AFM-Téléthon has just published a Repères Savoir & Comprendre dedicated to mitochondrial diseases. The aim of this guide is to provide information on medical aspects as well as practical solutions for daily life, featuring numerous testimonials from the people concerned.
In an effort to untangle the complexity of mitochondrial diseases, AFM-Téléthon, in collaboration with experts from healthcare reference centers, has just published a Repères Savoir & Comprendre “Ma maladie” (Guide: Knowledge & Understanding “My Disease”) entirely devoted to these conditions (in French).
Understanding these diseases and their management
Patients, families, caregivers and healthcare professionals will find in this document descriptions of how mitochondria function and dysfunction, as well as an overview of the main clinical manifestations of their associated disorders. It also highlights the role of healthcare expert centers, the diagnostic journey, and key aspects of care –physiotherapy, cardiac and respiratory follow-up, nutrition, management of pain and cognitive disorders, psychological support, etc.– as well as the importance of anticipating emergency situations.
How patients and families overcome daily challenges
But beyond the scientific and medical aspects, “the document also makes substantial room for patients and families,” emphasizes Vincent Procaccio, Professor of Genetics and head of the NeuroMitOmics (NeMO) research program at Angers University Hospital. They share their experiences and, above all, their solutions in several areas of daily life: education, personal assistance, administrative formalities, family planning, peer support, and more. Topics that often present significant challenges to overcome in order to improve quality of life with these diseases.