In preparation for the events leading up to the first World CDG Awareness Day in 2016, the CDG Community launched an effort to gain support to officially declare May 16th as World CDG Awareness Day from the World Health Organization (WHO). The following manifesto outlines the specific details surrounding the aims and impact that such an official declaration will have for our Community.
Manifesto targeted to the World Health Organization (WHO)
The World Congenital Disorders of Glycosylation (CDG) patients’ voice is a united community dedicated to the fight against a rare disorder called Congenital Disorders of Glycosylation (CDG). If you have not heard of CDG, it is because it is an ultra-rare disease. There are currently over 130 different types of CDG, and the most common type of CDG, named PMM2-CDG, affects about one in 20,000 people. So far, only around 900 patients have been accurately diagnosed with PMM2-CDG, suggesting that many CDG cases remain under or misdiagnosed. CDGs are chronic serious genetic, life-altering and often life-threatening or fatal diseases due to multiple organs being affected. The type and severity of problems associated with CDG vary widely among affected individuals, sometimes even among members of the same family . Walking, jumping, climbing ladders, running, reading, talking amongst other activities, prove to be difficult, often impossible in the majority of patients. The impact of this disorder goes beyond the physical manifestations of the disease. It includes economic burden, decreased productivity (both patient and caregivers), reduced social functioning, and lowered quality of life.
Despite the rapid advances in the field of rare diseases, fewer than 5% of rare diseases have drug therapies available .
Thus, most rare diseases, including most forms of CDG, still have no treatment options at all. Taking the risk on a drug for CDG children and adults may not promise returns as high as common drugs. Additionally, scientists are making great progress each day, but more funding for CDG research is needed.
CDG patients are among the 36 million Europeans living with rare diseases. A disease in Europe is defined as rare, also known as an orphan disease, if it has a prevalence of less than 5 per 10,000. In the USA, a disorder is defined as rare when it is one that affects fewer than 200,000 individuals, or one in 10 Americans . Rare diseases are believed to affect more than twice the number of all U.S. cancer patients! At least 30 million Americans and 36 million Europeans are affected by one of almost 7,000-8,000 orphan diseases .
The list of rare diseases increases by about 250 each year  (an average of five new conditions discovered every week ). It is estimated that approximately one out of five people personally know an individual suffering from a rare disease . Indeed, it has been projected that for the top 350 rare diseases, approximately 27% of patients will not reach their first birthday . This highlights the huge societal impact of these diseases.
You can imagine the loneliness of having CDG, a disease that most people have never heard of, that most forms have no treatment, and that few laboratories are dedicated to find cures. By adding Congenital Disorders of Glycosylation to the health topic list of the World Health Organization and related governmental bodies, this will also open doors for other common disorders such as cancer! It will create awareness, access to resources and create opportunities for funding and research.
AWARENESS for CDG is key, to accelerate therapeutic options! Please join us!
Help us raise CDG awareness globally and add your name to our petition to declare May 16th World CDG Awareness Day!
REMEMBER, the overall World Congenital Disorders of Glycosylation (CDG) Awareness Day campaigning materials may not be used for commercial or fundraising purposes.
Sources used to elaborate this manifesto: