Longing for a conclusive diagnosis	“The neurologist called and told us that they did not find a diagnosis. And to be honest, that was disappointing. I know this may sound strange, because on the one hand you do not want to hear that there is something wrong with your child, but on the other hand, she is still diseased.” (no diagnosis, interview 8) “On the one had I am glad that they did not find something in her genes (…) but on the other hand, we are still facing uncertainties. What is the cause? Did something happen during pregnancy, or is it something genetic? (no diagnosis, interview 10) “I hope that technology will improve in such a way, that 1 day, we will receive a definitive diagnosis. But on the other hand, if she [the child] continues to develop the way she does now, then I think we do not need to know the cause because she is doing fine right now. And therefore, so do we. But when her situation worsens, and that might happen you know, then you do want to have a diagnosis in order to prepare yourself for what might happen.” (possible diagnosis, interview 19)
Loss of hope	“On the one hand you are relieved or even happy (…) because you know the cause, but on the other hand you become aware of all the things that are not possible anymore. It is like an emotional rollercoaster (…) you realize the situation [of the child] will not change. With that muscle disease we thought ‘Well, let us give him some medication and he will improve, and something like that will not happen now’.” (conclusive diagnosis, interview 9).
Disappointment about the lack of information	“When we heard it is not mitochondrial disease, you think ‘Yay, champagne!’ (…) but this new diagnosis is too vague right now. Not much is known yet and the information we did receive is very broad and general, like ‘It might be that…or it is possible that…’ (…) there is no written information on this syndrome (…) but I want to have proof. I want to show other healthcare specialists, ‘Look here, this is what is wrong with my child’ (…) you know, I want to move forward and arrange the care my child needs.” (conclusive diagnosis, interview 2) “There is a specialist on this disease, but he lives in the United States. That is a pity (…) I think scientists are not interested in this disease because it is so rare. But I hope that 1 day, more information will become available.” (conclusive diagnosis, interview 1) “I visited our family doctor and asked: ‘Do you know what is wrong with our child?’ ‘No’ was his answer. I did not receive any information about the diagnosis. And that annoys me you know, something is found, and he knows nothing about it.” (conclusive diagnosis, interview 2)
Parents dealing with new information	“I find it hard to deal with the results. I mean they told us that [next to mutation in DNA of child] also something is found, in my [the mother] X-chromosome, but we do not know for sure whether this mutation is the cause. Nobody in our family has this disease (...) so is it just accidental? We just do not know, and that is difficult to deal with. For now, they [the clinicians] cannot give us any further explanation.” (possible diagnosis, interview 20) “One of the parents we met at the conference developed a leaflet to raise awareness about this new syndrome. I ordered some copies and distributed that within our local hospital and day-care.” (conclusive diagnosis, interview 1, after 6 months)