Rare Disease Day was founded by EURORDIS, an alliance of organisations and individuals who represent those with rare diseases in Europe, in order to raise awareness about rare diseases as a public health issue. The first Rare Disease Day was celebrated in Europe on 29th February 2008, the day chosen because it is, in itself, rare. The following year, NORD, the US counterpart of EURORDIS, joined the initiative and Rare Disease Day has been celebrated on the last day of February since. Next Thursday, 28th February 2013, marks the sixth international Rare Disease Day and, with campaigning and awareness events being planned in more than 60 countries, it seems appropriate that this year’s theme is “Rare Disorders Without Borders”.
The Orphan Drug Act of 1983 defines a rare disease as one that affects fewer than 200,000 persons in the United States; although the exact prevalence of BHD Syndrome is difficult to determine, fewer than 400 families have been reported worldwide, making BHD exceedingly rare.
Approximately 7000 rare diseases have been reported, 8 out of 10 of which, like BHD, are genetic, and many are chronic, debilitating and life-threatening. Although BHD symptoms develop in adulthood, roughly half of all rare diseases affect children and account for over a third of deaths in babies up to 12 months old. It is estimated that 350 million people worldwide have a rare disease, which equates to roughly 1 in 20 people. When you consider the family, carers and friends of those with a rare disease, the number of people affected by rare diseases is even higher. Thus, rare diseases are not unusual.
Many patients with rare diseases face similar challenges, such as difficulties in getting a diagnosis, feelings of isolation, lack of information, lack of support services and financial hardship. Therefore, cross-border co-operation is required to find common solutions for these issues. To address these issues for BHD patients, the BHD Foundation provides up to date information about BHD; information pamphlets for patients to give to their doctors, friends and family; online support forums on our website, Facebook and Twitter; and runs a patient session at our annual BHD symposia where patients can meet BHD experts and ask questions.
Treatment pathways for those with rare diseases currently differ between countries; successful healthcare and social care policies for the treatment of rare diseases should be recognised and replicated internationally. Indeed, the European Union has called all of its member states to develop national care plans for rare diseases by the end of 2013, with the aim of standardising rare disease care and treatment across Europe. In the case of BHD Syndrome, the European BHD Consortium, which consists of 14 BHD clinicians and researchers from across Europe, have pooled their knowledge and experience and have published guidelines for the diagnostic criteria and optimal surveillance and treatment of those with BHD (Menko et al., 2009).
The scarcity of cases makes medical research difficult for most rare diseases, and means that expertise is scarce and scattered. International collaboration between specialists in the same, or similar, diseases will result in the sharing of knowledge, data and resources and the quicker development of treatments. The International Rare Diseases Research Consortium (IRDiRC) has been founded to facilitate rare disease research internationally, and is holding its inaugural conference in Dublin in April. In addition to funding research projects on BHD, the BHD Foundation organises annual symposia for the BHD research community to share and discuss their work, and provides resources for researchers such as information about animal models, cell lines and antibodies; an up to date database of relevant literature; and an up to date review of the current literature.
With these points in mind, this year’s Rare Disease Day, “Rare Disorders Without Borders” has three main aims: to promote international collaboration in order to speed up research into rare diseases; to set out best practices for the treatment and care of those with rare diseases and to roll these out internationally; and, most importantly, to remind those with a rare disease that they are not alone.
To find out if there are any Rare Disease Day events near you, or to find out how to organise one yourself, please go to the Rare Disease Day 2013 website.
- Menko FH, van Steensel MA, Giraud S, Friis-Hansen L, Richard S, Ungari S, Nordenskjöld M, Hansen TV, Solly J, Maher ER, & European BHD Consortium (2009). Birt-Hogg-Dubé syndrome: diagnosis and management. The lancet oncology, 10 (12), 1199-206 PMID: 19959076
- The rare disease statistics in this blog were found on the Rare Disease Day 2013, EURORDIS, NORD, Office of Rare Disease Research and Global Genes Project websites.
www.bhdsyndrome.org – the primary online resource for anyone interested in BHD Syndrome.