Quick explanation of the disease
It is a genetic condition that is characterized by bone fragility that causes repetitive fractures.
It is a rare disease affecting about 10,000 to 20,000 people.
The most severe forms can be seen during pregnancy (intrauterine), while the less severe forms may appear only in adulthood. Generally, the first fractures occur when learning to walk. The most frequent fractures are those of the long bones (femur) but also flat bones (ribs, vertebrae). Some may cause respiratory problems (respiratory failure). According to its severity (type 1, type 2, type 3 and 4), this disease can cause various difficulties (deafness from the age of 6 years, fragility of the skin and capillaries, etc.).
There is currently no treatment for a definitive cure of this disease. As soon as it appears, it is essential to do rehabilitation in order to fight the pain and to maintain a little autonomy by ensuring muscular development. Parents take classes to safely handle their children.
How to live with it?
This of course depends on the severity of the disease. The benign forms are compatible with a normal life as long as high-risk traumatic sports are avoided.
Concerning schooling, most children are accommodated in special structures where possible so they can benefit from an individualized follow-up, with protocols to follow in case of emergency!
In terms of work, not all countries offer adapted support in order to qualify for disabled worker status or a stipend for disabled adults if they are unable to work. This means that most people cannot work and are a financial burden for the family.
Source : Orpha.net
Equipe des Projets Rosalie