This year, for IMRD (International Day of Rare Diseases), focus on diagnostic wandering which affects many patients to raise awareness and inform us. And contrary to popular belief, rare diseases are not rare! There are nearly 7,000 of them and they affect around 3 million people in France, or one in 20 people. The vast majority of rare diseases, most often genetic, begin in childhood. But adults are not spared.
Rare diseases and diagnostic wandering
Often serious and disabling – myopathy, Charcot disease, etc., many patients are in diagnostic limbo for several years. The multiple symptoms can in fact mask these rare diseases and lead to delays and even diagnostic errors. With serious consequences on daily life.
Rare Diseases Info Service listens to you and supports you
Diagnostic wandering is therefore this year at the center of the awareness campaign led by the Rare Disease Alliance and the AFM Téléthon. A day to make these still invisible diseases visible and also – and perhaps above all – to inform people who are wandering that there are solutions and that they can call Rare Diseases Info Services on 0 800 40 40 43 . A team of doctors and scientists is there to listen to them, answer all their questions and direct them to specialized medical services. It will put them in contact with other patients, which also allows them to feel less alone and isolated in these most difficult times.
 Pascale Pommier de Santi
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23/02/2024 | 
