Edicson Morales Torres with Michelle and their children Isabel, Tomas and Mateo in 2024, the year Mateo was diagnosed with a deadly disorder. Picture supplied

A Gymea family is turning to the community for help as they battle to give their seven-year-old son, Mateo, a fighting chance against a rare, devastating neurodegenerative disorder.

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In early 2024, Mateo was diagnosed with Childhood Cerebral X-linked Adrenoleukodystrophy (X-ALD), the most aggressive variant of a condition that affects just 1.6 in every 100,000 births in Australia and New Zealand.

The disease causes a rapid breakdown of myelin, the protective nerve sheath, alongside adrenal gland damage due to the body's inability to break down very long-chain fatty acids. Typically emerging in boys between the ages of four and seven, the condition triggers progressive neuroregression and is frequently fatal within a few years if left untreated.

Mateo's diagnosis came on suddenly. His father, Edicson Morales Torres recalls that the family had no warning of the storm ahead.

"Mateo was a completely vibrant and incredibly smart boy. We never could have suspected that he had any medical condition or that his health was compromised, especially with something so serious and devastating," he said.

"He had no obvious symptoms except for when his educators at preschool called me to say he was sick. He didn't look or feel right when I picked him up and he was becoming more unresponsive, so we went to Sutherland Hospital. They did a CT scan and found something in his brain. Two hours later he was sent to Sydney Children's Hospital. After an MRI, doctors said it didn't look good. Three months after that more symptoms started appearing."

To halt the progression of the condition, Mateo underwent a bone marrow transplant six months after his diagnosis. While the procedure aimed to stop the disease, both the underlying condition and the intensity of the treatment have left him facing profound physical challenges. Mateo has since lost his vision, speech, hearing, and motor control, and now receives all of his nutrition and medications through a feeding tube.

"Seeing our active, bright boy in this state has been a profoundly difficult and heartbreaking experience," Mr Morales Torres said. "Despite all the challenges and sadness our family refuses to stop fighting to improve his quality of life."

The heartbreak is compounded by the genetic nature of X-ALD, an X-linked recessive trait caused by mutations in the ABCD1 gene. Because it is hereditary, the diagnosis has cast a long shadow over the rest of the family.

"When Mateo was born he wasn't part of that routine test that can pick up the condition," his father said. "My younger son Tomas also has the gene and can develop the condition so he needs to have a brain MRI every six months. My daughter can be a carrier but we don't know yet. She had a DNA test a few weeks ago and we are still waiting for those results. We do know it came from the children's maternal grandfather. But no one really knew or asked questions about it."

Had Mateo been born later, the condition might have been caught sooner. Following landmark policy changes, Australian Health Ministers agreed in late 2024 to add X-ALD to the national newborn bloodspot screening program for male babies, a program that was officially expanded to include all female newborns by December 2025.

Now, the family is looking overseas for hope. They have launched a community fundraising campaign to take Mateo to Florence, Italy, for supportive therapy sessions using a technology called REAC (Radio Electric Asymmetric Conveyer). While unavailable in Australia, the therapy has been used internationally to improve the physical comfort, muscle relaxation, and daily well-being of children with severe neurological conditions.

Through their research, Mateo's parents have found encouraging clinical benefits reported by other families, including reductions in seizures and painful muscle spasticity, alongside improvements in swallowing, motor performance, and cognitive responsiveness.

"If Mateo responds well and shows improvements, this initial trip will be the foundation for an ongoing, long-term journey to give him the best possible quality of life. Any improvement that Mateo can get from it is a big gain for him," Mr Morales Torres said. "We want to give him the best possible chance to get better and, hopefully, one day regain his functions. We are turning to our community to help us give Mateo this chance."

It is hoped that life-changing therapy in Italy will help Mateo, pictured with his father Edicson Morales Torres. Picture supplied