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Rare diseases: the “obstacle course” to identify these pathologies… not so rare

2024-02-29T06:23:22.324Z

Highlights: More than three million people suffer from so-called “rare” pathology in France. Many of them, like Marie who suffers from Rendu-Osler, are in hospital every month. From now on, there is “a chance in two” that his daughter will be affected too. “Psychologically, it’s complicated because we inevitably feel guilty,” confides the 51-year-old from Bordeaux, supported daily by her husband.


More than three million people suffer from so-called “rare” pathology in France. Many of them, like Marie who suffers from


“The nurses are nice, is that where you eat the bad pasta?”

» Marie smiles, remembering the question asked by her 8-year-old daughter, Blanche, when she was visiting the hospital to take a genetic test.

Or rather a “cenetic” test, as the little girl had written on a paper where she had listed her “boos”.

Marie knows these premises well, she is infused there every month.

Because she suffers from a so-called “rare” genetic vascular disease, that of Rendu-Osler, diagnosed after more than thirty years of “medical wandering”.

From now on, there is “a chance in two” that his daughter will be affected too.

“Psychologically, it’s complicated because we inevitably feel guilty,” confides the 51-year-old from Bordeaux, supported daily by her husband, Nicolas.

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Source: leparis

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