’ self-professed lack of social sophistication and professionals’ insufficient knowledge of DCCs. Leigh indicated that not one of her health professionals had ever heard of DCC. She described feeling like she was drowning and had no direction:
It’s like being given a magic box but there’s a trick to opening it and you don’t have the trick but it does affect me and I feel like I’m in a forest and I can’t see anything, just darkness and trees. I don’t even have a direction to go in with it.
Misunderstanding social cues and not being able to keep up with peers were reported by most participants. They recalled difficulties making and keeping friends. Anxiety, miscommunication and sensory issues were mentioned as social inhibitors. All participants identified examples of social isolation, teasing or bullying during their school years and felt that this had generally continued into adulthood:
I wasn’t socialising with the other kids. I was choosing to play in the playground by myself. (Shannon)
I’ve been bullied all my life, being bullied again and again and not fitting in. Being bullied by some of the lecturers and some of the students, you know, just being completely isolated. (Claire)
Family relationships, both positive and negative, played a key role in the lives of all participants. Participants referred to physically and sexually abusive relationships with family members. Some were excluded by family members.
I was always the kid that was a bit on the outer, never fully part of the group. You're a target for bullying, although the worst bullying was from one of my relatives. (David)
Conversely, others felt that their family members actively assisted them to seek social opportunities and provided much of their companionship. Most identified one person in their family who provided ongoing support and assistance but others reiterated that they constantly felt alone, didn’t belong and did not have close friends. Mothers were mentioned frequently. Some were described as supportive. For example, Simon described support in gaining employment, ‘Getting a job? Again, Mum knew someone who was doing it and they sort of got talking one day.’ Conversely some participants provided examples of mothers compounding issues:
I've always got Mum in the back of my head. She's always there telling me not to do this and not to do that. (Claire)
My adoptive mum kicked me out of home because I was corresponding with my birth mum and she didn’t like it. I wasn’t the perfect child so she would scrap me and focus on my sister. (Kim)
Belonging to a community had presented some long term obstacles. Key barriers included difficult family relationships, being regarded as ‘different’ or ‘weird’ and not understanding social expectations. Not being accepted or ridiculed for being different were exemplified by Claire:
I was never invited to birthday parties and things. That’s why I never truly felt part of the group. I always felt that I'm on the outside looking in as opposed to truly being included … a little bit of bullying in the playground, like kids pulling up my dress and pulling down my undies sort of thing. A little bit of, ‘Oh, she’s strange,’ and whatever. That was horrible. (Claire)
Participants believed that the impacts of DCC had affected their capacity to gain employment and adequately support themselves. More than half relied on a government Disability Support Payment (DSP), regarding it as inadequate to establish an acceptable quality of life, raise a family or access local and wider communities. Some had been hopeful about the implementation of the NDIS. They had applied for support but had been rejected. One who was successful felt pressured to accept minimal supports that did not appropriately meet their DCC needs. Others had given up because they had insufficient documentation to make an application. Although NDIS focuses on functional impacts, gaining access includes stating primary disabilities which are matched to lists. DCCs are unrecognised by the scheme and do not appear on any lists. Difficulties with self-advocacy were illustrated by Shannon:
My problem is that I don’t know what support I need. I don’t know what help I need. That is the problem right there. I don’t know how to sell my point of view in a way that makes it connect.
Access to Education
At the time of diagnosis most participants had completed formal education. More than half the participants had repeated at least one year level. They believed their education experiences influenced their current position with some reporting feeling inadequate and inferior. They described problems with communication, anxiety, isolation and negative reinforcement as key educational obstacles. Low expectations from educators and family members had also hampered their academic achievements. For example:
The teacher said to Mum and Dad, “There’s no use this child even doing maths. She’s mathematically illiterate. She’ll never learn a thing.” (Leigh)
Someone could explain something to me until they’re blue in the face. Mum got frustrated at telling me what I had to do over and over and over and over again. I’d study hard and try really hard but nothing would sink in and I knew something was not quite right. (Kim).
In contrast, others described support from parents and teachers to pursue goals. Half the participants had completed a university degree and expressed the belief that they had achieved academic success through developing strategies of perseverance and resilience to overcome obstacles. Claire reported being set up for failure:
Everybody was trying to build me up for failing and I didn’t want to fail. I wanted to pass. I wanted that bit of paper.
Although Claire persevered and achieved a university entry score, she felt that ensuing ‘congratulations’ were patronising and laced with incredulity and disbelief:
The school counsellor involved was my next door neighbour … She was amazed and shocked and still is, at how well I’ve done. They are meaning well but it’s like, she doesn’t know the half of it! It was horrible! I remember describing it like being a piece of string being pulled in every imaginable direction at once and through the dirt (Claire)
Access to employment
Learning difficulties and poor educational attainment affected participants’ capacity to gain meaningful employment. Three participants were engaged in paid employment and felt that their determination to complete educational goals had enhanced their employability. David had a long career employed in a senior position. However, he described difficulties with interpersonal engagement at school and in the workplace:
One of the issues is that they [adults with DCCs] have difficulty with finding employment and if they do find it, they have trouble maintaining it …. One of my areas of weakness was probably interpersonal skills and the higher you go the more important they, apparently, are… I was shaped by my experiences at school. I had difficulty getting on with other kids.
