For the full article by M. Lucía Morán, Asunción Monsalve, Yolanda Fontanil, Alice Bacherini, Giulia Balboni, and Laura E. Gómez, please click here

What is Quality of Life (QoL)? 

You may have come across the term “Quality of Life” or QoL as, quite simply, a measurement of the ‘goodness’ or ‘badness’ of one’s life. It was introduced by the WHO in 1994 as a concept to analyse “the personal perception of an individual of his situation in life, inside the cultural context and values in which he lives, and in relation with his aims, expectations, values and interests”. It has since been perceived as a far more complex measuring tool, now incorporating how physical, psychic, and social aspects may have an impact on one’s functioning and perceptions of health.

QoL of people living with rare conditions 

Rarely has the QoL measurement been applied to the world of those whose reality is living with a rare condition. This study makes a valuable contribution to evolving literature on understanding QoL from the point of view of a person who lives with a rare condition. While it finds that overall QoL scores are generally positive in terms of material and physical well-being, there remains the challenge of overcoming social exclusion and enhancing self-determination. Personal and contextual variables that significantly impact QoL, such as sex, level of support needs, percentage of disability, and the size of the organization providing support were also identified. The study underscores the necessity of integrating a gender perspective in developing strategies and programs to ensure equitable opportunities, as well as the importance of equipping organizations with sufficient resources so that they can offer inclusive, person-centered services

Our QoL is more than just our physical health

For families living with FXS, it is no surprise that challenges that arise following a diagnosis of the condition extend well beyond the walls of a clinic. Traditionally, QoL has vastly shed a spotlight on physiological health concerns. The authors contend that QoL outcomes should also take into account factors such as decision-making, social inclusion, gender equality, and equal paths to independent living. The FXS community formed the largest cohort in the study. Data revealed a greater need for emotional support, education on how to navigate interpersonal relationships, and guidance on how to make decisions about finding one’s own path to independent living. The study also found that the sample of girls and women living with rare conditions recorded lower QoL scores than their male counterparts, revealing experiences of intersectional discrimination- they experienced higher degrees of unequal treatment because of their disability coupled with their gender. 

The authors of this study urge future research involving QoL outcomes to incorporate factors such as social inclusion, independent living, decision-making, and gender equality. It was also observed that these results came from a cohort belonging to one country. Expansions of such studies beyond Europe may reveal important geocultural aspects that impact this broader range of QoL outcomes in the world of rare conditions.