It has been an exciting and slightly frantic week for the Findacure team, and for everyone in the rare disease world. The build up to Rare Disease Day has been high paced, with events and announcements galore, all with the aim of raising more awareness of rare disease around the UK. For this week’s blog I’m sharing a few of our Rare Disease Week highlights.
Findacure’s Drug Repurposing Conference
This week started with a bang (and a very early alarm clock) for the Findacure team, as we hosted our seventh annual conference, focusing once again on drug repurposing. We had more people through the door than ever before, but more importantly an engaged and positive audience. A stand out talk for me was delivered by CATS Foundation, Niemann Pick UK, and Intrabio. In it we heard about an innovative trial design, allowing three different rare conditions to be trialed for the same repurposed drug, and crucially the critical role that patient groups have played in the trial design process. In the words of our speaker from Intrabio, Taylor Fields, “If we weren’t working with the patients, it would never have happened!”
It is fair to say that all of our speakers were fantastic, and it was a real pleasure to chair the day and see the hard work of all of the team (especially the relentless Mary Rose) pay off. Thank you everyone who help make it such a success!
The corridors of power
On Wednesday, Mary Rose and I headed to Westminster for the Genetic Alliance UK’s Parliamentary reception. It was great to get a chance to talk to so many people from the rare disease community, and to se interest from both parliamentarians and the Department of Health. The event focussed on the Genetic Alliance’s Rare Alert project, hoping to bring a nationally recognised alert card scheme into play for rare disease patients. This could make a tangible difference to so many people in the UK.
In the news
Not content with brushing shoulders with MPs, we were really pleased to secure some press attention. This week we featured in a local paper alongside the story of Nina Knight and the group Acrodysostosis Support and Research. Huge thanks to Nina for sharing her story for Rare Disease Day, which you can read here.
Essay winners for all to see
Rare disease week has also seen the publication of the winning essays from The Student Voice Prize. The overall winner, No Friends 1 by Anna-Lucia Koerling, was published in Orphanet Journal of Rare Diseases today, and is a fantastic account of the impact a clinician can have on a patient just by taking the time to talk. Congratulations to Anna and all of our winners – please do read their articles and share!
Improving Rare Disease Recognition Via Medical Education – Muhammad Shaikh
No Country for Healthcare Equity – Anneliese Ng
Dual Deprivation for Rare Disease – Sandy Ayoub
No Friends 1 – Anna-Lucia Koerling
Spending time with the sequencers
Yesterday I was invited to visit the Cambridge HQ of Illumina – a company that specialise in DNA sequencing – to join in their Rare Disease Day celebrations. Illumina are heavily involved in all genomics, and as such have a significant impact on rare disease patient diagnosis. They are increasingly aware of their connection to rare diseases, and the impact they have on patients’ lives. Their Rare Disease Day event served to highlight this, with a showing of a rare disease film “Journey of Hope”, and speakers who both made, and feature in the film. It was a fantastic event, and also had great cupcakes!
You can see the film on the Rare Film Festival website, along with an number of other fantastic rare disease pieces.
Getting Rare Disease Day ready
As you can see, it has been a busy and enjoyable week! We are now gearing up for Rare Disease Day itself, and will be running our rare disease photo campaign across the day. If you’d like to get involved, please download our photo sign and share the reason you support rare disease day on social media with the hash tags #RareDiseaseDay and #RDD2020.
We hope you have a great Rare Disease Day, and that we can collectively raise awareness for the millions of people within our global rare disease community. We’ll wrap up rare disease week with Findacure’s newest team member Philippa, sharing her thoughts on her first Rare Disease Day:
“Before I started working as Projects Officer at Findacure, I didn’t even know that Rare Disease Day existed, let alone that a thriving and connected community of advocates and patients were out there shouting about rare diseases. Yet, now I am lucky enough to hear every day the stories that this community share; stories of challenges, successes and bravery as they face diseases that are utterly debilitating with hope and a smile on their face. My first Rare Disease Day has shown me that hope is a very valuable commodity in this community as those who keep on hoping and moving against challenges achieve incredible things for themselves and their patient community. But it is not only hope that drives these remarkable individuals, but hard work and determination coupled with the strong ethos that it is only right for them to raise their voice about rare diseases for all to hear. It is my hope that this rare disease day more people will be listening as I believe it is time that all patients are given the care and quality of life they deserve, no matter how rare the disease. I know now that this community isn’t quiet and altogether we can make one hell of a fuss.”