Common needs in uncommon conditions: a qualitative study to explore the need for care in pediatric patients with rare diseases

Table 1 Demographic characteristics of the 12 participating families

Diagnosis	ORPHA code	Age (child)	Family composition (x)	Interviewee
ARM^a	96,346–557	1 year	M^bF^c, 3	M
Hypospadias	95,706	2 years	MF, 3	M
Complex incontinence^e	N/A	7 years	MFS^d, 4	M
ARX-related epileptic encephalopathy	182,079	9 years	MFS, 4	M
Undiagnosed^f	N/A	7 years	MFSS, 5	M
ARM	96,346–557	10 months	MFS, 4	M
FAS^g	1915	13 years	MF*, 3	F
ARM	96,346–557	6 years	MFSSS, 6	F
Epispadias	96,346	10 years	M, 2	M
Hypospadias	95,706	1.5 years	MFS, 4	M
Turner Syndrome	881	11 years	MFSS, 5	M
Methylmalonic acidemia (MMA)	289,504	2.5 years	M, 2	M

x = number of members of the family
^aAnorectal malformation; ^bM = mother; ^cF = father; ^dS = sibling; ^eComplex Incontinence; therapy resistant urinary incontinence with the need for diapers; ^fsymptoms: fever seizures, reflux, rectal bleeding, speech and language developmental delay, house dust mite allergy, cryptorchidism; ^gFoetal alcohol syndrome; *Adoptive parents

ISSN: 1750-1172