Saved by a cutting-edge Aussie treatment

'Louis isn’t meeting his milestones,’ I said to my husband, Martin, then 40. At four months of age, our boy couldn’t control his head and wasn’t reaching out for toys. At that age, our older kids, Noah, then six, and Nina, then four, had been.

Soon after, Louis began writhing in pain and crying uncontrollably. He’d pass out, exhausted, only to wake up crying again. It was awful to watch.

Taking him to the doctor, he had a CT scan of his brain and an MRI. To our shock, they found an abnormality in the basal ganglia part of his brain – a part that affects movement.  A type of rare and severe neurological disorder, it was characterised by progressive loss of abilities.

‘I’m sorry,’ said the doctor. ‘There’s no cure. All we can do is give him medication to relieve his pain and get the symptoms under control.’ It was a life-limiting condition, meaning Louis might only live another three years.

Martin and I sat there and sobbed at the horror of it all. I can’t believe we’re going to lose our beautiful son, I thought, devastated.

Next, Louis had blood tests and a lumbar puncture so doctors could get a more accurate diagnosis. But it was difficult to find what caused his disorder - it could be genetic.

Meanwhile his condition deteriorated. By seven months, his muscle tone was so poor he couldn’t sit up on his own or hold things.

When he turned one, not knowing how many more birthdays he would have, we threw him a huge party with everyone we knew. Two months later, we got
a call from Melbourne Genomics Health Alliance.

They explained they could pinpoint Louis’ specific disease by ‘genomic sequencing’ – basically, analysing his DNA. Expecting nothing more than an answer to what had caused his condition, we agreed for him to be tested.

Afterwards, we went to hear the results. ‘We’ve isolated the gene that caused Louis’ illness,’ the doctor said. ‘He has an extremely rare condition called biotin-thiamine-responsive basal ganglia disease.

‘It means we don’t think it’s terminal,’ she told us.

His brain damage couldn’t be reversed, but with doses of vitamins called biotin and thiamine, further damage could be halted.  Martin and I were absolutely ecstatic.

Everything changed after Louis went on the treatment. He also began a rehabilitation program of physical and occupational speech therapy.

Now five, Louis is starting school. He hasn’t developed speech, but we’re finding ways to use facial cues and expressions to communicate with him. And he can sit up and walk with support.

We’re so thankful to the Alliance for diagnosing Louis’ condition. Thanks to them, Louis has a future and we will be forever grateful. 

What is genomic sequencing?

• It’s technology that lets us ‘read’ our DNA code, to look for changes that might affect our health.

• Genetic tests look at a small number of genes, but sequencing looks at many genes at the same time.

• DNA is extracted from blood or tissue and then examined.

• To find the answer, doctors and scientists work closely together.

• Melbourne Genomics is providing genomic sequencing to more than 3000 patients.