The joys of fragile X: Understanding the strengths of fragile X and delivering a diagnosis in a helpful, holistic way

Abstract

The purpose of this article is to provide a positive framework for a doctor, geneticist, genetic counsellor or other professional to deliver a fragile X syndrome diagnosis and to offer support thereafter. Our aim is not to glamourise the condition nor downplay its impacts but rather to suggest that a more accurate and holistic definition of fragile X syndrome would cover all the aspects of the condition, including its variability and positive aspects. Fragile X syndrome is commonly described in terms of the ‘problems’ associated with it and stigmatic language is used. Instead, we believe that giving diagnosis and support in a holistic and family-centred way is imperative. In delivering a fragile X syndrome diagnosis, the strengths of those living with fragile X syndrome should be the starting point, encouraging development that builds on those strengths while supporting the areas of need. This article will set out these more positive aspects of fragile X syndrome to assist those providing a diagnosis of fragile X syndrome. Lay abstract The purpose of this article is to provide a positive framework for a doctor, geneticist, genetic counsellor or other professional to deliver a fragile X syndrome (FXS) diagnosis and offer support. Our aim is to give a more accurate and holistic definition of FXS. This would cover all the aspects of the condition, including its variability and positive aspects. FXS is commonly described in terms of the ‘problems’ associated with it and stigmatic language is used. Instead, we believe that giving diagnosis and support in a holistic and family-centred way is important. In delivering a FXS diagnosis, the strengths of those living with FXS should be the starting point. These strengths should be built on at the same time as supporting areas of need.