Hope for Mateo – Supporting ALD Research

On 29 February 2024, our beautiful angel Mateo, aged 4, was at preschool when we received a phone call that we needed to get there immediately. He had become unresponsive and was taken to hospital by his Dad where he had a seizure. We initially thought he might have fallen and hit his head at preschool. That was ruled out following a CT scan, and he was transferred to Sydney Kids in an ambulance for an emergency MRI.

Half way through the MRI, just past midnight, the neurologist walked into the waiting room. She said the MRI showed advanced white matter lesions on Mateo’s brain and gave us the words - we think he has Cerebral Adrenoleukodystrophy (ALD), a rare genetic condition.

That week, in a room full of medical staff, we were sat down and advised that, in Mateo’s case, there was nothing they could do, that he had 2-5 years left to live and he was unlikely to see his 10th birthday. Standard treatment — a bone marrow transplant (BMT) — is most effective and only offered in the early stages, before major brain involvement. Once brain lesions have become too far advanced, BMT tends to accelerate the disease and boys can be left severely disabled or die.

There was no path that led to an outcome that we wanted. Despite the risks, we pushed for the BMT. Thankfully, we had a wonderful medical team that supported our decision.

The wait between diagnosis and transplant was extremely difficult, as each month passed, symptoms were developing. By July 2024 Mateo’s vision became impacted and he began running into walls, was unable to walk through a doorway without banging his body into the side. He went from a normal, active, robust little boy, to not being able to run for fear of hurting himself, choosing to walk, and then reverting to crawling to feel more stable.

After months of waiting, we finally got a date set for transplant and luckily we had a good 10/10 donor match which was most important. Mateo began pre-transplant chemotherapy in August 2024 and received his new stem cells on 31 August 2024.

He did so well throughout the BMT and went through it with such maturity, bravery and grace, we couldn’t have been prouder. He was discharged after six weeks, way ahead of the expected 3-6 month inpatient recovery that we were told to expect. The doctors were pleased and impressed.

Post-transplant was a different story, it was so great to get him home and we would play arts and crafts and hide and seek with coins all day long while he recovered which he absolutely loved. Little did I know that these moments would be the last time I would hear my baby angels voice. Mateo began experiencing significant neurological decline from October to November and by December 2024, he had lost his ability to walk, talk, eat, and move voluntarily.

Since March this year, he has remained stable. We believe the BMT has now arrested further progression of the brain lesions — and we are so grateful we get to hold our little angel each day and hear him laugh and giggle. His gorgeous smile still lights up any room.

This disease has been cruel and unfair, no child deserves to go through what Mateo has suffered.

Why We Need Your Help

There is currently no ALD research happening in Australia. Most treatment development occurs overseas, and options are extremely limited and intense on the body. With greater awareness, we hope more research can be funded and more treatment options can become available.

Your donation will be held and 100% will be put towards future research endeavours which we expect might take place in the coming years with the introduction of newborn screening (a heel prick at birth). If that doesn’t occur, your donation will go towards the Australian Leukodystrophy Research Program or Leukodystrophy Australia, the only Australian advocacy organisation dedicated to all leukodystrophies.

Advocacy from dedicated parents is what pushed the Australian government to inform its decision on the likely introduction of newborn screening for ALD in 2026/2027. Had this been available when Mateo was born, he wouldn’t be facing a lifetime of severe disability.

That’s why we are raising funds — to:

Mateo and I are participating in the Sutherland to Surf to raise money for this cause. Every donation, no matter how small, will help us fund future research in Australia and give hope to boys like our beautiful son.

Thank you ❤️

Michelle and Edicson

(Mum and Dad)