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Researcher claims to be optimistic about research for Phelan-McDermid syndrome

Diagnosis: a basic right

by Andreia Bessa - Lawyer House of the Rare early diagnosis is a fundamental right of people with rare diseases and represents the starting point for access to treatment, social inclusion and full human dignity. In Brazil, more than 13 million people live with these conditions, often facing years...

Understand how the service at Casa dos Raos works

seeking a diagnosis can be a lonely path, “but in the house of the rare, this journey is managed with care and organization,” says Franciele Trapp, coordinator of the host sector, the medical superintendence of the Raros House (CDR). The manager explains how the entity's aide process...

Psychology: How to deal with the diagnosis of a rare disease?

receiving the diagnosis of a rare disease is always a striking moment, loaded with uncertainty and need for adaptation. The challenge, according to psychologist Daniele Lima Rocha, is to welcome emotions and seek lighter paths. The psychologist stresses that the patient should not be charged for...

“Today my son has quality of life”: a mother's account of rare disease

my name is Dina Pinheiro da Silva and I'm the mother of Kalebi Júlio Martins, my 9-year-old boy, who was born on June 16, 2016. We lived in Novo Hamburgo, Rio Grande do Sul, and a few months ago our life changed a diagnosis that took years to arrive: Duchenne muscle dystrophy (DMD), a rare...

Early diagnosis and specialized care motivate CDR work

House of the rare details genetic conditions most identified by your team

New “rare connections” informative modernizes communication on genetic diseases