New study 2020

The burden of searching for a diagnosis in non-diagnosed 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 gain a better understanding of how to improve quality of life from a 360-degree perspective.

Method

A clinical and psychosocial study that will use information provided directly by patients and their caregivers through 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. That's why we need you: join the community and participate in research!

Step 1

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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 during all these years of living with the reality of a daughter with functional

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 so that other families 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, those who still do not have a diagnosis.

Edu