It’s Rare Disease Day this weekend!  Every year the end of February sees this day focused on rare diseases.  The aim of the disease day is to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.  There are over 300 million people living with one or more of over 7,000 identified rare diseases around the world.  Rare Disease Day is for them – to show support and help spread the word.

What is a rare disease

In essence a rare disease is a condition that affects very few people and the definition varies by region.  In the USA it is defined as a condition that affects fewer than 1 in 1,500, in Europe it is defined as fewer than 1 in 2,000 people, and in Japan it is fewer than 1 in 2,500 people.  There are also ultra-rare diseases which affect even fewer people, less than 1 in 50,000.

Rare Disease day tweet

72% of rare diseases are genetic whilst others are the result of infections (bacterial or viral), allergies and environmental causes.  70% of those genetic rare diseases start in childhood.  In this post I will talk about “patients” but read that to mean “patients or their carers, such as parents”

What are the big issues with rare disease

Being rare these diseases often have big issues around diagnosis.  The average rare disease patient goes between 4 and 7 years before getting a diagnosis.  They often have to see multiple physicians and often receive at least 2 mis-diagnosis before the proper disease is identified.  Many GPs may never see a patient with a certain rare disease, and with over 7000 of them, it is not surprising that there are difficulties in identifying them straight away.

The other issue for rare disease patients is isolation, lack of information and lack of support.  Whereas in other disease areas you have Patient Associations (PAGs) in rare disease formal PAGs are often missing.  There is also such a limit to information about these diseases that patients struggle to educate themselves.

This is where social media and the internet has really stepped up.  Now patients can connect online.  They have access to information from around the globe.  In rare disease we really start to see patient experts, who know far more than their GP for example.  We start to see these patients forming online communities and acting as centres of information.  If you are looking for another patient – or potential patient – these online communities and expert patients are a great place to start.

Whereas our healthcare systems and pharma industry is structured at a local level, these patient communities are not restricted by geography, only language.  These patients are also extremely motivated.  They want to learn, they want to connect and they want to support others in their situation.

rare disease day

Implications for the pharma industry

Thanks to regulations and improved opportunities around orphan drugs (products targeting rare diseases) there is now much more interest in the industry in this disease area.  This is an area with huge unmet needs and very limited treatment options.  The pharma industry still faces huge costs associated with R&D, and the nature of rare disease can add additional costs and complications.

One of the big ones is finding patients for trials, and then for approved products.  This is again where social media comes in. As mentioned there are sometimes pre-existing patient networks and they are generally extremely keen to support the industry.  There is of course an expectation of quid pro quo – at the end of the day this is a relationship and both parties should bring something.  The pharma industry can provide more information, access to global experts and clinical trials.  Patients can bring the network, the insights and the experience.

Given the impact of social media as a source of health information this is also a great place to do paid posts or promotion to reach patients or drive them to more information, and potentially support them in getting a quicker diagnosis.  This in turn can help a pharma company where each individual patient matters.  The more patients (quickly) diagnosed the better for everyone.

There are of course regulatory elements to consider. It may not always be possible to do traditional disease awareness if there is only one product for the disease.  There are work arounds however.  Firstly ensure that KOLs are adept at spreading the word to their peers and the public, especially via social media.  Secondly make sure patient groups are supported.  There are opportunities for pharma to connect KOLs to patient groups for example or to provide patient groups with social media training so that they can amplify their own messages.

There is also the need to make sure that those GPs or other HCPs recognise that rare patient when they walk into the room.  This means making sure that they are aware of symptoms and these are top of mind.  Annual congress are great – but they only reach a certain group of physicians and only once a year.  A steady stream of activity needs to happen – and again this is where social media can help do this in an impactful and cost effective way.

Rare disease Linkedin Post

Frankly if you are working in pharma in rare disease social media should be one of your priority channels. It still amazes me to see the limited activity of pharma companies working in rare disease on social media.  This is where the patients are.  This is where physicians go to when they have their tough diagnosis questions.  Social media is one of the, if not the, most important channel when it comes to rare disease!

If you work in pharma and need support around social media and rare disease, social media and HCP engagement or training, or social media and patient engagement then please contact me.  I have years of experience but also the passion for this that only a patient can bring!

Support Rare Disease Day

Finally I urge you all to go out and support Rare Disease Day.  The more people can share and help spread the word the better.  Hop on Twitter, Instagram, Facebook or your preferred social media of choice and get active! has some great resources you can download and share.  Follow #rarediseaseday and join us as we show our support!

If you are a patient and need support here is a list of useful resources:

National Organisation for Rare Disorders (US)



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