Some participants had either ceased or never participated in paid employment, citing lack of skills, anxiety, poor educational outcomes and lack of supported opportunities. Ash described being actively discouraged by employment agency staff:
I said, ‘Look, I need a job. I need you to help me get into a job.’ She was looking at me, she was looking at all my work, my scan and everything and she said, “You know, you don't have to work for a day for the rest of your life.”
Participants believed that an earlier diagnosis and better educational outcomes would have led to greater employment opportunities. Those who had been employed expressed some difficulties keeping up with demands of their jobs. Disclosure of their DCC had worsened the situation with unwarranted consequences including negative attitudes, demotion and bullying. They described bullying by both employers and colleagues:
I've been bullied all my life. I try and talk to bosses about things and particularly about my brain and I'm almost in tears and trying to keep the lid on it. I had issues with employment. In fact, that whole period is all kind of traumatic for me, the way I was handled and treated and everything … It’s such a toxic environment that I’m in. (Claire)
Ongoing obstruction to accessing to key life domains leads to the third theme, which describes the impact on participants’ identities as adults.
Theme 3: Identifying as an adult
The third theme explores findings related to identity. Identity refers to the self and the expression of individuality as one navigates through the tasks of daily living (Leary and Tangney, 2012). Participants self-identified as independent adults, people with a hidden disability and members of society.
One participant felt that a DCC had minimal impact on their identity as an adult. In contrast, other participants found adulthood challenging and expressed feeling immature and facing ongoing difficulties fulfilling societal expectations. They described their struggles to be adults:
I don’t know how to ‘adult.’ I’m having a really hard time. It’s the ACC, 100%. I’m feeling really sick about it. I feel like I have to do it because I am the adult of the household. (Ash)
I see myself as being quite immature when I started uni. I knew that I was… I think socially, I was also immature and probably am now and probably always will be. (Shannon)
Although some participants were parents, in relationships or had paid employment, they expressed difficulties with demands of adulthood. They felt they were not adequately equipped to meet the responsibilities and societal expectations of independent living. Problems with organising finances, household management, maintaining relationships and raising children were exemplified. Some stated that they were confident with managing finances, while others experienced problems and had family members helping them:
Just the one thing that I am finding really hard right now, being an adult with ACC, is the coping with the bills and putting everything together. Sometimes I get my daughters to help me out and they go, “Yeah but you gotta do it. You can’t neglect it.” I actually did neglect all my bills at one stage. (Ash)
Restricted mobility featured as a barrier, undermining capacity to be an independent adult. The majority of participants could not drive. Some had failed repeated attempts to secure a licence. Of those who could, most took extra precautions such as driving at quieter times. Not driving reduced access to services and exacerbated social isolation, particularly for single parents. Participants outlined obstacles to adult responsibilities such as shopping, employment, social activities and transporting children:
We were out the door at 7:30. And then I'd start. I'd walk. I'd walk all the way up [street] to the school. It's about eight ks there and I'd walk that twice a day, well, four times. There, back, there, back and I remember that hill with a stroller, a double stroller with you know, [child] in those little, um, pouch things, going up that hill. (Kim)
Some participants found sustaining adult relationships with partners and family members problematic. Although they had developed resilience, they needed support that wasn’t readily available. The majority of participants described ongoing anxiety, depression and experience of episodic mental illness and/or suicidal ideation. Although some felt they were in stable relationships, most stated that they would like more support. All participants reported degrees of bullying and/or abuse at school, in the workplace or in the home. Bullying had destroyed confidence and self-worth. Abuse was verbal, emotional, physical and sexual. For some, this abuse had ceased after childhood but for others it continued into adulthood. Kim shared her experiences:
He was an abuser. Beat up, you name it, abused the kids, abused me. Yeah, we’re talking nasty. Broken bones…
Participants mentioned oscillating between feeling ‘normal’ and ‘not normal.’ They were required to function and conform to socially constructed expectations but were ostracised because of differences which had no visible cause or reason. Ash explained the confusion of hidden disability. ‘If my brain was on the outside you still couldn’t tell because you have to split the brain in the middle to see that don’t you?’ Claire described the difficulty of operating in the two realms as, ‘My soul’s been laid bare and then I've got to just flip a switch and I'm ‘normal’ again.’
Participants embraced their rare diagnosis. It finally gave reasons for behaviours and impacts. They recognised differences in themselves which were not readily understood by others. Some expressed resentment at the years of mismanagement and the lack of control of ‘ownership’ of their lives because others had dictated how they should factor any deficits into their identity. Although they were grappling with its meaning, they regarded their diagnosis as an important part of their identity:
If all of my problems are due to ACC and it's this physical thing that I can't change, it's like part of who you are as an individual, this problem that you've got to solve ... It makes me an individual but I see those problems as problems that need to be solved. There’s a dichotomy between the two because those problems are probably what it means for me to have ACC and that makes me who I am. I'm having trouble making the two coexist. (Shannon)
All the participants indicated that DCCs needed greater recognition, acknowledgement and support. Although they spoke of developing resilience and coping strategies, they identified many obstacles. Living with an invisible, under-recognised and largely unsupported condition had affected their inclusion and identity:
Yeah. As Mum said, “You're a trailblazer. You're a pioneer.” I'm sick of being a pioneer! It's really stressful. Listen to us because we all are affected. There are some commonalities but we are also affected in individual different ways. Listen to us. (Claire)