What, if anything, is specific about having a rare disorder? Patients’ judgements on being ill and being rare
Bibliographic Data
| ID | 19508736 |
|---|---|
| Authors | Caroline Huyard (0000-0002-7454-7039, Institut d'Etudes Politiques de Paris, corresponding author) |
| Year | 2009 |
| Volume | 12 |
| Issue | 4 |
| Pages | 361-370 |
| Publication date | 2009-12-01 |
| Open Access | Yes |
| Type | ARTICLE |
| Venue | Health Expectations (JOURNAL) |
| Journal identifiers | ISSN: 1369-6513 • E-ISSN: 1369-7625 |
| Publisher | Wiley (PUBLISHER • GB) |
| DOI | 10.1111/j.1369-7625.2009.00552.x |
| PMID | 19840131 |
| OpenAlex | W1985567734 |
| Language | EN |
| Citations received | 20 |
| References cited | 10 |
Background Growing efforts are made to improve the situation of persons with rare diseases, but the specific nature of these disorders remains unclear. Objectives To establish (1) to what extent people with rare disorders think that their disease’s rarity causes particular difficulties, (2) to what extent these difficulties relate to other causes than rarity (i.e. other characteristics of the disease or other components of the illness experience), (3) to what extent the rarity of the disease may relate to components of patients’ experience other than those that are traditionally addressed (i.e. personal or daily life aspects). Methods Semi‐structured interviews with 29 patients and 15 parents of children with one of six rare diseases (cystic fibrosis, fragile X syndrome, Wilson’s disease, mastocytosis, locked‐in syndrome and a sixth syndrome). The interviews were conducted in France. The analysis draws on French pragmatic sociology and focuses on the participants’ judgements of their experience. Findings The participants considered as normal and acceptable a range of situations that are often viewed as specific to rare disorders and unfair. This rather positive evaluation was conditional on some specific moral criteria being met. The participants attributed the cause of their difficulties to the failure of health professionals to meet these criteria. In the participants’ experience, disease‐related associations play a key role and rarity seems to contribute to making them especially important. Conclusions Patients’ experience would be considerably improved if health professionals more often fulfilled their moral expectations, especially regarding diagnosis disclosure and information. (250 words)
Disease · Health care · Health professionals · Pathology · Rare disease · Cystic Fibrosis Research Advances · Genomics and Rare Diseases · Immunodeficiency and Autoimmune Disorders · Medicine · Psychology
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| Citations per year | 1.67 |
|---|---|
| Citation span | 2014 - 2025 (12) |
| Highly cited | No |