Table 2 Main themes, and their sub-themes, identified as central to the support needs of parents of children with Usher syndrome aged 0 to 5 years

a) Sharing lived experiences with other parents of children with Usher syndrome reduces isolation and loneliness

“There's that intangible support of sitting with others that have walked in your shoes and it's that opportunity to talk with others that understand that you will not get anywhere else.”

b) Support groups as facilitators for connection

“I just think it's so invaluable. So, there is the shared information that is important that comes through that, parents often just say ‘I didn't know anything about that’. Everyone scribbling everything down, especially when it comes to NDIS … So, there's actually practical… information about the system and how to get what you need. You don't even know what you need until you hear someone else saying ‘this really worked for my child.”

c) Pre-existing relationships did not provide sufficient support

“I also remember thinking about my really close friendships … and none of them reached out, I was reaching out to them, saying, ‘I am going through the hardest thing I've ever gone through in my life, and I really need you here because this is beyond devastating, and overwhelming’ … I think they were all scared.”

2. Informational Needs

a) Accurate and timely information regarding diagnosis may relieve emotional distress

“[We] would have been able to socialize with families in the same situation… [] would have been absolutely invaluable because that would have provided support."

b) Parents needed to be provided with greater knowledge and information by professionals

“I think you want to know what is Usher Syndrome? What are the different elements? What are the issues? What are the general expectations of Usher Syndrome? Certainly, that was something that we didn't get from the ophthalmologist or even genetics. Really the information [I have] was by doing my own research.”

c) Parents required information to locate professionals with adequate knowledge and training

"You spend a lot of time teaching the professionals that are engaged in the care of your child what the condition is and what the condition means, and that puts a lot of pressure on parents to be up to date with the information and managing the caseload like it is, like literally, a case worker job."

d) Parents needed additional information on vestibular dysfunction

“If there had been some better understanding of the processes that could assist [child’s] vestibular needs, then it would have taken a lot of time, effort, guesswork and money out of what we were trying to do for him.”

e) Need for various sources of information

“Links to websites and handouts [would have supported me in] a state of shock or anxiety”

3. Practical Needs

a) Respite allowed parents to recharge and better support their families

"I was beyond exhausted and so that impacted everything…. I obviously had to work and so then just managing work with appointments. We're still getting the early intervention service, so there were those appointments. And all of that led to being beyond exhausted and then needing some psychological help. So the practical needs you often neglect because you're just running on empty and you don't know how to fix it. You are just too exhausted to try and fix it."

b) Case coordination and collaborative care can remove burden from parents

”It's just keeping the headspace to be on top of everything and knowing when you've got to go back for different appointments and what follow ups need to be done and just kind of being a caseworker for your child. So, if there's somebody else kind of doing that paperwork stuff and just making sure the appointments are happening and they're in the right order with the right people so you're not wasting time, sort of jumping from service to service, then that would be a really significant support for people.”

c) Flexibility in employment options support parents in caring for their child/ren

“I’m very lucky that I work for myself so that I’m able to [continue working]. I can tell you that probably from 0–5 (years), I wouldn't have been able to have a job. Because of the number of appointments and just trying to get her ready for school because she was diagnosed so late, and she wasn't implanted until she was two. There was so much catch up to do to make her ready to start school on time.”

d) Financial support may relieve burdens associated with complex care needs

“Parking vouchers, petrol vouchers or transport vouchers [would support] getting to numerous appointments… for each appointment you attend that's $30 to pay for parking and you're going to have to take at least half a day off work.”

4. Emotional Needs

a) Support required to cope with grief and loss

“I wanted a counsellor who had experience with grief and loss associated with disability, who could understand … chronic grief and chronic loss. Someone who has enough experience with parents (of children) with disabilities that can … get to the crux of it, which is accepting an unexpected situation, accepting that it's really hard and everything that you're doing will probably be hard for a long time. That can reflect back and then really employ … psychological tools as needed for that person's level of grief, anxiety, depression, whatever it is…I would love to have met someone like that.” 

b) Confronting emotions regarding child’s progressive vision loss

“Yeah, so I think understanding that the vision is going to be a long-term area of difficulty regarding that grief cycle. It's one that you're going to come back to…I think everything is fine but then their vision might drop off.”