FX Newsletter December 2020 - out now!

Our newsletter is a great roundup of our latest news, and it's a terrific read! An update on clinical trials for Fragile X syndrome in the US and Australia. News on some significant changes to the NDIS proposed for 2021. Fragile X Achievement Awards 2020. Recent publications on Fragile X disorders. The launch of a Fragile X premutation research registry. Open employment pathways support for people with intellectual disability. Update on funding of reproductive genetic carrier screening for Fragile X syndrome, cystic fibrosis and spinal muscular atrophy. Family stories of living with Fragile X syndrome.

Genetic Carrier Screening for Fragile X, Cystic Fibrosis and Spinal Muscular Atrophy

Recommended for public funding

A recommendation has been made to the Health Minister Mr Greg Hunt that reproductive genetic carrier screening for Fragile X syndrome, cystic fibrosis and spinal muscular atrophy be listed on the Medicare Benefits Schedule. This is an important step towards carrier screening for FX, CF or SMA becoming available to every woman considering pregnancy. The recommendation follows advocacy by Fragile X Association of Australia, Cystic Fibrosis CommunityCare and Spinal Muscular Atrophy Australia and a submission by the Royal College of Pathologists of Australasia.

International Day of People with Disability

A time to raise awareness, understanding and inclusion of people who have a disability.

3 December is International Day of People with Disability. It is a day to celebrate everyone who has a disability. Our short documentary film Stuart X was released publicly online a year ago for International Day of People with Disability. It tells the story of Stuart who, for much of his life, struggled to secure a diagnosis and an understanding of his intellectual disability.