Scott and Andrea O'Neill couldn't believe how lucky they were when they welcomed their only child, Chloe, into the world. But within months their lives were turned upside down. Chloe is one of the few children in Australia living with spinal muscular dystrophy type 2. DANIELLE BUTCHER reports.THE O'Neill family knew that their lives would be changed forever when they started a family.
What they didn't know was they were both carriers of a genetic condition that resulted in their daughter Chloe being born with spinal muscular atrophy type 2.
The couple were unaware of their daughter's illness until July last year. It was Scott's mother who first raised the alarm.
"She works in early childhood education and she said in about February that she was a bit concerned that Chloe wasn't using her legs," Scott says.
"At the time we put it down to delayed development and shrugged it off, thinking that every child was different.
"After a few weeks we took her to the GP one night and he said she was fine, just a slow developer."
After three months the couple had still not seen any sign of improvement in Chloe's movement and decided to seek a second opinion.
"The doctor told us she was OK, she just had a little bit of a flat battery, but we should take her to see a pediatrician just in case."
Within days the couple were sitting in front of the pediatrician hearing the words every parent dreads.
"It was very confronting. The doctor finished the appointment by saying, 'I'm concerned and I think you should be as well', and that was the worst thing that a parent can hear," Scott says.
"When he referred us to the Royal Children's Hospital, my heart just stopped. I was inconsolable."
It took the head of neurosurgery at the hospital only a few minutes to diagnose Chloe with SMA type 2.
The condition affects the nerves in the spinal cord and weakens the muscles connected with those nerves. Symptoms can develop as early as three months old in the most severely affected (type 1), about one to two years in the moderately affected (type 2), and more rarely in the late childhood or adult years in mildly affected individuals (types 3 and 4).
Children with type 1 SMA don't generally live longer than two years; those with type 2 can live into their teenage years.
"Before all this I had done some Google searches and researched SMA type 1, so I felt sick thinking my child was going to die within the year," Scott says.
"Then he explained the difference between the types and told us that type 2 was the one of much hope.
"I cried myself dry for two weeks. But then we picked ourselves up. You have too stay positive when you're going through something like this.
"You know you are going to move mountains for them if you can, and we decided as a family that we weren't helping her at all by moping around.
"We now have a different path in life. Our future is not set and our dreams are not over. We just have to learn to adjust to our new life."
Andrea said they were
now in discussions with a medical researcher in Western Australia. "Most of the current research is focused on type 1, but Steve believes that having access to Chloe's cells could help expand research into type 2," she said.
"So we've gone from July thinking our child would die within 18 months to having to start looking for primary school and high schools to send her to, because now she has a future.
"She has access to things that didn't exist six years ago, so we don't know where she'll be in six years from here. All we can deal with is the here and now. We know what we have to be careful of."
Scott hopes others can learn from his family's journey.
"I have a vision of speaking to another SMA family and being able to say 'I have something for you'. Something tangible, not just hope.
"Hopefully one day it won't be all doom and gloom."
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