After more than two years of searching for an explanation into the late development of one of their twin sons, Rohanne and Philip Tiefel of Orange were given the tragic news.

They were told that Lucas had Sanfilippo Syndrome Type A – a degenerative condition that causes fatal brain damage.

The condition has no known cure or treatment and the life expectancy for children is just 12-20 years.

Mrs Tiefel said she was filled with “horror and disbelief” when she received the news.

“The only blessing was that Dominic [Lucas’s twin] was not positive,” she said.

“We were devastated, it was an extremely difficult time for us all.”

Since the diagnosis last year the twins had their third birthdays in December and the family started the Hope for Lucas campaign to raise money for research into finding a cure.

“Lucas and I don’t get a cent from the donations,” she said.

“Every cent goes toward the research.

“There are trials currently under way worldwide.

“They are looking at gene therapies.

“But currently there is no magic wand, no magic pill you can give to your kid that says ‘you are cured.’

“It’s an unknown now.

“We don’t have a time frame of how long he will live.

“The standard milestones are out.

“We ride his rollercoaster.”

Mrs Tiefel said she planned to try to make Lucas’ life as normal as possible.

“My full intention for him is to have a full, healthy lifestyle that every other kid of his age has,” she said.

That included daycare, pre-school and regular schooling where possible.

She said the syndrome was so rare that only about 75-100 people had it in Australia.

That’s just one in 70,000 people.

The Sanfilippo Children’s Foundation website www.sanfilippo.org.au said it was an inherited condition caused by an enzyme deficiency.

“The lack of enzyme prevents the body from going through its natural recycling process, causing cellular malfunction,” it said.

“Over time brain cells fill up with waste that the body is unable to process.

“As the brain gets progressively damaged, children experience hyperactivity, sleeplessness, loss of speech and cognitive skills, mental retardation, cardiac issues, seizures, loss of mobility, dementia and finally death, usually before adulthood.”

Mrs Tiefel said she and her husband carried the recessive gene that could lead to the inherited disorder – something they were completely unaware of until they had children.

Now they are searching to see if any descendants had the disease or similar.

You can donate at www.hopeforlucas.com.au