CDG CARE Family Grant Opportunities!
CDG CARE is currently accepting applications for our Family Education and Medical Travel Grant Program! This program provides funding for individuals diagnosed with CDG or NGLY1 and their families to: 1) attend a CDG Family Conferences in the USA; 2) participate in specific CDG clinical trials to advance CDG/NGLY1 research; or 3) improve access to a clinical consultation with a CDG medical expert due to unique and/or urgent medical circumstances. Please CLICK HERE to download the travel grant application form!
**Travel support for patient participation in the Epalrestat Clinical Trial for PMM2-CDG families will be processed directly by the Mayo Clinic. For additional information and questions regarding this trial, please contact Jessica Ward at Ward.email@example.com or (507) 266-9619.
CDG CARE is delighted to announce that the third round of funding through Emmett’s Legacy Fund was a success! This year’s program will provide over $25,000 of much needed medical equipment and support to 14 families located throughout the USA, Canada, Mexico and Brazil!
Emmett’s Legacy Fund was created to remember and honor the life of Emmett Nguyen, who was born in April 2016 with PIGA-CDG. Emmett was loved by everyone around him, and fought through multiple illnesses and hospitalizations during the course of his short life. Emmett’s parents created this fund as a celebration of his life, and as a way to make a meaningful impact on the lives of other children diagnosed with CDG & NGLY1-deficiency. Through this program, families, around the world, with a confirmed CDG/NGLY1 diagnosis can apply for support to obtain medical/therapy equipment to improve the quality of life of their loved one. The next round of Emmett Legacy Fund applications submissions is anticipated to occur in February 2024.
Patient Friendly Resources
The Life of a Special Needs Sibling: CDG CARE is honored to offer the rare disease community this educational and supportive family resource webinar. You can view the presentation on the CDG CARE YouTube Channel HERE, and/or access the pdf version of the slides with links to each sibling resource by clicking: CDG CARE 2021 Webinar 2_Life of a Special Needs Sibling
The updated “Just the Facts” series slides are now available! To bring our CDG Community the key facts, statistics, and current data for all that you need to know about CDG – in abbreviated form, of course! To access the most updated version of CDG facts, CLICK HERE for the slideshow and CLICK HERE for the pdf!
*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!
2013 – 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.
2013 – 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 in the United States and worldwide?
In the United States, we estimate that there are close to 350 diagnosed cases of CDG. Globally, the estimate is in the range of 1,800 patients.
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”.