Table 2.

Information about participants’ CDG genotype, time until a final diagnosis, and professional and social support

	Person living with CDG (N = 23)		Family caregiver (N = 151)
	n	%	n	%
CDG genotype
PMM2-CDG	7	30.4	82	54.3
GNE myopathy	14	60.8	0	0.0
Other	2	8.8	69	45.7
Time until a final CDG diagnosis
< 3 months	3	13.0	17	11.3
3–6 months	3	13.0	23	15.2
7–12 months	4	17.4	28	18.5
1–3 years	6	26.1	44	29.1
4–5 years	2	8.7	12	8.0
6–9 years	0	0	8	5.3
10–20 years	0	0	11	7.3
> 20 years	4	17.4	8	5.3
I don’t know	1	4.3	0	0.0
Receive professional support (healthcare or other)
Yes	7	30.4	67	44.4
No	16	69.6	84	55.6
Contact with other families with a similar disease (CDG)
Yes	20	87.0	128	84.8
No	3	13.0	23	15.2