I once told a conference that it was my perception that rare disease communities were in a stronger position to put research at the top of the agenda; that patients, carers, clinicians and researchers found it easier to get around the table in these areas, were able to work more closely together and mobilise for a better deal.
‘Nothing could be further from the truth,’ said a woman in the audience. ‘We struggle to make it work. Many families only hear about research when it’s too late.’
She was right to challenge my naivety.
Rare Disease Day on 29th February is approaching fast. Rare Disease UK – the national alliance for people with rare disease and all who support them – has recently published a report looking at the experiences of over 1200 people affected by rare diseases.
There is a sobering section on research in this excellent report. It shows 53% of respondents as feeling uninformed about research; only 25% say they have been given enough information. 80% are interested in taking part in research. But only 29% have done so.
When it comes to the things that matter for a patient and their family: awareness and , accessibility and acknowledgement we still have a long way to go. I was particularly depressed to hear that the onus is still on patients and families to request research results and to get easy-to-understand updates on what is happening with the science.
Thankfully patient groups seem to be doing sterling work. But researchers and their institutions need to step up to the plate more. When asked, people feel that this information can only help to strengthen the partnership between patients, researchers and clinicians to do more research and find new treatments more quickly. It’s a missed opportunity if we do not.
There is a silver lining to the cloud. People report that awareness of research has improved over the last five years. They also say that public involvement in how research is done is on the rise: ‘”Patient voices are being heard a bit more.” – Patient, systemic mastocytosis.’
The 100K Genome Project now underway and actively recruiting is going to be extremely important in this area. You might also want to check out the work of the NIHR Rare Diseases Translational Research Collaboration which is doing great work to involve people in its projects.
It is oft said by scientists in rare diseases that the work they do often has an impact much wider than the condition they interested in. That it often has relevance for commoner conditions as well. I am sure that will also be true of public involvement. That is why rare disease research is worthy of the support of all of us.
Please champion Rare Disease Day this year and let’s put research high on the agenda.