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Listening to patients with rare diseases
Editorial
Listening to patients with rare diseases
See Perspectives page 888
For the EURORDIS book see http://www.eurordis.org/article. php3?id_article=1960\
On March 3, EURORDIS, the European umbrella organisation for patients with rare diseases, published The Voice of 12,000 Patients. The book summarises the results of two surveys (EurordisCare2 and 3), which explore the experiences of patients with 16 rare diseases in 22 European countries. Diseases chosen were dependent on existing patient organisations and included, for example Ehlers-Danlos syndrome, fragile X syndrome, and Prader-Willi syndrome. The findings should give pause for thought. To arrive at the correct diagnosis, patients often had to seek answers on their own with little help from the health-care system. 25% reported waiting between 5 and 30 years for a diagnosis. 41% were initially misdiagnosed resulting in inappropriate medical and psychological interventions and detrimental consequences, such as attribution of actual disease symptoms to misbehaviour or imagination. For example, 20% of patients with Ehlers-Danlos syndrome had to consult more than 20 physicians to get the correct diagnosis. Overall, this delay led to a loss of confidence in the health-care system in 19% of all survey participants.
Once a diagnosis was reached, 35% felt that it was announced in “poor or unacceptable conditions”, such as diagnoses given in hospital corridors, by telephone, and in writing only. For their care, patients needed on average nine different medical services, which were often poorly coordinated, and 26% reported difficult or impossible access to services with lack of appropriate referral as the greatest barrier. Perhaps the most chilling finding is that 18% experienced rejection by a healthcare professional because of disease complexity or associated symptoms. Patients with rare diseases need a sensitive, well organised, and humane health system. When common diseases do not fit a patient’s history, listening to and believing patient narratives is more important than a schematic guideline-driven approach to diagnosis. Treatment needs to be coordinated. Research and data collection should be pooled at national or European level. The patients have spoken. Health-care professionals need to listen and firmly take the lead to improve the experiences of this group of patients. ■ The Lancet
Photolibrary
Shining a spotlight on glaucoma
For more on World Glaucoma Day see http://www. worldglaucoma.org For more on the main causes of visual impairment see http://www.who.int/blindness/ causes/priority/en/ For a previous Lancet paper on primary open-angle glaucoma see Seminar Lancet 2004; 363: 1711–20
868
March 12 was World Glaucoma Day, aimed at promoting awareness of glaucoma as a leading cause of preventable blindness worldwide. It affects nearly 70 million people and is projected to increase by another 20 million by 2020. Most patients with glaucoma remain undiagnosed because symptoms are not present until late progression. Glaucoma is a group of progressive optic neuropathies that lead to severe restriction of the visual field and irreversible blindness. Risk factors include raised intraocular pressure, increasing age, and genetic predisposition. Little is known about primary prevention. Although difficult to detect, regular comprehensive dilated eye examinations of at-risk individuals are essential since early detection offers the opportunity to treat with pressure-lowering drugs and surgery, which can stop onset and slow disease progression. Left untreated, vision loss and blindness are permanent. In high-income countries, there are substantial efforts to support glaucoma research and industry has a key role. However, not in the developing world, where the risk
of blindness from glaucoma is highest with more than 95% of those blind from glaucoma originating from Asia and sub-Saharan Africa. Poor treatment access, lack of compliance with follow-up care, and high treatment costs together with the lack of trained ophthalmologists result in poor management of glaucoma. There is an urgent need to find solutions appropriate to these settings. The recent inclusion of glaucoma as an immediate priority in Vision 2020—a global initiative to eliminate preventable blindness by 2020, and WHO convening the first international meeting in April on glaucoma, suggest the condition is gaining a higher profile and traction. Nevertheless, better education is needed to raise glaucoma awareness. The medical community needs to provide improved training to detect the condition early and governments should acknowledge glaucoma as a national priority and mobilise appropriate resources including early screening. The cost of unnecessary sight loss both to the individual and wider society is enormous, and in glaucoma, preventable. ■ The Lancet www.thelancet.com Vol 373 March 14, 2009
Listening to patients with rare diseases
See Perspectives page 888
For the EURORDIS book see http://www.eurordis.org/article. php3?id_article=1960\
On March 3, EURORDIS, the European umbrella organisation for patients with rare diseases, published The Voice of 12,000 Patients. The book summarises the results of two surveys (EurordisCare2 and 3), which explore the experiences of patients with 16 rare diseases in 22 European countries. Diseases chosen were dependent on existing patient organisations and included, for example Ehlers-Danlos syndrome, fragile X syndrome, and Prader-Willi syndrome. The findings should give pause for thought. To arrive at the correct diagnosis, patients often had to seek answers on their own with little help from the health-care system. 25% reported waiting between 5 and 30 years for a diagnosis. 41% were initially misdiagnosed resulting in inappropriate medical and psychological interventions and detrimental consequences, such as attribution of actual disease symptoms to misbehaviour or imagination. For example, 20% of patients with Ehlers-Danlos syndrome had to consult more than 20 physicians to get the correct diagnosis. Overall, this delay led to a loss of confidence in the health-care system in 19% of all survey participants.
