‘I was born with the genetic condition’: Geneticist’s daughter diagnosed with autism
Source: News Corp Australia title Geneticist gives birth to daughter with autism with genetic condition article A geneticist is reporting her first baby with autism after giving birth to a daughter with the condition.
Dr Lili Tawfik is the founder of the Autism Speaks research and advocacy organisation, which she founded in 2012.
Dr Tawlik said she was born on March 4, 2014, with the rare condition Dravet syndrome, which is a genetic disorder caused by a malfunctioning gene.
Dr David Smith from the University of Melbourne’s Department of Molecular Biology said it was the first baby born with autism to be diagnosed with Dravets syndrome.
“There have been many babies born with this condition but I’m the first person to give birth to the baby with the disorder,” he said.
“She’s been diagnosed with it before and she was diagnosed with that disorder in 2011 and she’s a very bright child.”
So it was really quite surprising to me.
“I didn’t realise it would be that rare.”
Dr Smith said the Dravett syndrome was rare, with only one case reported in the United States.
“We know from other studies that there are about 100,000 babies born every year in the US with Dreyts syndrome, so it’s quite a big number.”
Dr Tashfik said her daughter was the lucky child.
She said the baby was born prematurely and had a rare genetic disorder known as Dravetz syndrome.
It’s rare for a baby born of an unknown genetic condition to have a healthy and normal brain, but when it does, the child may experience a severe mental disability, like social impairment or a severe personality disorder.
“The Dravetd syndrome baby is really just a normal child, it’s a normal baby,” she said.”[The condition] means she’s going to have to learn a lot of things in her life.”
It’s the first thing that she has to learn and it’s going a long way towards her learning and understanding of how the brain works.
“But it’s also going to help her to understand that she can still play and have a normal life.”
She said her own daughter had been diagnosed before and was a very normal child.