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Archive for February, 2016

Rare Disease Day

29 Feb, 16 | by Hemali Bedi

By Hemali Bedi

Rare diseases affect one in 2000 people or less; [1] but, rare diseases are more than just a rdd-logo-smallmedical challenge. Together, they present a public health problem that affects approximately 400 million people worldwide. [1]

February 29th marks the ninth annual Rare Disease Day, which is co-ordinated by EURORDIS. [2] With the aim of raising awareness for rare diseases, this day is celebrated by health care professionals, researchers, patients, carers and policy makers in over 80 countries across the world. [2]

People all over the world are affected by rare diseases, which make them an important global health issue. [1] The causes of most rare diseases remain unknown. [1] The challenges of living with a rare disease often include a lack of medical knowledge about the condition, delayed diagnosis and inequitable access to health care. [1] Some of these factors are listed in a recent Global Health case report by Sundram et al, which focuses on a rare congenital disorder known as Cloacal dysgenesis sequence.

At BMJ Case Reports, we are interested in Global Health case reports that focus on all the causes of ill health and access to healthcare services, whether economic, social or political – global health issues as they impact on individual patient’s lives.

With this in mind, what else can be done to raise awareness of rare diseases and promote them as an international public health priority?

References

[1] The World Health Organization. Priority Medicines for Europe and the World “A Public Health Approach to Innovation” Update on 2004 Background Paper. www.who.int/medicines/areas/priority_medicines/BP6_19Rare.pdf

[2] What is Rare Disease Day? Rare Disease UK. www.rarediseaseday.org/article/what-is-rare-disease-day, accessed 22 February 2016

Steps to success

3 Feb, 16 | by Hemali Bedi

By Kristian Dye

Frates and Crane report a case that is a little unusual among case reports. The patient had no weird or wonderful signs or symptoms. She had no particular pathology. She was not unwell. Her presentation was all about lifestyle, risk, and the case is all about modification of that risk. walking-711789_1920

The patient in this case is an archetype for many patients seen in primary care. She is overweight, has elevated lipids, has a sedentary lifestyle and has a family history of stroke.

For me, this only really poses two questions:

1. What was different in this case to those who we can convince of the value of risk modification, but who are unable to achieve it?
2. How can we achieve these kinds of results for more of our patients?

Answering these questions could reduce morbidity and premature mortality among our populations much more radically than more glamourous, cutting-edge interventions.

 

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