Rare Disease Day 2015: Living with a Rare Disease

There are over 6000 rare diseases known worldwide. Whilst individually these diseases only affect a small number of people it is estimated that, assessed cumulatively, 1 in 17 people will be affected by a rare disease in their lifetime. To raise awareness of these diseases, every year since 2008, at the end of February there has been a Rare Disease Day.

The theme for Rare Disease Day 2015 is focused on the daily lives of patients, families and caregivers who are Living with a Rare Disease. Limited access to healthcare professionals knowledgeable about these rare and typically complex diseases often results in family members and friends becoming the main source of support and care. Rare Disease Day 2015 is a tribute to all the family and friends whose lives are affected by rare disease and who stand day-by-day and hand-in-hand with rare disease patients.

The lack of specific knowledge from local care authorities can lead to the patients and families becoming relative experts in their disease, often providing the information to new medical professionals when required. One invaluable source of information and support for rare disease patients is a disease-specific patient organisation. Although these can vary in the level of expertise and resources, many families find comfort in knowing that they are not alone in their diagnosis.

The BHD foundation website was established to help patients, families and doctors understand BHD from a more scientific stance, including the dissemination of new research. It also provides a primary contact for new BHD patients needing information on testing or local doctors. Complementary to this are the active facebook BHD groups which continue to be a wonderful source of mutual support and information from families affected by BHD regarding testing, symptoms, treatments and day-to-day issues associated with having a rare disease.

BHD has only been recognised as a disease since 1977. However thanks to the continuing work of a small, but increasing, number of clinicians and researchers worldwide, it has been possible to identify the gene associated with BHD, Follciulin, and to begin to understand its functions in the cell. Other research has allowed for the identification of more BHD patients and saved lives by allowing earlier treatment. The more we can understand about BHD and the interactions of folliculin in both normal and pathological situations the closer we will come to alleviating BHD symptoms and develop targeted treatments. They may not know every individual BHD patient in the world but our BHD researchers and clinicians are standing with them to try and make a difference.

There are Rare Disease Day events happening around the world, but if you are planning your own event and want help raising awareness get in touch with the Rare Disease Day team. You can also help spread awareness across social media by joining in with the Rare Disease Day Thunderclap.

Clicking on the images below will take you to Rare Disease Day Events homepages


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