Leighee Eastbury's two sons were diagnosed in 2012 with Fragile X syndrome, a heritable genetic condition that causes intellectual disability, behavioural and learning difficulties, as well as various physical features.
Prior to starting her family, Eastbury, who has a family history of Fragile X, decided to undergo genetic testing to find out if she was a carrier of the mutation responsible for most cases of the condition. After a referral for chromosomal testing, she attended Macquarie Pathology Services in 1999 and was informed a few days later by telephone that the result of the test was negative.
Both her pregnancies were normal, but after her eldest child started showing signs of language difficulties around the age of 2, he was diagnosed with autism with later blood tests revealing the Fragile X mutation. Her youngest child was then also subsequently diagnosed with the mutation.
Eastbury is suing Genea Genetics, formerly Sydney IVF, who performed the test, for the additional costs of raising and caring for the children attributable to their disability. She is also suing for the mental distress the parents have suffered as a result.
The case was heard by the Supreme Court of New South Wales in December 2014 in respect to extending the limitation period for the claim and in March 2015 on costs. In its submissions, Genea claimed that at the time it was only capable of chromosomal analysis to test if someone was affected by Fragile X, and not carrier status testing, and that Macquarie lab was aware of this. However, the court heard that relevant documents held by Macquarie, which has since ceased to operate, had most likely not been kept.
Justice Hall in 2014 noted, however, that Genea had received a request to test for 'carrier status' but had not informed Macquarie that it could not fulfil that request, simply reporting that 'no abnormalities [had been] detected'.
Meanwhile, Syndey's Daily Telegraph reports that Eastbury is now seeking pre-trial damages to cover the costs of looking after her disabled sons. The newspaper says that Mr Eastbury was made redundant from his AUS$113,000-a-year job as a railway signal engineer and is now earning about AUS$30,000.