For #raredisease day

February 29th is Rare Disease Day – an opportunity to celebrate steps forward in the understanding and treatment of rare diseases, to pay tribute the people who live with them – and their carers – and to draw attention to the pressing need for more research, more treatments, more recognition and more help to address the hundreds of diseases and disorders which are designated as ‘rare’.

Until a year ago, my understanding of rare diseases was, to say the least, limited. In the last 12 months, however, I have provided writing and editing support to a number of teams working on rare diseases. These have included several blood disorders (porphyria, haemophilia, idiopathic thrombocytopenic purpura [ITP]) and metabolic disorders (hyperammonaemia, chronic cholestasis), as well as hereditary angioedema (HAE) and ichthyosis.

Most of these have the potential to be life threatening. Most require prompt recognition in order for optimal treatment to be delivered before the situation becomes critical. Most are hereditary (although some also appear spontaneously – ie without a family history). All of these affect children.

In the work that I’ve done in the last year I’ve identified some common threads in communications about rare diseases, which I’ll share here.

1.Traditional media – traditional response

I have worked with two teams this year who have been trying to publish papers on the treatment of porphyria and HAE, respectively. My involvement – funded by drug companies in both cases – has been to edit for length and for English. Both papers were summarily rejected by the authors’ first choice of journal for being of limited interest to their readership. This is something of a brick wall, then, against which to bang your head. Most doctors will never see a case of porphyria or HAE (or any other rare disease), but if they don’t know about porphyria or HAE, how will they recognise it if they do? It is all very well to publish in journals that specialise in rare diseases, but you’re probably only reaching doctors who know all about those conditions anyway. This does not help patients, as the following two examples will hopefully help to illustrate.

A couple of the conditions that I have written about this year initially present with very general symptoms. Sadly the most obvious choices of therapy or procedure for those symptoms exacerbate rather than alleviate them, which, if doctors had been able to read case reports on patients with these disorders, could be a clue to the fact that something more unusual is going on.

Haemophilia, renowned as a hereditary disease in males, is now known to affect women and to arise as a result of spontaneous gene mutations. Doctors who are unaware of those facts could expend a lot of time, money and patient goodwill on exploring unexplained and/or heavy bleeding in a patient who could be easily helped by prescribing the appropriate clotting factor.

It would be great … if the general medicine journals could commit to taking a few papers on rare diseases each year. The planting of those seeds of knowledge could make a huge difference to those few patients whose quality of life (even life itself) may depend on it.

2. Social media: making contact and spreading the word

I don’t think that it is possible to underestimate the huge difference that widespread uptake of social media has made and continues to make, to patients with rare diseases, their carers and their doctors. Starting with websites providing news and information about the disease and its treatment, case histories that might prove useful in differential diagnosis, space for discussion and links to other useful sources of information, and moving on to Facebook and Twitter, which provide more natural environments for interaction with other patients, researchers, drug companies and healthcare professionals, social media is generally making the world a better place for people with rare diseases.

Here’s one example of how motivating social media can be, particularly for young people with a rare disease.

British professional cyclist Alex Dowsett has haemophilia – Google him (plus haemophilia) and you will see how social media allows him to reach out to young people with haemophilia (and the rest of us, of course) and let them know that not only can you lead an ordinary life with a rare disease, you can lead an extraordinary life if you are motivated to stay fit and healthy.

Haemophilia is a disorder that we know a lot about, and medication and diagnostics for checking clotting times have been available for some time and are being continuously improved. This is not the case for many rare diseases, however. Going forward, Twitter and Facebook are likely to become essential in the recruitment of patients into clinical trials for new drugs to treat rare diseases. With comparatively few patients being eligible for inclusion in these trials, it is really important to contact as many as possible at the outset and it is easier to do this through social media than through patient records.

France-based Eurordis (www.eurordis.org) – a non-governmental patient-driven alliance of patient organisations representing >500 rare (orphan) diseases in 46 countries – and the US-based National Organization for Rare Diseases (NORD; www.rarediseases.org) have created a portal (www.rarediseasecommunities.org), which links rare disease communities together, provides automatic translations of websites, and acts as a centre for the collection and dissemination of news on rare diseases. I was fortunate to meet Rob Pleticha of Eurordis last year at a meeting for representatives of ITP patient groups and he provided them with useful tips for staying safe online, reaching as large an audience as possible and ensuring the accuracy of information on their sites.

It would be great  … if everyone followed @eurordis and @NORD on Twitter and retweeted their news and requests for help. The more people they reach, the more people are likely to be helped.

The patient is king/queen

The chances are that if you are a patient with a rare disease, or the parent or the partner of a patient with a rare disease, you know at least as much about that condition as most of the healthcare professionals that you will come across. Patient groups play a vital role then in not just being a resource for patients, partners and parents, but also for healthcare professionals.

I was invited last year to act as a scribe for representatives of patient groups from across Europe at an international meeting for physicians and nurses who treat patients with ITP. The whole event – which happens annually – was sponsored by Amgen, who had included the patient group representatives for the first time in recognition of the important role that they play in supporting newly diagnosed patients. In addition to their own sessions, these groups took part in discussions of case studies with the HCPs and led a session on how patient groups can help HCPs in their work with patients.

I found this meeting at the same time profoundly moving and immensely uplifting. It is impossible not to be moved when you hear the how and why these people came to set up or be involved their groups. But it was truly uplifting to hear about their successes, to see how seriously they were taken by the HCPs at the meeting and to understand how deeply committed they were to sharing best practice and supporting other patients with ITP and their families.

It would be great … to see other formal opportunities for patient groups and HCPs to share best practice and learning, and to look at life from the other’s perspective – there were some real ‘lightbulb moments’ at the sessions I attended.

And finally …

The ITP meeting was a watershed for me, coming at the end of a year of closer contact with rare diseases. It inspired me to find out more about Eurordis and to do my bit in the social media that I use to promote its aims. Ultimately, it inspired this blog.

I realise that this is (another) long post – and there’s still plenty that I’d like to say (perhaps another time) – but before I finish I particularly want to mention @Rose_arr and @pjbjib, who follow me on Twitter (@jytricker). They have family members with rare diseases and they’ve been asking me to sign a petition (wh.gov/OMR) to improve state funding for treatments for rare diseases in the USA. I’m not a US citizen, so I don’t think that I can sign it. This, then, is my next best thing, using social media to be an extra voice for the cause – I hope that someone reading this will sign the petition.

To find out more about me and my medical writing and editing work, please visit my website at www.freelancemedicalwriting.co.uk .

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