Announcing a new initiative for rare disease day 2020
People living with rare medical conditions encounter challenges at every step — starting with whether their disease is even formally recognized in the scientific community. These challenges continue through diagnosis and care. Each of these steps requires a formidable breadth and depth of knowledge and the skill to apply that knowledge. Even for diseases that have been published by scientists, quality reference data may not exist and a physician might only see one such patient in her entire career.
A disease is considered rare if it affects fewer than 1 in 200,000 people in the US, or fewer than 1 in 2,000 people in Europe. Symptoms range from several kinds of cancer, to neurological, skin disorders, and diseases affecting the lungs. According to the Orphanet, a portal for rare diseases, most of these have no cure. Of the known rare diseases, about 80% have an established genetic cause, while the remaining 20% are thought to be caused by environmental factors, like infections. Approximately half of the people with a rare disease are children.
It is not even known how many rare conditions exist or what their collective public health impact is. Our estimates are that there are more than 10,000 diseases affecting as many as 10% of the population. It is therefore likely that most, if not all, healthcare professionals have seen rare disease patients in their practice but may not have always known it. Often a patient with a rare condition gets misdiagnosed as having a more common ailment with a similar set of symptoms. In such cases, the misdiagnosis can lead to ineffective, or even harmful treatment; this is a danger even for people who have rarer forms of a common disease. From the time a patient with a rare disease first sees a doctor to the time of correct diagnosis averages 4.8 years, but can take up to 20 years. During this time, on average, the patient will see more than 7 physicians.
What is Rare Disease Day?
February 29 is Rare Disease Day, a day devoted to raising awareness of rare diseases, learning from the people living with these conditions, and promoting the research that is being done to find treatments. Rare Disease Day began in 2008 in Europe by EURORDIS and the Council of National Alliances as a day to raise awareness about rare diseases and the people living with them. The day also raises awareness for policy makers and health professionals.
Now in its 12th year, Rare Disease Day shines a light on the need for international collaboration between researchers and clinicians. Since there are so few patients with a particular rare condition, increasing communication around the world can link these isolated patients together, building a support system and increasing knowledge about their shared disease.
Announcing Rareaware.me
Monarch is pleased to partner with Pryzm Health on a newly-formed research initiative dedicated to empowering people living with rare conditions: The Rareaware.me platform enables participants and families to create rich descriptions of their condition and its progression over time. The high quality information that people contribute can yield immediate insights for those living with the condition, while also advancing scientific understanding and global definition of these conditions. By addressing crucial information gaps, together we can improve the speed and accuracy of diagnostics, advance the understanding of disease mechanisms, and accelerate development of suitable treatments.
