What happens when doctors don’t know the answer? It is every parent’s worst nightmare to watch their child suffer and not know how to help.
At the Murdoch Children’s Research Institute (MCRI), we believe that for every question there is an answer. Our researchers work around the clock to find the answers when parents and doctors ask, why is this child sick? And how can we make them better?
When parents can’t help their children, it is a devastating feeling. Sadly, many parents, like Amanda, have experienced this situation too many times. When Amanda’s daughter, Nelle, was six months old, she was constantly being hospitalised due to severe chest infections and concerns about her development.
“It was very difficult for her to breathe, her chest would be heaving… I felt helpless,” Amanda said. There were countless trips to the emergency ward and several admissions to the intensive care unit. “It was very stressful and tough on our whole family. Maintaining normal activities and routines for our eldest, while we juggled time off work, became increasingly difficult.”
After many months of hospital admissions and specialist appointments, medical staff became increasingly concerned about Nelle’s developmental delay and head growth. She was diagnosed with microcephaly – a small head.
This was very worrying for her parents, because they still didn’t know exactly what was wrong with Nelle.
“If your child is suffering, you want to know what you can do to ease their suffering. It was very distressing to see my baby in so much anguish,” said Amanda.
While Nelle had been diagnosed with microcephaly, this was not a complete diagnosis of her overall condition and did not explain many of her severe health problems. “It was like opening Pandora’s box,” Amanda says.
In order to find out how to best help Nelle, more answers were needed so that her condition could be properly treated. Nelle was referred to an MCRI geneticist who deciphered her gene map.
Nelle was diagnosed with a very rare genetic condition, Cohen syndrome, which affects fewer than 1,000 people worldwide. This genetic disorder causes developmental delay, low muscle tone and a small head. It affects the entire body — from brain development, to the growth of the head to the white cells that fight infection and eyesight.
It was a relief to Nelle and her family when the genetic test revealed the full story.
Genomic medicine is helping MCRI to find the answers, by allowing our researchers to study each gene and the interaction between them. Each of us have our own unique gene map of 20,000 genes. If there is an error in one of those genes, a genetic disorder may be the cause of the illness.
When the first gene map or genome was read 30 years ago, it took more than 12 years to decode. Now, thanks to medical research and technology advancements, we can achieve this in about 10 days.
At MCRI we have made great advancements to improve personalised diagnoses, but there is still much work that needs be to done.
To identify rare genetic disorders, gene maps are critical to provide personalised treatments for sick children just like Nelle. At MCRI, our goal is to ensure all children have access to personalised testing to effectively improve their health.
Nelle is now developing well and is enjoying life more. The hospital admissions have stopped, as Nelle has grown stronger and lives a healthier life. Now that she has a diagnosis, the doctors caring for Nelle know what to look out for. She is being monitored for the main complications of Cohen syndrome – poor eyesight and low white blood cell count which can cause infections.
“This is a new frontier,” says Amanda of genomics. “For me it’s clear that genetics can give us answers to questions that we didn’t even know we were asking.”
It is thanks to personalised genetic testing that Nelle got a diagnosis and her parents received the information needed to better manage her condition.
You can make a difference to the lives of children just like Nelle. Make a donation today and help our researchers answer the big questions doctors and parents have when they have a sick child.