The mantra ‘common things are common’ is rife in medical teaching, which can lead to the exclusion of rare diseases from curricula. However with a UK patient population of 3.5 million people - rare diseases are collectively common. Medics4RareDiseases (M4RD) is a UK registered charity that is highlighting this fact in order to drive an attitude change towards rare diseases amongst medical students and doctors in training. Our philosophy is that a single doctor cannot know about over 7000 rare diseases but they can know that they are a global health priority that requires unique support from the medical profession in order to support those living with a rare disease.
People often ask how I came to be a rare disease advocate. The answer is I was a rare disease advocate long before I was a doctor. My eldest brother was affected by MPS II and died before I was born. Not long after his death, my mother founded the MPS Society and I grew up alongside the patient group. Our family life really revolved around rare disease and the impact it has on people and communities. So when I went to medical school I was surprised by how little attention rare diseases received, considering how great the challenges are in this area.
Medics4RareDiseases (M4RD) has a strategy to equip the medical profession with the knowledge and skills needed to understand rare disease as a whole, so that doctors can apply these skills to whoever enters their consultation room.
M4RD is reframing rare in medicine by creating mantra ‘common things are common, and so is rare disease’. We emphasise that 3.5million people can't be ignored. While one doctor can't know about every rare disease they can learn about the common patient experience of the diagnostic odyssey and the common challenges faced by those living with rare diseases.
The diagnostic odyssey is a phrase used to describe the long and arduous journey that patients take to receive a rare diagnosis involving many physicians, misdiagnoses and the potential for needless and harmful intervention. One impact report demonstrated that the average patient waited 5.6 years to receive an accurate diagnosis. And patients saw an average of 8 doctors in this time.
No doctor wants to miss a diagnosis, however they will if they haven’t been informed of the relevance of rare disease to their clinical practice. We want doctors to #DareToThinkRare. One tip that comes up over and over from specialists in the field is to trust your gut feeling - if it doesn't feel right, ask someone. Be curious, be compassionate and persevere to get answers for your patients.
If a doctor does suspect that a patient has a rare disease it is important to listen to the patient and the patient's family, understand what their needs and concerns are, explain honestly what they do and don't know and then find experts to help them support the patient. Rare disease specialists may not reside in their hospital, county or even country. They are likely to have to ask for outside help and respect the role of the expert patient.
M4RD’s teachings stress that medical professions remember to involve patient organisations wherever possible and from as early as possible. If they know what condition a patient has, there may be a designated patient group who will have knowledge about support networks, clinics and possible research. There are also amazing umbrella groups out there that support the community such as Rare Revolution. Rare Revolution not only have a big online community of Rare Revolutionaries and a quarterly digital magazine but also create tools such as tips for managing your rare patient.
M4RD asks doctors to be advocates for their patients. Try to understand what the disease means for them and their community. What would make the biggest difference to their quality of life - it might be coordinated appointments or something simple like a care plan in their notes. Work with patient groups who have more time to take over a support role - and listen to their advice.
Rare diseases are collectively common and genomic medicine allows for many more diseases to be diagnosed faster and cheaper than ever before. Despite this rare diseases can be inherently difficult to diagnose and there is no golden bullet for ending the diagnostic odyssey. However lack of awareness of the basics of rare disease should not be what delays a diagnosis. It is imperative that patients don't miss out on a diagnosis and innovation because their doctors haven't considered a rare disease or reviewed their symptoms that may have gone years without a diagnosis. 1 in 17 people will be affected by a rare disease in their lifetime so we all need the medical profession to #daretothinkrare
You can listen to Lucy talking about rare diseases and her own personal experience of how she got into the field here.
Medics4RareDiseases is grateful to receive sponsorship from pharmaceutical companies: Alexion, Amicus, Sanofi Genzyme and Sobi, as well as donations from BioMarin, Takeda and Ultragenyx.
None of these companies have any control over M4RD's activities or message. M4RD works independently and transparently with these companies. For more information please visit www.m4rd.org/sponsors
While one doctor can't know about every rare disease, they can learn about the common patient experience of the diagnostic odyssey and the common challenges faced by those living with rare diseases.
Lucy McKay, CEO of Medics4RareDiseases