Changes in daily care management of the child	“The diagnosis did not really change things, but we have made an appointment with the ophthalmologist as the gene in which the mutation is found is linked to eye disease.” (Possible diagnosis, interview 18) “Based upon the WES test results, our rehabilitation physician initiated more therapy and prescribed leg splints for the night.” (possible diagnosis, interview 17) “Our neurologist referred us to a rehabilitation physician. That opened doors. We now have a wheelchair and a special needs bike for our child.” (conclusive diagnosis, interview 2, after 6 months)
Enhancing coping process	“We accepted the fact that not much is known about this syndrome. It is our task to make the best of this situation.” (conclusive diagnosis, interview 1) “I hope science will deliver answers, but in the meantime, we have to enjoy our child as much as possible.” (possible diagnosis, interview 19) “You know, a diagnosis does mean something (...) it does not provide a solution to our problems, our child will not get better. But for the coping process (...) you can come to terms with the situation (…) you see the difference (…) S. does actually have a [clinical] diagnosis, and yes, the fact that she has to use the wheelchair once in a while is more easy to accept for us, because indeed, long distances are too tiring for her (…) you accept that, why? Because it is allowed. Because S. has a [clinical] disorder [for which the cause has not been identified yet], and she really needs the wheelchair. But actually, N. [an affected sister of the diseased child who, at the time of the interview, had neither a clinical nor genetic diagnosisa] has the same problems [in mother’s opinion], but then you start thinking: ‘Why do you [N.] want to be in a wheelchair? Is it not just in your head?’ While really, she [N.] is so tired.” (no diagnosis, interview 8)
Confirmation of being a responsible parent	“And you feel uncomfortable… or you will be more harsh towards your child. Not because you want to, but to prove to others that you are also critical, and you know, you think about all these things. And now, when there is a diagnosis, it does, it gives you a feeling of “I told you so, we were right.” (conclusive diagnosis, interview 6) “That a gene mutation is found is a confirmation that it is not our fault. You know, we struggled with the idea that maybe we did not challenge him enough when he was a baby. And moreover, he fell off the changing unit once, and I always wondered whether this fall had anything to do with his disease.” (conclusive diagnosis, interview 9)