Around 3.5m people in the UK live with a rare disease. These conditions affect 1 in 17 of us. Approximately 80% of these conditions have a genetic cause, and with the exciting developments in genomic medicine we hope to see a huge advancement in the diagnosis and subsequent management of rare diseases. GPs have more diagnostic power than ever before, with genetic testing being increasingly accessible.
I am a doctor and the CEO of Medics4RareDiseases, or M4RD. M4RD is a registered charity that initially came about in 2011, while I was studying at Barts and The London School of Medicine and Dentistry. It started out as the UK’s first rare disease medical student society. I founded the society alongside four of my peers – two of whom are now GPs alongside their continuing roles as trustees for M4RD.
My experience of rare diseases
However my experience with rare diseases started much earlier than this. You might say I was born into a ‘rare disease family’.
My parents founded and grew a successful advocacy group for a lysosomal storage disorder, following the death of my older brother. This was before I was born and so I essentially grew up alongside this patient advocacy group. It was a big part of my life and so, from an early age, I had some understanding about rare diseases.
There are a lot of people living with rare diseases, they face similar challenges in their lives, regardless of their condition, and the impact of these conditions is deeply pervasive and multi-generational. However this reality was not reflected in my medical studies nor during my time practicing as a doctor.
Multiple studies show that medical professionals cannot accurately define a rare disease. They often wildly overestimate the rarity of individual rare disease. They tend to underestimate the prevalence of rare diseases in their population.
This inevitably leads to suboptimal outcomes for patients. Those with rare diseases generally suffer in respect to length to diagnosis (average is 4-6 years), effective coordination of care, access to best management and support for their mental health.
Underestimating rare diseases
While studying and working it would jar me every time I heard 'common things are common' and 'they have something weird and wonderful'. These medical idioms roll off the tongue and serve to reinforce an entrenched stigma against considering or better understanding rare disease.
Rare diseases are not weird and wonderful, they are rare but real. By 'othering' rare diseases from mainstream medicine we isolate a large group of vulnerable patients.
M4RD believes that training is the key to combating these mental barriers that medics have been indoctrinated into. You do not need to know about over 7,000 rare diseases in order to effectively manage your patients. However understanding what a rare disease is, the impact of rarity and the role you can play, is invaluable to patients.
M4RD is educating medical professionals on the fundamentals of rare disease, equipping them with practical tools and tips to improve the patient experience.
The role of general practice
General practice is key to improving the lives of those living with rare conditions. 70% of rare conditions present in childhood, most are lifelong and affect multiple body systems. As generalists, GPs are perfectly placed to support their patients with a holistic approach. This carries countless benefits to patients.
By reframing rare disease and appropriately preparing our GP workforce we can easily improve care with some simple steps. M4RD recently worked with one of its sponsors, Alexion, AstraZeneca Rare Disease, to produce a video about the patient's journey with an undiagnosed rare disease. It demonstrates the difference that informed and proactive doctors can make to a patient living with a rare condition.
The NHS Genomics Medicine Service is now up and running. Our ability to rapidly – and relatively cheaply – diagnose rare genetic conditions has significantly improved. These tests are so much more accessible and advanced from when I had my own carrier testing 30 years ago.
Diagnosis is not the only advancement, more and more therapies are becoming available for rare conditions. Crucially, many of these therapies need to be started as early as possible from presentation.
The phrase 'there is nothing you can do about it anyway' is not applicable as a blanket statement anymore. In my lifetime I have seen my brother’s devastating condition, which ultimately took his life at a young age, become treatable.
At the end of a clinical trial party in the early 2000s I witnessed a family friend walk, for the first time since I’d known him. For many rare diseases there are more treatment options than ever. However, appropriate treatment is only be an option once a diagnosis has been reached.
Supporting patients and families
While innovation in genetic diagnosis and treatments – for some conditions – is exciting, there are some important caveats to keep in mind. Approximately 20% of rare conditions have a non-genetic origin and how patients are supported for life after a diagnosis is vital.
There is always something that can be done to help support patients and their families, even if a disease-specific treatment is not an option. Just like in other areas of medicine, such as cancer, people with rare conditions need care plans, medication reviews, mental health reviews, family planning advice and an overview of research opportunities.
Adequate medical training on rare diseases is crucial. At M4RD we provide practical tools and education to support GPs and other healthcare professionals. Our aim is that every patient with a rare disease gets a timely diagnosis, mental health support and care in a specialist centre. There needs to be clear communication channels with their GP and local hospital. Patients need support of a patient advocacy group and the hope provided by research opportunities.
- Dr McKay is CEO of charity Medics4RareDiseases
- To access M4RD’s free, flexible training programme and learn about our practical tools and support, sign up to Rare Disease 101 at M4RD Learn https://learn.m4rd.org. Learn the basics about rare diseases and pragmatic tips to assist you in diagnosing and managing rare conditions, without us teaching you about a single rare disease.
Medics4RareDiseases is a charity registered in England and Wales. The team would like to acknowledge and thank the companies who have sponsored the M4RD 2022 work plan: Alexion, Amicus Therapeutics, Biomarin, Bionical Emas, Healx, Kyowa Kirin, Orchard Therapeutics, PTC Therapeutics and Sobi.
All funding received is used for achieving the objects of Medics4RareDiseases. Sponsors have no editorial control over M4RD’s content or activities.
To find out more about how M4RD works with sponsors, please visit www.m4rd.org/sponsors