Calls to test for Fragile X condition affecting one in 250 women

Calls are being made to encourage GPs to test patients for Fragile X syndrome, a genetic condition that stands as the most common inherited cause of learning disability. Experts have highlighted a concerning lack of awareness surrounding Fragile X syndrome, which is triggered by a gene alteration on the X chromosome, impacting the production of a crucial brain development protein. Statistics from the Fragile X Society reveal that approximately one in 250 women and one in 600 men are carriers of the abnormal gene responsible for Fragile X syndrome. Female carriers face a higher risk of early menopause, with a 50% chance of passing on the condition to their offspring, while affected men transmit the condition only to their daughters, not sons.

The Fragile X Society estimates that Fragile X syndrome affects around one in 4,000 males and one in 6,000 females, leading to various developmental challenges. Pete Richardson, managing director of the Fragile X Society, emphasised the pressing issue of limited awareness surrounding Fragile X syndrome, highlighting that carriers of the Fragile X pre-mutation may remain unaware of their condition. Individuals with a family history of Fragile X syndrome, intellectual disability, developmental delay, or autism of unknown cause, as well as those with infertility problems associated with elevated follicle-stimulating hormone levels or premature ovarian failure, are at an increased risk of being carriers.

Richardson stressed the need for medical professionals to consider Fragile X syndrome as a possible cause when women exhibit signs of premature menopause, calling for a change in the current approach. It is recommended by the Fragile X Society that individuals who suspect they may carry the gene request a Fragile X (FMR1) DNA test from their healthcare providers. The story of Alex McQuade, a parent who raised concerns when her children missed developmental milestones, serves as a stark reminder of the importance of early detection and awareness of Fragile X syndrome. Mrs McQuade’s journey to understanding her children’s conditions was marked by a lack of genetic discussions with healthcare professionals, underscoring the need for improved education and testing for Fragile X syndrome.

These revelations shed light on the urgency to enhance knowledge and testing for Fragile X syndrome among healthcare providers and the general population. The experiences of families like the McQuades serve as poignant reminders of the impact that timely detection and awareness can have on those affected by genetic conditions.