Table 2 Illustrative quotations for Theme 1 – The Value of an aetiological diagnosis
Subject | Quotation | Participant |
|---|---|---|
Why an aetiological diagnosis is important in EDI | “I think sometimes families have real difficulties in not having an answer as to why their child has those difficulties” | 6 |
“I think it’s fair for the families if they want to know and need to know and, in most cases in my experience, they do—the why, the how, the what, and the what next…Also some of the time it allows you to remove the burden of guilt upon a family and allow them to, in some cases, they might begin to grieve, and support them through that process in a more supportive way.” | 8 | |
“There may be the opportunity to, um, provide, share with the family expectations of the pattern that we might see evolving over time, allow them to come to terms with the diagnosis, receive relevant advice or relevant support, perhaps input from um whatever clinician specific associations and support groups, and to be able to explain it better to the other family members and friends.” | 8 | |
“I think understanding the nature of the beast is a massively important thing for parents. To think about the future, to think about how to prepare for the future, and if we could get as much information that can help them do that, then all the better.” | 7 | |
“[Families] want to know the reason why their child has got their difficulties, particularly when they’re arranging school as well, because they will ask them what their difficulties are and sometimes schools don’t always recognise early developmental delay as being an actual diagnosis, and they really don’t understand, well, why they have this, when actually a lot of the time we just don’t know.” | 6 | |
“I mean some of these conditions are horrendous neuro-metabolic conditions and you would want to give the family opportunity to think about whether or not they want to have further children or do antenatal testing.” | 13 | |
Disadvantage of aetiological diagnosis | “…You can’t de-diagnose a genetic diagnosis and, erm, I'm very aware that in some parts of the world if you do have a genetic diagnosis, you don’t get health insurance.” | 1 |
[relating to a diagnosis giving prognostic information] “I think for some of those families it can be really hard as well because they are expecting something to happen and, if it doesn’t happen in the timescales, then they can find that really distressing as well.” | 6 |