Our long-time volunteer Christele du Souich spoke with CBC Radio-Canada's Line Boily on L'heure de pointe in Toronto on February 27the about Rare Disease Day and the many challenges that face the Rare Disease Community.
La journée mondiale des maladies rares a lieu tous les 29 février, la journée la plus rare du calendrier. 2015 n'étant pas une année bissextile, la journée sera soulignée le 28 février. Christèle Du Souich, conseillère en génétique
Please click on the link below to connect to the L'heure de pointe website & audiofile for the story.
The Rare Disease Foundation is pleased to be a supporter of the 2105 Media Planet UK and European rare disease day campaign. Watch for links to the campaign from our website, Twitter and Facebook accounts, and read the article submitted by our own Isabel Jordan to the European publication.
Parents don't know where to turn when faced with a diagnosis of a very rare or unique condition. If a relevant disease-based organization exists, it may be national or international in scope and other affected families may live far away. The Rare Disease Foundation can help at a local day-to-day level. Our parents have found that they have much to offer each other, regardless of diagnosis.
The statistic of 1 in 12 (or 1 in 10) people being affected with a rare disease is often quoted but its basis is rarely explained. We believe the actual chance of someone being affected with a rare disease in their lifetime (called lifetime prevalence) cannot be determined as there are not enough people trained to diagnose rare diseases and some conditions are either too severe to be compatible with life or are quite mild so are missed. There are also a large number of rare diseases waiting to be described so any estimate is likely to be an underestimate. One could even say every disease is rare because the genome, environment and lived experience of each patient form a unique constellation. With these caveats in mind, we calculate the lifetime prevalence of rare diseases at between 1 in 12 and 1 in 13 by:
3. Adding the prevalence of major birth defects and intellectual disability in the population (5%, range for this estimate is 2.3% to 6%).
Many people tell us they do not think that 1 out of every 12 people they know has a rare disease. We believe our estimate does not match common experience because a lot of children with rare diseases do not survive and because a lot of people who have rare diseases look completely normal to the outside observer. MP/2014