Table 2 Summary of pre and post survey responses

What made you decide to respond to our invitation to participate in this project?

22 responses (pre-discussion)

Fourteen participants stated they decided to participate as they wanted to help improve knowledge of the disease and help find a cure. Two people were specifically interested in genomic research [P6, P9], and one person reported they were ‘researching themselves’ and their sons’ genomic variations [P5].

What do you hope to get out of participating in this discussion? Do you have any specific expectations?

20 responses (pre-discussion)

Four participants wanted to ‘learn more’ [P16]. Five participants stated they wanted better outcomes for patient care and treatment protocols, with three participants stating they wanted to be actively involved in helping research to improve outcomes. Two participants wanted to hear the perspectives of others. Five participants stated they had no expectations.

Do you have any ideas about how the different people could influence future research?

19 responses (pre-discussion)

One participant stated that people with a rare disease and their families are ‘likely to have different priorities from scientists’ [P16]. Another suggested that ‘sharing patient experiences, priorities of research areas’ and involving people in co-defining ‘ultimate patient outcomes’ were ways people could influence research [P21].

Is there anything in particular you liked or thought was helpful about how the discussion was conducted?

8 responses (post-discussion)

One participant said they ‘enjoyed the interaction, helpful links with information about genomics and the topic threads’ [P21]. Another added they liked ‘being able to read others thought processes on each topic’ [P3]. Others said ‘the responses to mine were timely and provoked further questions that made me think in new directions’ [P25]. Two participants said that ‘having different topic questions/threads was helpful’, as was the ‘information provided to start’ of some threads [P29]. One participant added that ‘it was great because even though busy with my son’ they could travel and ‘still catch up and learn things and do my input too’[P30].

Is there anything you didn’t like, thought was unhelpful or could have been improved about how the discussion was conducted?

4 responses (post-discussion)

Only two participants provided answer for this question other than ‘no’. One participant stated ‘I didn’t like the platform it was conducted on’ as it was not ‘user-friendly’ [P15]. Another added that sometimes facilitators ‘added another question too quickly before a number of people had a chance to answer the first one’ which risked leaving ‘some people behind’ [P3].

Did you have any expectations from participating in this research that were met or not met?

8 responses (post-discussion)

One participant stated that they wanted to ‘learn more about the difference of the gene and genomics and that was met’ [P30], and three others stated their expectations had been met, with none reporting they had not.