GFM1, Manon’s disease
Manon lives with GFM1, the name of the gene affected in her. This gene normally makes a protein that mitochondria need to work properly. When it is deficient, cells can no longer produce their energy correctly: the condition is known as GFM1 deficiency encephalopathy. It is an extremely rare mitochondrial disease, affecting only a handful of identified children worldwide.
What is a mitochondrial disease?
Mitochondria are tiny structures found in almost all of our cells. They act as “energy factories”: they convert what we eat into energy the body can use.
In a mitochondrial disease, these factories don’t work properly. The organs that need the most energy (the brain, muscles and heart) are often affected first. These diseases are rare and genetic, and symptoms vary a lot from one child to another.
How it shows
Symptoms vary greatly from one person to another. In children, they may include:
- a developmental delay in movement and/or speech;
- muscle weakness (low muscle tone);
- difficulties with coordination and balance;
- significant fatigue.
There is currently no cure. Care aims to support the child’s development, preserve their comfort and stimulate their abilities.
The therapies that help Manon
The charity funds complementary approaches, often not reimbursed, that make a real difference every day:
Physiotherapy & the MEDEK method
To build motor skills, muscle tone and balance.
Psychomotor therapy
To support the connection between the body, emotions and environment.
Conductive education
A holistic, playful approach that helps the child become more independent in everyday movements.
Equine therapy
Contact with horses stimulates balance, confidence and well-being.
Communication with Makaton
A language based on signs, images and pictograms that allows communication before or alongside speech.
Learn more
Rare diseases are the subject of active research. Part of the charity’s funds is donated to research.