Commissioners for the Rare Diseases International (RDI) Lancet Commission on Rare Diseases Gareth Baynam, Kym M Boycott, Lucy Mckay and Kirsten Johnson (who is also FraXI’s president) have collaborated on an article highlighting the importance of using empathetic language in dialogues about rare conditions. Read the full article on empathetic language here. 

Families who receive a diagnosis of a rare condition are no stranger to the distant and negative language used by clinicians, healthcare professionals, educators, policymakers, and researchers when describing their loved one. Individuals with Fragile X Syndrome and their families in particular get shoved into an abyss of doom and gloom at this stage of their diagnostic journey. They are told that they will have a lesser than normal IQ, frightened into thinking that they will have a decreased quality of life and limited access to everyday opportunities that are essential to living an independent life. Indeed, FraXI co-authored an article on how to deliver a diagnosis in a helpful, holistic way. 

The authors of this Lancet article argue that combatting these false ideologies and stigmatic thinking, and instilling positivity in such families starts with the language we use to talk about rare conditions. Medicine knows what causes Fragile X Syndrome. But only families know the reality of living with it. Therefore, when describing a rare condition such as FXS, stakeholders must be careful to make kinder choices with their words. For example, putting the person first, drawing attention to how therapies and interventions can be great support mechanisms, highlighting strengths that have been recognised by research in individuals living with the condition and simply assuring families that they are not alone are key. 

The following are recommended priority actions by the authors to improve use of language concepts and style in rare conditions:

• Mandate training in empathetic, person-centred, and family-centred communication and deep listening that embraces lived experience expertise for all clinicians working with people and families living with rare conditions.
• Formally integrate lived experience expertise with an equal mandate and authority in clinical governance and research frameworks (lived experience experts).
• Accelerate global adoption of standardized, interoperable disease classifications and ontologies (eg, International Classification of Diseases 11th Revision amendments specific to rare disease and ORPHAcodes) to eliminate coding barriers.

Promote the use of the Operational Description of Rare Diseases and deliver an Operational Description of Undiagnosed Rare Diseases to streamline policy and resource allocation.As the authors note, the language we choose to use when talking about a rare condition can ‘build a bridge or create a wall.’ Adopting a pledge to refrain from using ableist terms and phrases that decenter the person from their rare condition is a small but powerful way in which we can all make a difference. People with rare conditions are not broken- they do not need to be fixed. If anything, what needs fixing is the way we talk about them.