Palabras clave: enfermedades minoritarias

Finding cures for CDG starts with Awareness. Support 16th May as World CDG Awareness Day!

Congenital Disorders of Glycosylation (CDG) is a group of rare and unknown diseases and although more patients are diagnosed with CDG and also new types of CDG are discovered, there is still an under- or misdiagnosis. There is also no medicine for CDG. It’s therefore important that CDG gets worldwide attention. Patients, family members, patient organisations and healthcare professionals are joining forces in order to hold an annual World Congenital Disorders of Glycosylation Awareness Day on 16 May.

The official poster iA4_WCDGAD_02_worlds now available. The poster features Tereza (Czech Republic) and Phila (Finland), who are living with CDG.

This worldwide action aims at helping us reinforcing our request directed to the World Health Organization (WHO) to declare officially 16th May as the annual World Congenital Disorders of Glycosylation (CDG) Awareness Day!

How to get involved?

There are easy and simple ways to get involved in the 16th May 2016 World Congenital Disorders of Glycosylation (CDG) Awareness Day. Please visit our official Toolkit available HERE.

  1. Share and spread the press release available HERE
  2. Get more signatures for our request among the WHO HERE
  3. Go social during the World Congenital Disorders of Glycosylation (CDG) Awareness Day.
    • Hashtag like crazy using the world hashtag for 2016: #WorldCDGDay2016
    • Use our facebook and twitter cover and profile Photo, the Email signature and Share the suggested social media posts available HERE
  4. Print our handprints, take a photo and share it on our available photo gallery and social media (Facebook and Twitter).

Vanessa Ferreira

5.Talk about CDG within local schools, medical and research institutions, in your workplace and so forth. Expose the 4 infographics (see them below) dedicated to CDG or give talks using the slide decks for this goal.

4 posters

6. Go green! Think CDG!© is a CDG community campaign that encourages people to use green to show support for children and adults affected with Congenital Disorders of Glycosylation (CDG). All information HERE

go green think CDG

7. If you volunteer for our actions, you can use the toolkit specially done for you.

8. Advocate for CDG among government leaders, or the news media using our resources available HERE.

9. Help us covering the World CDG Awareness Day map, send the details to us by filling the form below and we will post it on our website HERE.

16 May World Congenital Disorders of Glycosylation Awareness Day. Show you care, be aware!

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Congenital Disorders of Glycosylation (CDG): common challenges and opportunities with other Rare Diseases

Congenital Disorders of Glycosylation (CDG)… If you have not heard of it, that is because it only affects about one in 20,000 people, which means that it is a Rare disease.
Like the majority of rare diseases, CDG are chronic serious genetic, life-altering and often life-threatening or fatal diseases due to multiple organ failure. 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. In fact, despite the rapid advances in the field of Rare Diseases, fewer than 5% of rare diseases have drug therapies available . Most of rare diseases, like CDG, still have no treatment options at all. Taking the risk on a drug for these childrens 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 needs to be given. Please learn more about this disease and major advances and opportunities in the field of rare diseases:

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¡DALE FUERZA, DALE VIDA!

La clasificación de una enfermedad minoritaria puede llegar a recordar un juego de Matrioskas rusas: siempre sorprende que pueda quedar por sacar una muñeca aún más pequeña.

La Distrofia Muscular Congénita por déficit de Colágeno VI, una enfermedad muy minoritaria pero que no entiende de sexo, raza o país, es un buen ejemplo de ello. Está dentro del subgrupo de enfermedades minoritarias Distrofias Musculares Congénitas (DMC), que a su vez forman parte del grupo heterogéneo de Enfermedades neuromusculares, finalmente incluidas en la gran familia Patologías humanas.

Supe de esta enfermedad gracias al magazine semanal del Colegio de Biólogos de Barcelona, al leer una noticia sobre la Fundación Noelia “Niños contra la DMC por déficit de Colágeno VI”. Quedé inmediatamente atrapada e impactada al leer en la página web de la fundación el testimonio de la madre de Adrià, quien lo describía como un niño tímido, pero alegre y con mucha ironía, al que le gusta jugar con sus amigos y que tiene un espíritu de superación muy grande, pero que padece esta grave enfermedad.

Decir en voz alta que nuestro hijo está enfermo y que su enfermedad no tiene cura, es la cosa más difícil que he hecho nunca. Todos hemos oído hablar de las enfermedades raras o minoritarias pero nunca nadie se espera tener que vivirlas de tan cerca.

En motivo de la celebración del Día de las Enfermedades Raras o Minoritarias el 29 de febrero, pero sobretodo con la intención de contribuir a dar a conocer esta enfermedad tan desconocida a la sociedad, he querido dedicar el trabajo de infografía del máster y este post a esta enfermedad, y a todas aquellas personas que como Adrià y sus padres la sufren día a día.

¡Dale fuerza, dale vida!

 

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