Because it manifests itself only rarely, Duchenne muscular dystrophy (DMD) falls within the rare diseases category. It is also a treatment orphan disease. Since this is February, it is pertinent for us to tell you about it.
Rare Disease Day takes place on the last day of February each year. The primary objective of Rare Disease Day is to raise awareness among the general public and decision-makers about rare diseases and their impact on patients’ lives.
Building awareness of rare diseases is important because 1 in 20 people will live with a rare disease at some point in their life. There is no cure for the majority of rare diseases, and many go undiagnosed. Rare Disease Day improves knowledge amongst the general public of rare diseases while encouraging researchers and decision makers to address the needs of those living with rare diseases.
The first Rare Disease Day was celebrated in 2008 on 29 February, a ‘rare’ date that happens only once every four years. Ever since then, Rare Disease Day has taken place on the last day of February, this month is known for having a ‘rare’ number of days.
This information was provided by rarediseaseday.org.
A few distinctions …
- A rare disease is defined as a disease that affects less than 1 in 2000. DMD affects 1 in 3500, which makes it a rare disease.
- The RQMO estimates that, in Quebec, nearly one in 20 is afflicted by or carrier of a rare disease, for a total of almost 500,000 Quebecers. Many rare diseases are chronic, progressive and fatal. The CORD estimates approximately, 3 million Canadians and their families face a debilitating disease that severely impacts their lives.
- Nearly 75% of these diseases affect children, and about 80% of them are genetic.
- The term “orphan disease” is often confused with the term “rare disease” because the vast majority of rare diseases are orphans in many ways.
- A medical condition is referred to as an orphan disease if there is no treatment for the disease other than treating the symptoms. For example, prednisone is a medication that affects the symptoms but not on the cause of the disease.
The rarity of these diseases creates obstacles and needs for afflicted people both in our health system and in society in general.
The Quebec Coalition for Orphan Diseases (RQMO) works to provide information and support to patients, their families, and healthcare professionals. Their website is full of relevant information both for professionals and caregivers. These rare diseases are often of little interest to researchers and organizations who fund research. The RQMO aims to advance knowledge about the various rare and orphan diseases by promoting exchanges between patients and researchers.
The Canadian Organization for Rare Disorders (CORD) is Canada’s national network for organizations representing all those with rare disorders. CORD provides a strong collective voice to advocate for health policy and a healthcare system. CORD works with governments, researchers, clinicians and industry to promote research, diagnosis, treatment, and services for all rare disorders in Canada.
February 28th is the Rare Disease Day to raise awareness amongst the general public and decision-makers about rare diseases and their impact on patients’ lives.
We wish to emphasize that the information contained in this article come mainly from the RQMO website, the CORD website and the Rare Disease Day website.
We thank them.
About DMD
Duchenne muscular dystrophy (DMD) is a disease that affects boys almost exclusively and whose incidence is 1 in 3,500. It is extremely rare that Duchenne muscular dystrophy (DMD) will affect girls. Those affected are usually diagnosed around the age of five, but symptoms may be visible from early childhood. It is a degenerative disease of the muscles caused by a genetic mutation. Duchenne muscular dystrophy (DMD)—for which no treatment is currently available—directly affects skeletal muscles. Without treatment, the consequences of the disease are dire for those afflicted and their families. More about DMD here
