The Portuguese Association for Congenital Disorders of Glycosylation and Other Rare Metabolic Diseases (APCDG), together with a CDG & Allies Professionals and Patient Associations International Research Network (CDG & Allies - PPAIN), launches a scientific, pioneering and international study entitled “CDG Journey Mapping”, which intends to know the journey of people living with Congenital Disorders of Glycosylation (CDG), and their families, and ultimately aims to improve CDG quality of life.
In this study, composed of two surveys, it is possible to understand the path that patients and their families take from the first symptoms to the diagnosis; their concerns and needs; as well as the strategies adopted to live with this type of disease.
“This investigation is unique, because it explores aspects never studied before: in addition to mapping the functional and clinical aspects, it also collects the emotional aspect, which is a very important part of the process. Actually, the emotional journey is what gives the true holistic view of the person who goes through this journey ”, says Vanessa Ferreira, founder of APCDG and co-founder of the CDG & Allies PPAIN network.
According to Cátia Neves, researcher at the CDG & Allies PPAIN network, this is also a way for families to realize that they are not alone in this journey, and that there are people who are really interested in understanding them. “For us, people living with CDG and their families are not just numbers,” affirms.
In order to assist families in responding to inquiries, educational materials such as glossaries and a section dedicated exclusively to the most frequently asked questions, were prepared and made available. For the first time, preliminary survey results will be made publicly available as they are analyzed and shared on WorldCDG.Org.
The results of scientific research will be announced at the 5th edition of the World Conference of the CDG, which will take place from 13 to 16 May. Registrations can be made, until April 1st, through the link https://worldcdg.org/world-conference-cdg/registration
To respond the survey, you can do so at https://worldcdg.org/research/cdg-journey-mapping