Table 1.
Overview and details of included studies
| Reference | Country | Diagnosis | Sample | Age range | Methodology |
|---|---|---|---|---|---|
| Barlow et al. (2007) | UK | Hemophilia | 9 | 28–84 years | Thematic Content Analysis |
| Brodin et al. (2015) | Sweden | Hemophilia | 14 | 19–80 years | Phenomenological approach |
| Budych et al. (2012) | Germany | Amyotrophic lateral sclerosis, Duchenne muscular dystrophy, epidermolysis bullosa, Marfan syndrome, neurodegeneration with brain iron accumulation, Wilson's disease | 73 | Adult patients (age not specified) | Grounded theory |
| Caputo (2014) | Italy | Amyotrophic lateral sclerosis, anorectal atresia, Poland syndrome, idiopathic pulmonary hypertension | 32 | Adult patients (age not specified) | Narrative‐based (Emotional text analysis) |
| Diesen (2016) | Norway | Phenylketonuria | 11 | 20–30 years | Grounded theory |
| Diesen et al. (2015) | Norway | Phenylketonuria | 11 | 20–30 years | Thematic analysis |
| Dures et al. (2011) | UK | Epidermolysis Bullosa | 24 | 21–89 years | Inductive thematic analysis |
| Frank et al. (2007) | New Zealand | Phenylketonuria | 8 | 31–43 years | Grounded theory |
| Garrino et al. (2015) | Italy | Scleroderma, Horton's disease, mixed connective tissue disease, Addison's disease, Bechet's disease, Gaucher's disease | 22 | 21–79 years | Phenomenological approach |
| Gibas et al. (2008) | Canada | Fabry disease | 51 female patients | 22–78 | Grounded theory? (not specified) |
| Grut and Kvam (2013) | Norway | Rare congenital medical diagnoses (not specified) | 94 (51 adult patients) | 20–70 years | Thematic analysis? (not specified) |
| Huyard (2009) | France | Cystic fibrosis, fragile X syndrome, Wilson's disease, mastocytosis, locked‐in syndrome and a sixth syndrome (Very Rare Syndrome) | 29 | 20–47 years | French pragmatic sociology |
| Jaeger et al. (2015) | Sweden | Artrogryposis multiplex congenital, dysmelia, 22q11 deletion syndrome, Klinefelter syndrome | 38 | 17–69 years | Content analysis |
| Kesselheim et al. (2015) | USA | Tuberous sclerosis, Phelan‐McDermid syndrome, hemophilia, pulmonary artery stenosis | 9 | Adult patients (personal communication with first author. Age not specified) | Grounded theory |
| Limperg et al. (2016) | Netherlands | Hemophilia | 12 | 16–30 years | Thematic analysis |
| Nilson et al. (2012) | Canada | Hemophilia | 18 | 18–30 years | Constant comparative method |
| Palareti et al. (2015) | USA and UK | Hemophilia | 19 | 18–70 years | Bottom‐up thematic analysis |
| Petersen (2006) | Australia | Cystic fibrosis, hemochromatosis, hemophilia, thalassemia | 21 | Adult patients (age not specified) | Thematic analysis? (not specified) |
| Smith et al. (2014) | Canada | Hemophilia | 32 | 40–77 years | Thematic content analysis |
| Vegni et al. (2010) | Italy | Phenylketonuria | 20 | 18–25 years | Interpretative methodology |
| von der Lippe et al. (2016) | Norway | Fabry disease | 10 | 24–77 years | Inductive thematic analysis |