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Make the voice of Congenital Disorders of Glycosylation (CDG) heard for the International Rare Disease Day

Congenital Disorders of Glycosylation (CDG) are one of the fastest growing groups among the more than 8000 rare diseases currently known.  If you have not heard of CDG, that is because it only affects about one in 20,000 people, which means that it is a Rare Disease (RD)! You can imagine the loneliness of having CDG, a disease that most people have never heard of, that most forms has no treatment, and that few laboratories are dedicated to find cures.

To break the isolation and to raise awareness for rare diseases like CDG, the Europe an Organisation for Rare Diseases (EURORDIS) organizes the International Rare Disease Day. The activities are done in collaboration with numerous worldwide partners aimed at highlighting the rare diseases as a global priority health challenge. This year the International Rare Disease Day takes place, on the rarest day of the year, on February 29th.  Although, activities are done throughout the month of February. The theme for 2016 is: “Patient Voice: Join us in making the voice of rare diseases heard”.  Several online resources  to help spread the word that 29 February 2016 is the Rare Disease Day, are now available. This includes the 2016 Rare Disease Day video.

The video celebrates the special moments in the lives of people living with a rare disease. Source: Rare disease day website.

“Society needs to know that Congenital Disorders of Glycosylation (CDG) is a serious cause of death and disability. Patients and family members, suffer directly the consequences of living with a disease, for which the most forms do not have a cure. Then, because of the high variety of CDG symptoms and the resemblance to other diseases, diagnosis of CDG is very demanding and may take many years. This has a big emotional impact on families lives.” highlights Rosália Félix, mother to an adult CDG patient and vice-president of the Portuguese Association for CDG.

To combat part of the challenges faced by the CDG community, the Portuguese Association for CDG (APCDG), has announced several initiatives targeted for the International Rare disease day. This includes: courses during the “Think Metabolic, Think Congenital Disorders of Glycosylation (CDG)” Academy, the launch of its online World CDG Awareness toolkit , the public petition  directed to World Health Organization (WHO) to declare 16th May as the annual World Congenital Disorders of Glycosylation (CDG) Awareness Day and the launch of the new website sections focused on education, resources and research.

“CDG is the prototype of condition that cries out for urgent training, education and awareness-raising actions”, emphasizes Alfredo Ferreira, father to a CDG patient (Portugal).

The “Think Metabolic, Think Congenital Disorders of Glycosylation (CDG)” Academy is an initiative of the Portuguese Association for CDG (APCDG) is done in partnership with CDG key opinion leaders and specialized institutions and university clinics with long-standing experience in research, diagnosis and management of CDG. This year, three Portuguese cities, Beja, Lisbon and Porto, will put spotlight on CDG by hosting the courses focused on this rare disease.

The courses include several keynote sessions given by distinguished Portuguese and international speakers. Pf Jaak Jaeken (Belgium), medical doctor that first reported CDG in the medical literature in 1980, will give an overview of CDG. Pf Eva Morava (USA and Belgium) and Pf David Cassiman (Belgium) compose the prestigious international panel of speakers. Other topics will be addressed, including immunological aspects of CDG, diagnostic algorithms for CDG and the challenges encountered by families and professionals in this field. In addition, clinical cases will be shared and discussed. The ultimate goal of these courses is to promote accurate diagnosis and to share experience in the management and outcome of CDG.

Another initiative is the World CDG Awareness toolkit designed for patients, patient groups, and anyone interested in making the CDG voice heard among media, government and related stakeholders. The freely-accessible toolbox includes CDG disease facts, infographics, videos, materials that can be easily used on social media like the CDG awareness Facebook cover, the email signature that support the World Rare Disease on behalf of the CDG community, print-ready materials and so forth.

Super hero girl awareness link

Several tips to raise CDG awareness using social media and other resources are now available to be used by families and friends willing to make the CDG heard! Source: Portuguese Association for CDG.

The APCDG, is also leading the petition directed to World Health Organization (WHO) to declare 16th May as the annual World Congenital Disorders of Glycosylation (CDG) Awareness Day. The manifesto and the communication material are publicly available for CDG patient advocacy groups, their representatives, families, friends and professionals to support this public petition.

CDG Logo_HCH_Awareness_RGB
CDG International Awareness Symbol.
Source: Portuguese Association for CDG

“The patient-driven initiatives recently launched show our efforts to increase awareness for CDG. The patients, families and professionals suffer the direct consequences of the limited awareness that CDG has among the society.” says Rosália Félix, Portuguese Association for CDG.

Last but not least, the APCDG developed several website sections aimed at giving visibility to the ground-breaking work performed by this non-profit organization. These sections are focused on education, resources and research. Of special interest, is the recently formed CDG Professionals and Patient Associations Working Group (CDG-PPAWG). This research platform was formed with the help of a broad network of scientists, physicians and patient advocacy groups. A unique patient-led unrivalled infrastructure for research and treatment of CDG, was formed. Accelerating research into cures is the main goal.

Families and professionals, are embracing the challenges of  CDG. United, they make an important difference in the lives of patients and their family members.The voice of Congenital Disorders of Glycosylation (CDG) in 2016, will be heard!

Find out more about the Portuguese Association here

Sign the Public Petition  directed to World Health Organization (WHO) to declare 16th May as the annual World Congenital Disorders of Glycosylation (CDG) Awareness Day

For more information on Rare Disease Day, you may visit http://www.rarediseaseday.org

How to get involved? Learn about the 7 ways to get involved!

What is happening at worldwide level? Learn more about the global initiatives supported through rare disease day.

 

 

 

 

 

 

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