There are now more than 7000 recognized rare and ultra-rare diseases, several of which can be highly debilitating and potentially fatal. For many of these diseases, early diagnosis is critical. Unfortunately, patients typically struggle for many years before being correctly diagnosed. For some patients, this may mean the difference between life and death.


Working with the guidance of experts, focused on a specific type of genetic ultra-rare disease, we developed a successful disease-awareness campaign. The ambition was to save lives by quickly and effectively educating a wide range of health-care professionals on the impact of the disease and the need for rapid, accurate diagnosis.


Through a series of interlinked activities, we have reached hundreds of health-care professionals. The educational meetings have provided an in-depth, interactive, educational experience for health-care professionals from across Europe, the Middle East, and Africa, with a massive 93% reporting an increase in diagnostic capability. Importantly, we observed a four-fold increase in patients with the disease being identified, versus the previous year, as a result of our campaign. That’s great news for patients, and a fantastic start.