Table 1.

Participants socio-demographics and patient information

Discussions	Participant information (data for all adult patients and parents who participated in FG)			Patient information (data for all adult and children RD patients)
	Gender	Age	Education	Received RD dx	Genetic based RD
II-F	Female	29	University	Yes	Yes
FG-A-E	Female	36	University	Yes	Yes
	Female	51	Masters	Yes	Unknown
	Female	44	University	Yes	No
FG-A-F	Female	35	University	Yes	Yes
	Female	52	University	Yes	Yes
	Female	42	High school	Yes	Yes
FG-MIX-F	Female P	35	College	No	NA
	Female P	37	College	Yes	Yes
	Female P	27	High school	Yes	Yes
	Female A	33	High school	Yes	Yes
FG-P-F	Female	44	College	Yes	Unknown
				Yes	Yes
	Female	48	University	Yes	Yes
	Malea	58	PhD	Yes	Yes
				Yes	Yes
	Femalea	59	University	Same as participant above	Same as participant above
FG-P-E1	Female	53	College	Yes	Yes
				Yes	Yes
	Female	27	College	No	NA
	Female	52	University	Yes	Yes
	Female	56	University	Yes	Yes
	Female	34	College	Yes	Yes
FG-P-E2	Female	54	University	Yes	Yes
	Female	41	University	Yes	Yes
	Female	57	Not available	Yes	Yes
Total	Participants = 23 (8 adults, 15 parents)			Patients cases = 25

II individual adult interview, P parent of paediatric patient, A adult patient, F French, E English, MIX parent and adult patient FG, NA not applicable

^aIndicates a couple whose adult children are affected by the same disease as the mother.