The only way to understand people with rare and orphan conditions is to listen to them...

During my 15 years practice as a patient advocate I have listened to many stories. Most of them are “I do not know about my condition”. As the burden for patients suffering from any form of a rare disease typically starts with a late diagnosis. Finding and engaging these patients early with a sophisticated, robust, inexpensive and easy diagnostic workflow remains a challenge.

Some stories are about “I am the only one in my country who is ultra-rare”. In many cases, ultra-rare diseases remain a mystery to researchers, with limited models or guidance, little research and a poor understanding of the natural history of the disease.

Many patients with rare diseases suffer from multi-system dysfunction, without effective treatment, and are likely to require complex care. Multiple factors lead to additional physical and psychological impairments for patients and families. These are the stories “My family and I need constant psychological and physical support” and “I encounter social and emotional challenges unique to my condition”

However, there are unique stories, as “I don’t want to be diagnosed” or “I don’t want my children to know”. And I’m asking myself, what we should change or do as a community better in order to be able to address these concerns. What is our way together?

Adding here my painting inspired by Lenny’s own story. Lenny was born with a rare congenital malformation of the esophagus called esophageal atresia. Many even rarer complex complications, life-threatening episodes and many surgeries later he still can't eat and lost the ability to walk. Lenny lives with his family in Southern Germany and the picture was taken in 2017, the painting I finished in 2018.