The positive diagnosis of a rare disease such as BHD syndrome can be isolating and daunting for individuals because of the lack of information available from the medical community. Similarly, scientific research into therapies for such diseases can be hampered because of the lack of commercial returns; as the saying goes: ‘money makes the world go round’!
Despite the label, as a whole, rare disease is common. Official figures from Eurodis and NORD suggest that between 6% and 10% of the population suffer from a rare disease at any one time.
Groups such as the National Organization for Rare Disorders (NORD), and the National Institutes of Health, Office of Rare Diseases Research (ORDR) in the USA, or the European Organisation for Rare Diseases (Eurordis) exist to fund strategies for rare diseases. They have resulted in the legislation of the 1983 Orphan Drug Act and the establishment of Orphanet (a web-based database of rare diseases, centres of excellence and patient-support groups) to support the coordination of disease-based support groups, dissemination of information about rare diseases, and research into commercially non-viable treatments. Likewise, Australia has had an Orphan Drugs act since 1998 whilst both New Zealand and Canada both have patient representative groups for rare diseases.
The focus of these organisations significantly includes the provision of accessible information and the coordination of research efforts into rare conditions. This approach seeks to connect isolated patients with specialised knowledge centres and specialist clinicians. But more often than not, the humble General Practitioner (GP) is overlooked despite being the first point of contact individuals have with the medical community. A systematic, generic primary-care approach to rare disease may reduce problems such as lack of coordinated care, lack of information, delayed diagnosis, and other difficulties encountered by people with rare diseases and their carers. It may enable the GP, inevitably confronted by a person with a rare condition, to approach their care systematically.
One way of filling the primary care gap for rare diseases is something I’ve talked about previously, that of the Patient Support Group. Its role in providing a voice for individuals with rare diseases is not to be underestimated and can fulfil roles more facilitative than the provision of morale for its members. The Myrovyltis Trust is exploring the idea of a UK-based patient group for BHD Syndrome, anyone interested is encouraged to read this open letter. Significantly, the European BHD Consortium has just published a comprehensive review entitled ‘Birt-Hogg-Dube syndrome: diagnosis and management’ in the highly respected journal, Lancet Oncology, which I feel would be excellent reading for anyone affected by BHD Syndrome – clinician or not.