New study 2020

Disease burden of undiagnosed patients from a holistic perspective

Motivation

Patients without diagnosis can have a wide range of symptoms. A misdiagnosis or a delayed diagnosis can have a serious impact on their quality of life.

Objectives

A better understanding of the symptoms experienced by undiagnosed patients will allow us to group them and analyse the burden of disease. This will help us to identify unmet needs and improve their quality of life from a 360-degree perspective.

Method

A clinical and psychosocial study that will analyse information provided directly by patients and their caregivers through the use of validated scales to report on quality of life data.

Research is the heart of Share4Rare. By working together we can help to advance the research efforts in rare diseases. This is why we need you. Join the community and participate in research!

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Hospital Sant Joan de Déu logo
https://www.sjdhospitalbarcelona.org/en
World Duchenne Organization
https://www.share4rare.org/es/node/add/registration_landing
Universitat Politècnica de Catalunya
https://www.upc.edu/en?set_language=en
Objetivo diagnóstico
https://es-es.facebook.com/objetivodiagnostico/
The talk inside Share4Rare
Bruna was diagnosed with a very uncommon genetic condition: a 19p13.3 deletion

I can also contribute with my practical and emotional experience adquired during all these years living with a daughter with functional diversity

Natalia, Bruna's mum

Litza recently contacted us from Mexico to tell us about her daughter's case.

I am willing to contribute as much as I can to help my daughter and other families so they do not feel as bad and lost as I feel.

Litza, Mia Regina's mum

When Edu was born he could not open his eyelids, but doctors did not find that a reason for not discharging him from hospital.

This project is very important for the people of our association and for all those people who are like Edu and still do not have a diagnosis.

Sandra, Edu's mum