This text was originally given as a keynote speech by Rebecca Tvedt Skarberg at the Rare2030 conference in February 2020. It was later published as the editorial in OIFE-Magazine 1-2020. 

“It has been a great honour to be a part of Rare2030. Building tomorrow’s roadmap for rare diseases is a project close to my heart, simply because I myself recognize the obstacles of rarity just all too well. I remember being in Romania in 2019 at the first workshop, thinking that 2030 seemed to be lightyears away. We who live with medical conditions feel that change and progress is too slow in the rare disease field. It seems that many of us are still facing the same obstacles as our forerunners did 30 years back. It’s a long road to a diagnosis, an exhausting search for information that might not be out there, research and treatment options that might not exist or not exist in your corner of the world or even worse; are too expensive to access. Enough is enough! We need to change this. Within this two-year project of Rare2030 we were ironically reminded of how quickly things can change. In 2020 our workshops had to be moved online, and we all know why.

Thanks to the Council’s recommendations of 2009 we have made some big steps forward. We have national plans in many countries. We are more connected through the ERNs (European Reference Networks). In some areas we have new treatment and a faster diagnosis. And I dare say our voices are growing stronger in parallel with these breakthroughs. Look where we’re at!

But, my friends, there is no time to slow down. The clock is ticking, people are waiting for a chance to fulfil their potentials, a chance for independence. People are still waiting for equal rights to a precise diagnosis, to the newest innovations, to involvement and care on their own terms. Quite simply an equal right to feel safe in the hands of healthcare. We have to keep moving. Because rarity is not a problem to fix or overcome once and for all. Rarity impacts our lives on top of the condition itself. Rarity will always play a role in the choices we make on how we organize healthcare. Let’s keep working on making the impact of rarity as manageable as possible.

The recommendations of Rare2030 show us that we still need a protecting hand over rare diseases when priorities are set, when budgets are debated and when healthcare becomes a tug of war. If we handle rarity disease by disease, we will never reach enough prevalence, documentation or profit to compete with other just causes. This will not lead us to the preferred scenario in Rare2030 of a society of social justice.

We need a new policy framework for rare disease at EU level. The ERNs prove that great progress can be made when we work together. But these infrastructures are not enough. With the suggested new policy framework, we can speed up the diagnosis process for the many ultra rare diseases. We can continue to find treatments instead of putting band aids on symptoms. We can share data more efficiently and make research driven by needs. Most importantly, the expertise will have a chance to trickle down to local services so that we make sure to leave no one behind.

We can stop expecting parents to become scientists, doctors and coordinators in their free time. Having a rare condition should not have to be a fulltime job. We have our own lives to live, we expect our voices to continue to be listened to. In 2030 our healthcare will not be left to chance.

I have high hopes for where the recommendations of Rare2030 will lead us. The pandemic has shown us that we have the ability to work together and the infrastructure to develop a vaccine in under one year. And on that note let’s continue fueling the field of rare diseases. Let’s continue pushing for change and working together on the road to 2030.

By Rebecca Tvedt Skarberg, ePag ERN BOND