Eurordis - Rare Disease Europe

A Young Patient Advocate, a Policy Maker and a Scientist: Meet the 2022 Black Pearl Awardees

On Tuesday, the Black Pearl Awards ceremony took place online, celebrating and recognising the outstanding achievements of the rare disease community and also marking rare disease awareness month!

We want to continue these celebrations with our final article of the ‘Meet the Awardees’ series, and in this article you will get to know the recipients of the Young Patient Advocate Award, Policy Maker Award and Scientific Award.

So, who are the awardees?

Firstly, meet Professor Franz Schaefer, our 2022 Scientific Award recipient! Professor Schaefer has a vast career full of examples of his outstanding dedication to the rare disease cause. His work goes beyond scientific research with his involvement in the European Reference Networks Coordinators Group, several of the cross-ERNs Working Groups, as well as in setting up rare disease registries. His drive and commitment have enabled key advances to be made in the field of rare kidney diseases, paediatric nephrology and hypertension. When asked which part of his outstanding work he was most proud of, he stated “I am quite proud that we succeeded in setting up a European registry for all rare kidney diseases and were able to motivate all our ERN members to work for a common goal.”

“I feel deeply honoured and grateful that the work of my group is recognized with this prestigious award. The Award is a strong encouragement and motivation to continue our efforts to advance knowledge, promote research and improve the lives of patients with rare diseases”  – Franz Schaefer.

Secondly, this year’s Policy Maker Award goes to Professor Hans-Georg Eichler! Professor Eichler is a passionate advocate of the rare disease community. Throughout his career, he has campaigned to evolve clinical research and to make it more accessible to rare disease patients. As Senior Medical Officer at the European Medicines Agency, he was the driving force behind great advances in the field of rare diseases. He believes in the evolving nature of clinical trials and has succeeded in making this a reality; “I argued for a pre-planned life-cycle approach to knowledge generation, with judicious use of real world data and adaptation of regulatory and reimbursement decisions as new information becomes available post-authorisation” says Eichler, when asked which part of his work he is most proud of. “This approach was not welcomed at first by some stakeholders, but I am proud to see that it has now become broadly accepted and the default process for most new drugs coming to market.”

“Every functioning healthcare system needs agreed policies in place. These are usually contentious and in flux as they are shaped by the competing interests of individual stakeholders. Yet, the ultimate beneficiaries of policies should be patients in need of novel therapies. I am very proud to receive this recognition of my efforts in the field of policy making from the group that matters most: patients with rare diseases” – Hans-Georg.

And last but by no means least, our Young Patient Advocate Award, as announced during the ceremony goes to Danielle Drachmann! As a mother of two children living with the rare and yet unexplained condition idiopathic ketotic hypoglycemia (IKH), the lack of knowledge and grey areas surrounding her children’s conditions led her to forming the world’s largest patient organisation for the condition, Ketotic Hypoglycemia International (KHI).  KHI aims to foster the advancement of research into the etiology, prevalence, management, and monitoring of idiopathic ketotic hypoglycemia, while challenging current perceptions and attitudes to expand the recognition that IKH is more than  a  normal  variation of childhood. The drive and resilience of Danielle to build a better future for those living with idiopathic ketotic ypoglycemia and her work in uniting families affected by this condition, initiating and leading patient-driven research projects and improving lives worldwide, means she is incredibly deserving of the recognition of the Young Patient Advocate Award.

“Take a minute and think about it: Where could we be in five years if the patient organizations, patients and caregivers were empowered to share their thoughts of correlation … and the medical experts were educated, encouraged and trained to engage in research projects with patients and their caregivers as equal stakeholders?” – Danielle Drachmann

A huge congratulations to all of this year’s recipients. We hope you enjoyed getting to know these extraordinary individuals, and why the Black Pearl Awards is so important to recognise those with this outstanding dedication to the rare disease community. If you missed watching the ceremony, don’t worry – you can read more about this year’s awardees, or read our other ‘Meet the Awardees’ articles!

By Clara Maddison, EURORDIS Digital Communications Intern