Lack of awareness and visibility is one of the biggest challenges for the rare disease community.
While public awareness and understanding of rare disease challenges has increased in recent years, much remains to be done. Limited awareness and visibility of CDG contributes to underdiagnosis of these disorders, as well as difficulties in accessing specialised services and proper rehabilitation support. Early diagnosis of CDG is important for several reasons such as the timely management of clinical problems, genetic counseling, and when available, treatment. Thus, CDG is the prototype of condition that cries out for visibility and awareness-raising actions targeted for families, professionals and general public.
The events targeted to society are some of our ongoing projects aimed at boosting awareness and visibility.
Our major goal is to increase the knowledge on rare diseases from multiple perspectives, from the clinicians, the researchers involved in basic and clinical studies, the pharmaceutical organizations, the patient’s association and public in general. In this way we intended to foster stronger partnerships among researchers and health care professionals involved in the management rare diseases.
Guia Metabólica in Portuguese: this 2.0 platform has two major aims (1) to facilitate the access to information and (2) to create an interface for people involved in IEM.
The content consists of:
Currently, the APCDG is working with a group of highly motivated Portuguese families, friends and healthcare professionals, who volunteered to translate part of the content from Spanish to Portuguese.
World CDG-AED program 2015-2017 (CDG–Awareness. Education. Diagnosis)
Vanessa Ferreira, PhD, MBA (Portuguese Association for CDG and related rare metabolic pathologies)
Collaborators: Families and CDG professionals
Graphic designer: Diogo Sampaio
Raising Awareness for Congenital Disorders of Glycosylation.
Shaping the future “World CDG program 2015-2017”.
Why? CDG awareness can dramatically reduce the time to a diagnosis. Better diagnoses will allow health care teams to reduce or prevent patient complications, to develop tailored treatments, and to provide more accurate genetic counselling to families.
Goal: Raising awareness and aid diagnosis of CDG amongst trainee doctors and related healthcare professionals.
How? Several posters translated in 11 languages for families and physicians will be disseminated to help identify CDG symptoms. A list of major labs involved on CDG diagnosis will be provided.
Access to our resources for awareness in the resources section of our website.
Educational Program of Excellence on CDG:
3 workshops held during the World Rare Diseases celebrations 2016.
Why? Many CDG cases continue unrecognized or misdiagnosed.
Goal: To improve CDG knowledge by appropriate education, training and information resources aimed at developing health professionals’ skills to make appropriate referrals and to be informed when to consider that a patient may have CDG.
How? Several workshops with tailored-programs will contribute to change the mindset that a health professional will never come across patients with rare diseases.
The panel of speakers will be formed by prestigious Portuguese and International professionals. Amongst them, the local co-organisers, Pf Jaak Jaeken (Belgium), Pf Eva Morava (USA), Dr Dulce Quelhas and Dr Paula Videira (Portugal) and so forth.
Funding the first line of CDG diagnosis.
Why? Many CDG cases continue unrecognized or misdiagnosed.
Goal: To improve CDG diagnosis by awareness and appropriate education. Consequently, we expect that the number of suspicious CDG cases will increase.
How? By funding samples suspicious of CDG.
Fomenting the research on rare diseases is essential to pave the way for therapeutic approaches and development, since for most of the patients there is still no treatment. In addition, experience says that any knowledge on the mechanism underlying rare diseases and its pathological manifestations will be beneficial, not only for those patients but also other patients with related pathological symptoms. Our patient-initiated research model:
CDG & Allies – Professionals and Patient Associations International Network (CDG & Allies – PPAIN):
With the help of a broad network of scientists, physicians and patient advocacy groups, we have established a unique, sustainable , national and internationally unrivalled infrastructure for investigation and treatment of CDG.
What are the specific objectives?
The CDG & Allies – PPAIN is open to any CDG patient advocacy group, researchers or physician keen to harmonize and improve diagnosis and care received by citizens with CDG. Currently, our members are:
A Biocosmetic for CDG Biomedical Research
A Biocometic for CDG Biomedical Research fundraising campaign
By buying NABIA's (more information visit HERE) products you will be contributing to CDG Research projects. So your product will have a purpose even after it has long disappeared
The official campaign email, available for orders is: firstname.lastname@example.org
NABIA is a Portuguese start-up that R&D natural, hand-made biocosmetics and will devote 10% of their sales to fund the research done under the scope of our CDG & Allies – Professionals and Patient Associations International Network (CDG & Allies-PPAIN, for more information visit HERE).
Updates and developments will be announced in APCDG (Facebook Pages, LinkedIN and Twitter) and ©NABIA (Facebook Page) social media channels.
CDG Tea gift with donation campaign
Helping affected children’s and adults, is just a click.
Go to http://www.apcdg.com/get-involved1.html
Anna Lund, mother to Elmer who suffers from CDG, invented the CDG Tea with the aim of collecting donations to suffer research and increase awareness. She partnered with several CDG Patient Associations. Amongst them the Portuguese Association for CDG (APCDG). Together, we set up the “CDG Tea gift with donation campaign” is intended to support several research projects. Amongst them :
One CD=One live CDG
Luis Miguel Corrales, the grandfather of a child with an undiagnosed rare condition and the vocalist of this extraordinary project. He has partnered with the APCDG-DMR to launch this music CD with the title “For you, always", comprising well-known Latin American songs.
Due to the rarity and complexity of CDG, public sector funding for research continues to be limited. To overcome this major barrier, the Portuguese Association for CDG leads several fundraising actions.
The funds collected allowed us to:
Maria Monticelli, was the candidate awarded with the Liliana Summer Research Scholarship 2015, a merit-based scholarship program focused on Congenital Disorders of Glycosylation (CDG).