Loss of peer support networks

“I was really active for [patient organization]. Yeah really focused. But now this moves to the background a bit. I think that is a pity. With regard to our new diagnosis, not many people have this disease. The neurologist told me that there are only two other patients with the same diagnosis here in the Netherlands.” (conclusive diagnosis, interview 1) I am no longer active on that forum, but I still read the stories of other parents once in a while. And it is still informative as we share the same concerns and struggles (…) but I feel, or I doubt, whether the other parents still want me there (…) I try not to respond as much as I did before because our child has a less severe prognosis now. And maybe the other parents do not like that.” (conclusive diagnosis, interview 5) “I could of course ask whether there are more children within our patient organization who have a mutation on the [name of gene], but there is no point in doing that. I already know that nobody knows this gene. That is the situation we have to deal with.” (possible diagnosis, interview 19) “We do not have a name of a syndrome for which we can fight, by raising funding for example. Other parents do. And then, yeah, then you have your back against the wall.” (possible diagnosis, interview 19)

Establishing relations with new peers

“I googled and there is indeed a forum, of course, very very small as it concerns a new syndrome, but I do not feel prompted to respond or share my story. I want to highlight the positive and the forum focuses on the negative aspects. (conclusive diagnosis, interview 2) “For this syndrome we found a forum hosted by people from the United States. I am not active [on the forum] as I find the English language difficult (.) The forum is useful to receive suggestions (...) and we see physical similarities between our child and theirs. Although seeing these similarities is not exactly a nice feeling, but that’s what it is.” (conclusive diagnosis, interview 5)