What we do
We are working to raise awareness of CDG
We are the national charity supporting those affected by Congenital Disorders of Glycosylation (CDG). Partnered with the UK Genetic Disordered Partnership Network, we support UK patients and families.
We want to raise awareness of this extremely rare group of diseases and to reach out to other families who are affected by CDG.
Our objectives are:
- to raise awareness of this extremely rare disease and to reach out to other families who are affected by it. As more health professionals have become aware of CDG, more children and adults are being diagnosed in the UK, and as we know that a rare diagnosis can be isolating, and we wish to extend a hand of friendship to others facing the same.
- to raise funds for research into this group of currently untreatable diseases. According to Professor Jaak Jaeken, the first professional to identify CDG, ‘the rewards are many but the workers are few’. In other words, there is so much to be learnt about CDG and so much more that can be done in terms of diagnosis and possible therapies, but there are only a few researchers and doctors working in this area at the moment. With funding, we wish to change this by collaborating with researchers and health professionals with one end goal: a cure for CDG.
How we can help
We were set up in 2013 by the parents of affected families so we understand what is important. We know that a rare diagnosis can be isolating, and we wish to extend a hand of friendship to others facing the same situation.
The family stories on our community page tell of different family journeys to diagnosis and living with CDG.
We provide information and resources, including practical advice on care, via our website and by newsletters, and we arrange an annual family day, where CDG families can meet up informally to discuss issues that only CDG families can!
Get external support
We can provide you with practical advice and support so please get in touch. The Portuguese Association for CDG have created this Practical Guide for CDG families, which you may find useful for background information on CDG.
Please get in contact if you would like to sign up to the newsletter or join the Facebook group.
We work with top specialists and other charities to stay informed about the latest developments and promote CDG research. We work closely with our patron, Dr Stephanie Grünewald of Great Ormond Street Hospital (UK), and Dr Donna Krasnewich of the National Institute of Health (USA).
Birmingham Children’s Hospital is home to the UK’s first rare disease centre where children and young people with rare diseases can access highly coordinated multidisciplinary and multi-specialty rare disease clinics together with peer support and consistent access to research, information and treatment: https://bwc.nhs.uk/rare-diseases
We also work in partnership with the Portuguese Association CDG and Rare Metabolic Diseases (APCDG-DMR), a global voice to fight the impact of Rare Metabolic Diseases on affected individuals and their families. Every two years they host the World Conferences on CDG for healthcare professionals and families.
Also on Facebook, is the CDG Global Alliance. This is a private group where families from all over the world communicate and share their stories. This is a very active and supportive forum, and members are very responsive to any questions you post. There are also CDG professionals who are members of the group giving expert advice. CDG Care, a USA based organisation run this group: www.cdgcare.com.
Other countries also have CDG organisations, and a list of these can be found at www.rareconnect.org/en/community/cdg/members.