We were delighted to attend the 11th European Conference on Rare Diseases & Orphan Products 2022 which was held from 27th June to 1st July. Over 840 participants from 61 countries came together with the goal of improving the quality of life of those with rare conditions. Although there are thousands of rare diseases, collectively they can be thought of as common. It is critical for our voices to be heard and represent the rare disease community to drive change.  

Patient Data 

The event discussed the use of patient data in research. It was stressed that the use of any patient data must lead to a direct impact on the patients themselves. It was also highlighted that research and healthcare need to be interlinked. For example, generating real world evidence through the use of patient registries is an important aspect of driving research. However, using patient health data to inform changes in healthcare policy is also critical. Better integration of patient health data into healthcare systems is needed.  

Journey to Diagnosis 

The importance of early diagnosis was also featured at the event. Some initial results from the Global Rare Barometer Survey were presented. This survey ran from March to June 2022 and had 13000 respondents from around the world. The results showed there were many barriers and delays to being diagnosed. These included a lack of awareness at the primary care level and a lack of coordination of care. The task of finding doctors also often fell on the patient. The solutions to these problems are not simple. It is impossible for doctors to be aware of every rare condition. Instead, they need to be educated on how to find the right information to help a patient. Management of rare conditions could also be improved through the creation of centres of expertise. These could coordinate the care a patient requires.  

BHD Syndrome International Registry 

Katie Nightingale, Charity Officer at the BHD Foundation and Myrovlytis Trust, presented her work developing the BHD Syndrome International Registry (BIRT). This poster has been approved and published at the European Conference on Rare Disease & Orphan Products 2022 and republished here with their permission.  

BIRT is needed to generate high quality patient data that can drive forward research. The overall aims are to: 

• Improve quality of life for BHD patients. 
• Facilitate faster diagnoses and reach a consensus on diagnosis and management guidelines. 
• Help develop treatments or a cure for BHD. 

Anyone with BHD can take part in the registry and help to advance research into BHD.  

We were delighted to be able to join the conference and present our work. We would like to thank the organisers of the conference for hosting such a thought-provoking event. We are committed to improving the quality of life of those with Birt-Hogg-Dubé syndrome. We look forward to what the future holds for improving diagnosis, care and treatment of rare diseases.