Abstract
Rare disease patients experience particular obstacles in accessing high quality healthcare. These obstacles include but are not limited to: (i) lack of scientific knowledge of their disease, (ii) lack of access to correct diagnosis, (iii) delays in diagnosis, (iv) lack of appropriate multidisciplinary healthcare, (v) lack of quality information and support at the time of diagnosis, (vi) undue social consequences, (vii) inequities and difficulties in access to treatment, rehabilitation and care, (viii) dissatisfaction with and loss of confidence in medical and social services, (ix) denied treatment by health professionals and (x) lack of availability of orphan drugs. Three surveys and their subsequent analysis, conducted by the European Organisation for Rare Diseases (EURORDIS), a non-governmental patient driven alliance of European patient organisations, demonstrate several of these obstacles by describing the experience of rare disease patients across 18 rare diseases and over 24 European countries as well as highlighting inequalities that exist between them.
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Notes
- 1.
Diseases included: Chron’s disease (CD), Cystic fibrosis (CF), Duchene muscular dystrophy (DMD), Ehlers-Danlos syndrome (EDS), Fragile X syndrome (FRX), Marfan syndrome (MFS), Prader-Willi syndrome (PWS), Tuberous sclerosis (TS); Countries included: Austria, Belgium, Denmark, Finland, France, Germany, Italy, Ireland, Netherlands, Norway, Poland, Portugal, Romania, Spain, Sweden, Switzerland, United Kingdom.
- 2.
Diseases included: Alternating Hemiplegia (AH), Aniridia (ANR), Ataxia (ATX), Chromosome 11 disorders (Ch11), Cystic fibrosis (CF), Ehler-Danlos syndrome (EDS), Epidermolysis bullosa (EB), Fragile X syndrome (FRX), Huntington’s disease (HD), Marfan syndrome (MFS), Myasthenia gravis (MG), Osteogenisis imperfect (OI), Prader-Willi syndrome (PWS), Pulmonary arterial hypertension (PAH), Tuberous sclerosis (TS), Williams syndrome (WS); Countries included: Austria, Belgium, Croatia, Cyprus, Czech Republic, Denmark, Finland, France, Germany, Greece, Hungary, Ireland, Italy, Luxembourg, Netherlands, Norway, Romania, Slovakia, Spain, Sweden, Switzerland, United Kingdom.
- 3.
Countries included: All MS of the EU as well as Norway, Iceland and Switzerland; OMP included: 21 orphan drugs having been market authorized for at least 6 months prior the start of the study January 1st, 2006.
- 4.
For example, for 50% of respondents affected by CF diagnosis was determined 1.5 months after the first appearance of symptoms. When including the 25% of respondents with CF that experienced the longest delays, the median increased dramatically, to at least 15 months of delay following the first appearance of symptoms (Table 14.1).
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Kole, A., Faurisson, F. (2010). Rare Diseases Social Epidemiology: Analysis of Inequalities. In: Posada de la Paz, M., Groft, S. (eds) Rare Diseases Epidemiology. Advances in Experimental Medicine and Biology, vol 686. Springer, Dordrecht. https://doi.org/10.1007/978-90-481-9485-8_14
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