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Genetic Justice – Fragile X

Recently one of our senior medical lawyers appeared in the Supreme Court on an application in a Fragile X case- Eastbury v Genea Limited.  Our client – Leighee Eastbury the mother of the children with Fragile X  – sought genetic screening to discover whether she was a Fragile X carrier before embarking on a family. Our client’s uncle had inherited Fragile X syndrome and had intellectual disability.  Her GP requested chromosomal testing for carrier status and upon testing, our client was informed that the test results were negative.

Buoyed by the positive results, Leighee Eastbury and her husband started their family and gave birth to two boys who were subsequently diagnosed with Fragile X syndrome.

It subsequently transpired that Leighee Eastbury was in fact a Fragile X carrier. The laboratory which had performed the genetic screening was not testing for carrier status. Rather it had performed a very different test – to see if our client had Fragile X. It was this test which had the negative results. The laboratory neither passed on the request for carrier testing to a facility which could test for carrier status nor conveyed to the referring GP the limitations of the test it had performed.

Both sons of Mr and Mrs Eastbury inherited Fragile X syndrome and live with intellectual disabilities, language, emotional and behavioural problems all of which require high levels of ongoing care.

The case has already attracted media attention following other applications made along the way – this article appeared in the Sydney Morning Herald in February.

Fragile X syndrome has been described as the leading cause of inherited intellectual disability. Affecting males more commonly than females, it is estimated that 1 in 4000 males has Fragile X syndrome.

According to the website of the Fragile X Association of Australia, the most significant symptoms are developmental delay, intellectual disability and behavioural and learning problems. Some of the behavioural traits are common to those with autism – no doubt because Fragile X syndrome is the most common single gene cause of autism worldwide: see http://fragilex.org.au/what-is-fragile-x/.

It will in all likelihood take some years for the case to be finalised. The parents therefore sought what is known as an interim payment to cover the costs of caring for the boys until the case can be heard.

Another interesting aspect of the matter was the consideration given to the impact of the NDIS on the application for an interim payment. It was argued by Genea that there was insufficient evidence of need for an interim payment given the possibility that many of the services our clients claim they need assistance to fund would have been covered by the NDIS scheme. Ultimately this argument was not accepted by Justice Harrison who noted that whilst the NDIS would offer some benefits to the family,  it was not known what those payments would be.  View the decision.

Visit the Fragile X Australia page.

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