A Melbourne couple is suing the Royal Children’s Hospital for failing to diagnose a genetic disorder in their first child – an error they allege caused them to have another child with severe disabilities.
In a case highlighting the complexities of genetic testing, the couple is also considering legal action against a cousin who knew they were a carrier of the condition affecting their family, Fragile X Syndrome. The cousin allegedly withheld the information even though other family members were at risk of having children with the condition.
The couple, who do not want to be named, said that after their first born showed developmental delays, doctors at the Royal Children’s Hospital conducted several genetic tests in 2009 through the Victorian Clinical Genetics Services (VCGS).
However, the couple said the doctors did not test their baby for Fragile X, even though there were allegedly signs of the disorder, which is the most common known cause of inherited developmental disability. The disorder is the next most common cause of developmental problems after Down Syndrome.
It was not until the couple had a second baby that a friend suggested they ask for a Fragile X test. When they asked the RCH paediatrician caring for their first born about this, the doctor agreed to investigate. A genetic test soon revealed both children had the condition.
The couple was shocked and said when they met doctors and genetic counsellors to discuss the implications of the diagnosis, there was no explanation for how they missed the condition in their first born. This was despite the doctors knowing the couple wanted to have a second child when they were seeking an explanation for their first-born’s problems. They later received a letter from VCGS apologising for taking so long to diagnose their first born.
“Many weeks after our children’s diagnosis, a cousin admitted that she had known ‘for years’ that she was a carrier of Fragile X,” the father said.
He now suspects this cousin and her husband knew of her carrier status before their first child was born. He believes they chose not to disclose the information to other family members.
The two professionals said that if they knew of their carrier status before trying to have children, they would have either not had a baby or chosen to pursue IVF technology that selects embryos unaffected by it. They could also have explored the use of donor eggs.
They said they had been deeply traumatised by their interaction with the RCH doctors, the Victorian Clinical Genetics Services which they are also suing, and their cousin.
They said watching their second-born live without basic skills, including speech, had been devastating. They believe their second child will need constant care for the rest of their life.
“It has destroyed our lives,” the father said. “We don’t want other families to go through this.”
Jonathan Cohen, a GP who runs a Fragile X syndrome clinic, said while one in 250 females carry the gene mutation that passes on Fragile X to half of their offspring, many would not know they were carriers. This is despite a DNA blood test being available.
Dr Cohen said one in 4000 males and one in 6000 females are affected by the condition, which can be mild or severe. However, he said because the condition included a wide spectrum of symptoms, up to half of those affected are probably not diagnosed.
Physical features can include prominent ears, a high forehead, high palate, hyper-flexible joints, soft skin and flat feet. But the most common characteristics include attention deficits, hyperactivity, anxiety, extreme reaction or aversion to sensory stimuli such as loud noises, and difficulties with language. Autism-like features including hand flapping and biting are also common.
The couple’s lawyer, Naty Guerrero-Diaz of Shine Lawyers said: “It’s up to the medical professionals to test for the condition in a timely manner. Without testing, more people may be forced to suffer as this family have.”
Spokespeople for the RCH and Victorian Clinical Genetics Services said they would not comment because the matter was before a court.