Once a diagnosis was reached, 35% felt that it was announced in “poor or unacceptable conditions”, such as diagnoses given in hospital corridors, by telephone, and in writing only. For their care, patients needed on average nine different medical services, which were often poorly coordinated, and 26% reported difficult or impossible access to services with lack of appropriate referral as the greatest barrier. Perhaps the most chilling finding is that 18% experienced rejection by a healthcare professional because of disease complexity or associated symptoms. Patients with rare diseases need a sensitive, well organised, and humane health system. When common diseases do not fit a patient’s history, listening to and believing patient narratives is more important than a schematic guideline-driven approach to diagnosis. Treatment needs to be coordinated. Research and data collection should be pooled at national or European level. The patients have spoken. Health-care professionals need to listen and firmly take the lead to improve the experiences of this group of patients. ■ The Lancet
Photolibrary
Shining a spotlight on glaucoma
For more on World Glaucoma Day see http://www. worldglaucoma.org For more on the main causes of visual impairment see http://www.who.int/blindness/ causes/priority/en/ For a previous Lancet paper on primary open-angle glaucoma see Seminar Lancet 2004; 363: 1711–20
868
March 12 was World Glaucoma Day, aimed at promoting awareness of glaucoma as a leading cause of preventable blindness worldwide. It affects nearly 70 million people and is projected to increase by another 20 million by 2020. Most patients with glaucoma remain undiagnosed because symptoms are not present until late progression. Glaucoma is a group of progressive optic neuropathies that lead to severe restriction of the visual field and irreversible blindness. Risk factors include raised intraocular pressure, increasing age, and genetic predisposition. Little is known about primary prevention. Although difficult to detect, regular comprehensive dilated eye examinations of at-risk individuals are essential since early detection offers the opportunity to treat with pressure-lowering drugs and surgery, which can stop onset and slow disease progression. Left untreated, vision loss and blindness are permanent. In high-income countries, there are substantial efforts to support glaucoma research and industry has a key role. However, not in the developing world, where the risk
of blindness from glaucoma is highest with more than 95% of those blind from glaucoma originating from Asia and sub-Saharan Africa. Poor treatment access, lack of compliance with follow-up care, and high treatment costs together with the lack of trained ophthalmologists result in poor management of glaucoma. There is an urgent need to find solutions appropriate to these settings. The recent inclusion of glaucoma as an immediate priority in Vision 2020—a global initiative to eliminate preventable blindness by 2020, and WHO convening the first international meeting in April on glaucoma, suggest the condition is gaining a higher profile and traction. Nevertheless, better education is needed to raise glaucoma awareness. The medical community needs to provide improved training to detect the condition early and governments should acknowledge glaucoma as a national priority and mobilise appropriate resources including early screening. The cost of unnecessary sight loss both to the individual and wider society is enormous, and in glaucoma, preventable. ■ The Lancet www.thelancet.com Vol 373 March 14, 2009