Everything to understand and act
We provide you with a set of resources to better understand MED13L syndrome and navigate the world of rare diseases.
Understanding Rare Diseases
A condition is defined as rare when it affects fewer than 1 in 2,000 people, thus requiring a specific approach for diagnosis, treatment, and care coordination. In France, these conditions are a major public health issue, with over 7,000 identified rare diseases affecting approximately 3 million people, or 4.5% of the population.
50%
affect children under 5 years old
80%
are of genetic origin
9%
lead to a total loss of autonomy
Rare diseases are generally severe, chronic, and progressive. They significantly impact quality of life, with motor, sensory, or intellectual deficits in 50% of cases. The term "orphan disease" specifically refers to a rare condition with no known effective treatment.
Resources and Support
MED13L Webseries
A 10-episode series to understand MED13L syndrome, its challenges, and its impact on families' daily lives.
Information Brochure
A PDF brochure for families, relatives, professionals, and teachers.
Official PNDS
The National Diagnostic and Care Protocol (PNDS), validated by the French National Authority for Health (HAS).
Private Facebook Group
Join our community of families to exchange and share your experiences.
Rare Diseases Info Services
The national information and guidance service for rare diseases. Accessible Monday to Friday at 0 800 40 40 43 (free call).
Alliance Maladies Rares
A French collective of over 200 patient organizations mobilized to raise awareness and recognition of rare diseases.
DéfiScience
Healthcare network coordinating 42 reference centers and 71 competency centers for neurodevelopmental disorders. Expert diagnosis and personalized support.
Need help finding the right resources?
Don't hesitate to contact our team. We are here to guide you and direct you to solutions tailored to your situation.
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