This time we focus on a main issue for patients and families: the evaluation of the impact of the disease on their quality of life on a physical, psychological, and social level.
Rare diseases, within their complexity and heterogeneity, usually have a high impact on the quality of life of the people who suffer from them. To improve this quality of life and reduce the burden of the disease, in addition to trying to understand the biological mechanisms, origin, or symptomatology, we need to understand. How it affects the daily life of the patient and family. And for this, research is needed.
In this new chapter of The Science of the Singular Let’s examine the research done to find out the HE impact of disease on the quality of life in patients with rare diseases we will talk to people who have participated in these types of studies so that they can tell us about their experience, such as Manuelwhose daughter Blanca has spinal muscular atrophy type 2or Elisabeth, who suffers from several endocrine diseases, two of which are rare. Manuel and his family helped validate the Libra Pediatric Quality of Life Inventory (better known as PedsQL) at Sant Joan de Déu Hospital. To find out what this standard is and more tools designed to collect data on the quality of life we speak with Joaquín Fagoaga, physiotherapist and researcher at this hospital with four decades of profession behind him. We also chatted with Dr. Susan endocrinologist at Sant Pau Hospital in Barcelona and a researcher at CYBER. Susan treated Elisabeth and published many works that have helped increase awareness of the impact on the quality of life of patients with rare endocrine disorders. As we see in the chapter, the contribution of information to families and patients is essential to carry out these studies.
The podcast “The Science of the Singular” is an initiative of Share4Rare and the Center for Biomedical Research Network for Rare Diseases, CYBER. Subscribe to our Spotify and iVoox channels to receive notifications of the release of new chapters.