INFORM: New screening test for inherited Fragile X syndrome

When Kerry Moore’s first son, Oliver, wasn’t reaching the usual developmental milestones for a 6-month old baby, she raised her concern with her paediatrician. Understandably, she was shocked when the test for Fragile X returned a positive result.  At that stage, she’d never heard of this genetic condition – sadly, a condition that can result in behavioural challenges and intellectual disability.

Upon learning more about Fragile X, Kerry realised that she was a carrier for the condition, which means she’d passed on a ‘fragile’ X chromosome with a mutation. Both males and females can be affected, but the symptoms are more pronounced in boys, who only have the one X chromosome. For girls, their normal X chromosome can compensate in many ways for the abnormal X chromosome, so that often, affected girls may only show mild learning difficulties.

Typically, children with Fragile X receive lots of targeted intervention from specialists, including occupational therapy, speech therapy and physiotherapy, which all help with their development. While there are typical symptoms, it’s worth remembering that each child is unique, and not all Fragile X children will share the same profile. For example, autism and epilepsy are often linked to Fragile X, but Oliver doesn’t show symptoms of either.

Now 15 years of age, Oliver has the intellectual capacity of a 4 or 5-year-old child. He doesn’t speak, other than very short sentences of 2-3 words, and suffers high levels of anxiety. He attends Ashwood School, which has been very supportive, allowing Oliver to learn life skills that will aid his independence.

Oliver, Jonathon (Kerry's husband) and Kerry.

Oliver, Jonathon (Kerry's husband) and Kerry.

Oliver is a happy, family-oriented teenager with a great sense of humour, who thrives on task-oriented activities and loves helping around the house. His concentration is limited, so he isn’t able to follow a game of footy or watch a movie. But bike riding is a different story – Oliver has proudly mastered this activity, so it’s become an enjoyable and inclusive pastime for the whole family.

Parenting can be challenging with all teenagers, but Oliver’s challenges are different to your average teenager – teaching Kerry a new level of patience. However, he’s very content, and unaware of his differences; therefore, many typical teenage worries are not a concern for Oliver – he lives in his own little bubble. But for Kerry, his lack of awareness is a heart-breaking reminder of the severity of his condition.

You may have seen Kerry interviewed on TV recently, as she’s been promoting the benefits of having the genetic screening test for Fragile X. This test has been around for 5 years, but is not routinely offered to women who are thinking about starting a family. It’s a straightforward non-invasive test – either conducted as a blood test or a saliva swab – and alerts women to the fact they may be a carrier for Fragile X: according to the statistics, 1 in 250 women carry the gene. If you return a positive result, you’ll be informed about the condition and can then choose whether or not to use IVF to screen embryos.  

Reassuringly, there’s a lot of community support for families with Fragile X children, and Kerry generously volunteers a significant amount of her time for the Fragile X foundation. If you’d like to find out more, visit: fragilex.org,au

 

Links to Recent Media Coverage
 

Channel Ten Eye Witness News 31 July 2017

Sydney Morning Herald 31 July 2017

ABC Radio - The World Today 31 July 2017     

The Age

ABC News

ABC News Radio