SERVICES FOR FAMILIES

Support &
Resources
Today we found ourselves in a unique moment of our activities. The APCDG-DMR is actively recruiting family members and professionals in a  volunteer basis to get involved in invaluable projects aimed at supporting families:

- generation of patient friendly material,
- organisation and involvement in CDG-centered events, 
- encouraging community-building,
- increasing awareness and visibility activities for these group of pathologies.

In addition, we ensure exchange and access to quality information sources including current research, publications from scientific and medical journals, clinical trials, orphan drugs, therapies and therapeutic approaches, public health policies, rehabilitation procedures and, coordination of patient care and support. This information is monthly updated through our blog and facebook page

CDG patient-friendly resources:

Practical guide targeted to CDG families (96 pages):
Our organization created, wrote, recruited and coordinated this project. An international team of volunteers formed by 22 physicians, scientists and family representatives made it possible!

Fairy-tale: "Glycoland and the coloured antennas":
Our role: recruitment and management  of 20 volunteers to translate the fairy tale in 11 languages

Available at:

The chapter of the book Royal Society of Chemistry: Congenital Disorders of Glycosylation (CDG): from glycoproteins to patient care. Due to copyright rules it is available under request at sindromecdg@gmail.com

e-Learning course dedicated to glycobiology: Social impact of congenital diseases of glycosylation:

Youtube channel World CDG Conference-Updated information about advances in basic and applied CDG research:

Advanced information:
Pubmed
Orphanet
ClinicalTrials.gov
European Clinical Trials Database (EudraCT)

Events for CDG
and rare disease community
The goals are:
  • To empower CDG families: A family-friendly program and oral presentations are designed.
  • To increase knowledge related to areas previously identified as of major importance for affected families, thus contributing to patient-centered decision making process. 
  • Partnering with similar association to achieve goals 
  • To redefine families needs 
  • To shape research based on families concerns and needs

The main topics covered are:
  • Screening and testing
  • New diagnosis and therapeutic advances
  • Management of symptoms
  • Re-education and rehabilitation
  • Current and Future Policies on RDs
  • New diagnosis and therapeutic advances
  • Management of symptoms
  • Healthcare services

Several patient representatives, their organisations and professionals work in partnership performing operational and administrative tasks in a volunteer basis to ensure that specific objectives are efficiently delivered:

We successfully organised several events with a national, regional and international scope.