What is Rare Disease Day?
On the last day of February each year, countries worldwide take part in Rare Disease Day to raise awareness of a diverse group of disorders that affect fewer than 1 in 2,000 people in Europe or fewer than 200,000 people in the USA. With over 6,000 diseases classified as rare, 30 million people in the European Union alone, half of whom are children, are estimated to be affected. Despite this, there is a significant gap in our understanding of these conditions. The aim of Rare Disease Day is to raise awareness among the general public, healthcare professionals, policymakers and researchers in order to improve the lives of those with rare diseases and their families.
Why is it important to raise awareness of rare diseases?
These diseases are frequently debilitating, and patients may face additional challenges because of the limited knowledge of many rare diseases. Symptoms of rare diseases may resemble those of more common conditions, which often leads to a significant delay in getting a correct diagnosis. Even after a diagnosis is made, treatment options can be inadequate; they are often very expensive, unavailable in certain countries or may require high levels of palliative care.
Research into rare diseases is focused on looking for ways to better diagnose, treat and ultimately cure rare diseases. However, it can be particularly challenging because of limited funding, small patient groups and the need for international collaboration. Research was, therefore, chosen as the theme for the Rare Disease Day in 2017, and it will also be the theme this year, with a particular focus on the role of patients. The insight that patients provide and the impact they have with their commitment to raising awareness of rare diseases should not be underestimated. Patients can actively get involved in the research process by engaging in planning studies, raising funds and connecting to form patient networks. They can also directly contribute by reporting health outcomes and providing indispensable samples for research, which might be the only source of data for some diseases.
What can you do?
By raising awareness of rare diseases, we can improve early diagnosis, encourage policymakers to increase access to services and fund research into rare diseases, as well as reduce the feelings of isolation or the discrimination faced by patients.
At Porterhouse Medical, we are passionate about our work and have a specialist team focused on rare diseases. We work with our global pharmaceutical partners on various projects that aim to raise awareness of rare diseases, improve diagnosis and increase communication between healthcare professionals working with patients who have a rare disease.
To find out more about events and activities on Rare Disease Day 2018 or to get information about rare diseases, take a look at the following resources:
www.rarediseaseday.org – The official Rare Disease Day website, where many have shared their stories about living with a rare disease or having a family member who is affected
www.eurordis.org – The website for the patient-driven alliance representing patient organisations for rare diseases in Europe
www.orpha.net – A key resource for all information regarding rare diseases, including nomenclature and classification of rare diseases, information on orphan drugs, and directories of patient organisations, professional institutions and expert centres
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