Rare Disease Day 28 February

1 March, 2019

Dear HIFA and CHIFA members,

Below are extracts from an editorial in The Lancet Diabetes and Endocrinology, and a comment from me. Full text here: https://www.thelancet.com/journals/landia/article/PIIS2213-8587(19)30006-3/fulltext

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Feb 28 is Rare Disease Day, the theme of which this year is “bridging health and social care”. This 12th annual Rare Disease Day highlights the need for better coordination of medical, social, and support services to lessen the burden that rare diseases — often complex, chronic, and disabling — have on the everyday lives of patients, their families, and carers...

More than 6000 rare diseases (80% with a genetic component) affect more than 300 million people worldwide...

Rare diseases present myriad challenges for patients, their families, and caregivers, including the time it takes to obtain a correct diagnosis for many patients. In a survey of patients and caregivers in the USA and UK, patients reported that it took on average 7·6 years in the USA and 5·6 years in the UK to get a proper diagnosis... Other challenges include a lack of information and resources, the financial cost of care, and difficulty in accessing appropriate medical expertise...

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Comment (NPW): The challenges of diagnosing and managing rare diseases in low- and middle-income countries are especially difficult, and it seems likely that many children/adults are not diagnosed at all. As the editorial suggests, part of the problem is to do with lack of access to healthcare information. Rare diseases are by definition unusual in any healthcare provider's work experience - correct diagnosis and management require access to reference information, even more so than common diseases. It would be interesting to hear more on this topic from HIFA members.

Best wishes, Neil

Let's build a future where people are no longer dying for lack of healthcare information - Join HIFA: www.hifa.org

HIFA profile: Neil Pakenham-Walsh is coordinator of the HIFA global health campaign (Healthcare Information For All - www.hifa.org ), a global community with more than 19,000 members in 177 countries, interacting on six global forums in four languages. Twitter: @hifa_org FB: facebook.com/HIFAdotORG neil@hifa.org