Palabras clave: enfermedades raras

Proudly supporting 16th May is the World Congenital Disorders of Glycosylation (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.

In the light of the lack of awareness and visibility for Congenital Disorders of Glycosylation (CDG), the world CDG community takes the step to formally request from the World Health Organization (WHO) the declaration of an anual World  Congenital Disorders of Glycosylation (CDG) Awareness Day.  The World Congenital Disorders of Glycosylation (CDG) Awareness Day campaign aims to:

  • Be the platform to promote CDG awareness, visibility and advocacy efforts
  • Promote and synergize CDG research
  • Be the global driver to boost coordinated and concerted actions to confront CDG as a critical global health issue

To make 16th May an annual official day, the World Health Organisation (WHO) must first give its approval. It’s not so easy to make that happen and that’s why we are asking you for help. 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.

And you…. How are you planning to join us for the World Congenital Disorders of Glycosylation Awareness Day on 16 May?

Check our tips now!

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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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May 16, 2016: Show you care, be aware! World Congenital Disorders of Glycosylation (CDG) Awareness Day

Presentation

CDG Awareness is like the sun. When it shines on things, they are transformed”. adapted from Thich Nhat Hanh.

The World Congenital Disorders of Glycosylation (CDG) patients voice is an united community dedicated to fight against the impact a rare disorder called Congenital Disorders of Glycosylation (CDG). If you have not heard of it, that is because is a Rare disease. 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 identified with PMM2-CDG, suggesting that many CDGs cases are under-or misdiagnosed than what is documented.

In the light of the lack of awareness and visibility for Congenital Disorders of Glycosylation (CDG), the world CDG community takes the step to reinforce our request among the World Health Organization (WHO) to get the declaration of an annual World  Congenital Disorders of Glycosylation (CDG) Awareness Day.

To achieve this, we will celebrate May 16 as World  Congenital Disorders of Glycosylation (CDG) Awareness Day! We are happy to share the top 9 Tips to spread the word worlwide for CDG!

Congenital Disorders of Glycosylation (CDG) urges all those who feel committed, especially patients and families, and directly those working in health, education, and social and legislative areas to express their support for the application for our annual World Congenital Disorders of Glycosylation (CDG) Awareness Day by organizing events, signing the public online petition, reading our manifesto and sharing information amongst your contacts.

Sign and share our Online Public Petition to support 16th May (day of birth of Pf Jaeken’s, the medical doctor that reported the first CDG patients more than 30 years ago) available HERE

 

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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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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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Enfermedades raras, genética y genómica en Scoop.it

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Las enfermedades raras en la era de la genómica

Desde la secuenciación del genoma humano en el año 2001 se han producido grandes avances en la investigación, ‘un auténtico boom’, según los expertos. Genómica, genética, biología molecular, biología sintética… son términos asimilados por una sociedad cada vez más concienciada -o preocupada- por la salud. El año 2014 acabó con dos hitos relacionados con la investigación genómica: la creación de dos nuevas letras artificiales del ADN que los científicos del Instituto de Investigación Scripps (EEUU) consiguieron introducir en bacterias tipo E. coli; un descubrimiento que permitirá modificar artificialmente el ADN para desarrollar tecnologías y medicamentos y que se convirtió en la investigación favorita de los lectores de Science. Y la puesta en marcha del proyecto 100.000 Genomas, con el que el Servicio Nacional de Salud del Reino Unido prevé obtener información para conocer y entender las patologías más devastadoras: el cáncer y las enfermedades raras. Entre la creación de vida artificial y el intento por comprender la vida real, investigadores y afectados por enfermedades raras confían en que la genómica se fije en ellos. Dicen los científicos que el potencial de la genómica no tiene límites pero ya hay quien alerta de la necesidad de cuestionar las prioridades. Continuar leyendo

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