Rare Disease in General Practice: BHD Diagnosis and Management Guidelines

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.

One thought on “Rare Disease in General Practice: BHD Diagnosis and Management Guidelines

  1. It took about 12 years and at least that many doctors to get a diagnosis of mastocytosis. Now that I know what I have, I discovered the Mastocytosis Society, and even attended their annual conference this year. If you have a rare disease, you have to advocate for yourself. You have to search for the right doctors, and try different meds until you find the ones that work for you. This experience has changed my attitude toward the professional community. I no longer look upon my doctors as demi-Gods who are all-knowing and all-powerful. They are human beings with specialized sets of knowledge. They can best treat what they see most often, and that excludes us. So, if you are searching for that diagnosis, don’t give up. Get yourself to doctors affiliated with teaching hospitals. Once you get that diagnosis, look for support groups and specialists who are on the cutting edge of research. The internet is your best friend in this respect. But do not give up. You will be frustrated. You will be doubted and questioned. You will be misdiagnosed by doctors who don’t know any better. But it’s your body, and you are responsible for getting the help it needs. These rare diseases often change lives in that they must be taken into primary consideration when doing simple things like planning a meal or a vacation. Your rare disease may prevent you from doing things you used to enjoy, but life is about adjusting. What doesn’t kill you makes you stronger.

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