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A parent's perspective - Finding a diagnosis for our son's rare brain condition

Sarah Hancock shares her experience seeking a diagnosis for her son's rare condition.

My husband Justin and I, like all new parents, were both anxious and excited about the impending birth of our first child. Ashton was born eight weeks early, after I went into premature labour at 29 weeks pregnant. At five days old a routine brain scan revealed he had rare brain abnormality. Everything changed for us from that day.

The condition which affects around one in 4000 births, involves the complete or partial absence of the bridge that connects the two halves of the brain together.

Not only had our first baby been born prematurely but we were now faced with great uncertainty for Ashton’s future. We were given a ‘wait and see’ prognosis. No one could tell us how Ashton would develop, whether he would be able to walk or talk or whether he would live a full life.

We spent a lot of time in and out of in the first year of Ashton’s life. He developed severe reflux and required tube feeding. At 11 months old Ashton began having life-threatening seizures. Every time he became unwell with even just a virus like a cold, he would have a seizure and stop breathing- which meant he had to be hospitalised constantly. At 13 months old he spent four days in intensive care after contracting whooping cough despite being fully immunised. It was a very scary time, we felt so helpless, it was one of the lowest points we have had with him.

We were also told by our neurologist not to expect Ashton to walk or talk and that there was an increased chance that we may lose Ashton due to his epilepsy.

After Ashton’s ICU admission, his epilepsy became more stable and we were able to wean him from some of his medications. He became more alert and was more interactive with us, and with regular early intervention Ashton to sit and roll. I devoted a lot of time and energy into helping Ashton develop.

Around the time he was two we decided that we would try and have a sibling for Ashton. This was a scary prospect for us because Ashton did not have a diagnosis and we had no idea if his condition was hereditary. We were referred to Murdoch Children's Research Institute’s Neurogenetics team. They helped us to further investigate Ashton’s medical issues to find out what level of risk we faced in having another baby. Only four days shy of Ashton’s third birthday, his healthy little sister Lyla arrived.

Our Genetic Counsellor, Kate Pope has been wonderful. She helped us to understand our level of risk, which was estimated to be between 10 and 30 per cent and explained to us our options and provided us with lots of reassurance.

We didn’t find out until Ashton was five that he had an extremely rare and newly discovered genetic mutation of one of his genes. It was such a relief to finally have a diagnosis!

Ashton’s geneticist arranged genetic testing using Next Generation Sequencing through a Murdoch Children's collaboration with an overseas research group in Japan.  A rare gene change in a recently discovered gene was identified as the cause for Ashton’s symptoms.

Ashton is six years old now and doing well. He is in Grade One at school and he is the happiest child especially when he is swimming or riding horses. He is learning to communicate with picture exchange communication and his understanding of language grows every day. He walks very well with the use of his walker, no longer has seizures and has been weaned off his medication. He never lets anything get in his way, he always keeps trying. He has a zest for life unlike anyone I have ever met!

Sarah hopes ongoing investment into research will one day mean scientists will better be able to help other families facing an unknown future for their kids. Together we can change lives and give hope to children, just like Ashton.

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