Patient Friendly Resources
CDG CARE Grant Opportunities!
We are excited to announce that through continued funding and donor support, we are launching a new 2019 Family Education and Medical Travel Grant Program! This program will provide funding to individuals diagnosed with CDG and their families to: 1) attend the upcoming 2020 CDG Family Conference in the USA; 2) participate in specific CDG clinical trials to advance CDG research; or 3) improve access to a clinical consultation with a CDG medical expert due to unique and/or urgent medical circumstances. Please stay tuned for more information and the application forms that will soon be available for this important new program!
*Children’s Hospital of Philadelphia (CHOP) launches new educational website for families on the East Coast diagnosed with CDG! To learn more about the CHOP Center for CDG and services provided by Dr. Andrew Edmondson and his Team, CLICK HERE.
*For our families who have been diagnosed with PIGA-CDG, we are honored to share a very unique resource that has been developed by members of the growing PIGA-CDG Community. Please visit their website by CLICKING HERE and learn about advancements in PIGA research, obtain educational materials, communicate through a message center and view and share a very helpful whiteboard video that helps to explain PIGA-CDG!
In full collaboration with CDG families and professionals around the world, the Portuguese Association for CDG has many resources in different languages now available! We sincerely thank and acknowledge all of the volunteers who helped create these materials and are grateful to offer them as important resources to our global CDG Community.
Learning Giraffe is an innovative and playful company created to develop entertaining and educational apps for all children, regardless of ability. Learn more about Silly Spin ABC and the inspiring story behind the journey to develop Learning Giraffe.
First World CDG Conference Videos
Copyright © BIOcomuniCA’T. “First World CDG Conference”, an event coordinated by the Portuguese Association for CDG in partnership with associations and/or country CDG patient advocates. Videos sponsored by FoG (Canada). All rights reserved.
First World CDG Conference Summary
Copyright © Authors: Mercedes Serrano (neurologist at Metabolic Guide and ePACIBARD project coordinator), Maria Antonia Vilaseca (Content Coordinator at Metabolic Guide) and Vanessa Ferreira (President and founder of the Portuguese Association for CDG and related Rare Metabolic Diseases). English Version Correction and Revision: Jaak Jaeken (Emeritus Professor at the KU Leuven, Belgium). All rights reserved.
© Hospital Sant Joan de Déu. Guia metabolica. All rights reserved.
CDG Holiday Gift Guide – for links to a variety of great gift ideas any time of year!
Practical Guide for CDG Families
Copyright © Author and coordinator: Vanessa Ferreira (Associação Portuguesa CDG e outras Doenças Metabólicas Raras). Revision of overall English translation and content: Donna Krasnewich M.D., Ph.D. (Program Director, NIGMS, NIH, USA). All rights reserved.
CDG Awareness Kit
Copyright © Authors: Vanessa Ferreira (President and founder of the Portuguese Association for CDG and related Rare Metabolic Diseases), Bas Holten (CDG advocate Netherlands) and Andrea Berarducci (CDG CARE President, Community and Parent Representative). All rights reserved.
Frequently Asked Questions
How many cases of CDG are known worldwide?
We have no exact figures but the published cases figure around 600 for the N-glycosylation disorders. There are many more patients reported with a known O-glycosylation disorder (multiple exostoses, Walker-Warburg syndrome, muscle-eye brain disease, etc) but again it is very difficult to obtain exact figures. All together (known and unknown CDG) I guess that an incidence of 1 in 5000 births may be a minimum estimate. Responder: – Jaak Jaeken, MD, Ph.D. 07/27/11
How many cases of CDG are known in the United States?
In the United States, my guess is that there are close to 175 cases. In the past 16 months, I have heard about 35 affected children that I didn’t know about before. Because there is no registry, this number is difficult to estimate. Many children are doing well and their physicians are taking excellent care of them, therefore, these families may not come to the attention of the organized CDG community. Responder: – Donna Krasnewich M.D., Ph.D. 08/24/11
What is a stroke-like episode?
A stroke-like episode is an acute event that very much resembles a stroke. A stroke is a sudden loss of consciousness due to an acute vascular disturbance caused by the rupture of an artery in the brain or its obstruction by a blood clot (embolism or thrombosis); we think that in CDG these episodes are due to a transient local thickening of blood. It can present in several ways: drowsiness, dulness, subcoma, coma, paralysis (on one side(hemiparesis, hemiplegia) or on both sides), loss of vision.
Are there ever any long lasting effects?
These episodes can last for hours, days or sometimes even longer. However, the positive thing is that, as a rule, they are transient.
What action should parents take during one of these episodes?
Action to be taken: measure body temperature and ask your (or another) physician to examine your child as soon as possible in order to make the diagnosis and to take appropriate measures.
Who is likely to have a stroke-like episode and when are they likely to occur?
In the CDG field all the patients with CDG-Ia have an increased risk for thrombosis because their blood platelets have an increased tendency to stick together and to stick to the wall of blood vessels; for the other CDG-I patients this risk is probably also increased but this has not yet formally been proven also because we know only a small number of these patients. These episodes are most likely to occur on occasion of an infection (viral or bacterial); so these episodes are often accompanied by fever.
Is there a suggested therapy to prevent of help these episodes?
Medical treatment and prevention are possible but it is up to the treating physician to decide about the treatment.
What is the difference between a stroke-like episode and a seizure?
A seizure is the expression of an abnormal electrical activity in the brain (stroke is a vascular problem) but can resemble very much a stroke. Other words for “seizures” are “epilepsy” and “convulsions”.