When Abel was born at just 32 weeks and five days, his parents knew their little boy faced challenges, but nothing could have prepared them for the journey ahead. Critically unwell as a newborn, Abel underwent rapid genomic testing, which uncovered a diagnosis that may otherwise have taken years to find. That early recognition opened the door to an experiment therapy that has helped him thrive.

Melanie’s pregnancy had been complicated by polyhydramnios and, from the moment Abel entered the world, he was critically unwell. Admitted to the Neonatal Intensive Care Unit (NICU) at The Children’s Hospital at Westmead (CHW), he required urgent breathing support.

At six weeks old, Abel underwent open heart surgery for a PDA ligation, in the hope it would improve his severe pulmonary complications. But, despite every intervention, doctors still did not have all the answers.

“He was very, very unwell, but we couldn’t work out why,” Melanie, Abel's mum, said.

It was then that Dr Alan Ma, Clinical Geneticist at CHW, became involved in Abel’s care.

“I became involved soon after birth, where we arranged rapid genomic testing to help find an answer,” Dr Ma said.

That testing led to a diagnosis of Cantu syndrome - a very rare genetic condition that can affect multiple systems in the body and is often characterised by features such as excessive body or scalp hair, distinctive facial features, heart and blood vessel complications and differences in bone development. Some children may also experience neurodevelopmental delays.

For Abel’s family, having a diagnosis brought unexpected relief.

“When we were given a diagnosis, it was actually a relief. It meant we weren’t so in the dark about what was causing his symptoms,” Melanie said.

Abel’s condition is caused by a rare genetic variant. At the time, fewer than 100 people worldwide had been diagnosed. While the rarity felt overwhelming, emerging research pointed to a potential treatment pathway. Doctors believed glibenclamide - a medication traditionally used for diabetes - could help manage Cantu syndrome by targeting specific cellular channels.

With limited options available, Abel’s family made the decision to proceed with the experimental therapy. He began treatment under close supervision. After six months, Abel was finally discharged home.

Though, the impact of the treatment had been significant. Abel’s early years were marked by complex medical needs. Low muscle tone required ongoing allied health support, and he was tube-fed via nasogastric tube until 11 months of age before transitioning to a gastrostomy. Overtime, he has overcome oral aversion and learnt to eat independently.

Abel also required BIPAP breathing support, gradually reducing to nighttime use and, eventually, no longer needing it. Chronic lung disease led to frequent hospital admissions in early childhood, though this has reduced as he has grown stronger. He was later diagnosed with global developmental delay.

“The care Abel received meant everything to us and was vital to his survival. The nurses treated him like their own, and the doctors took the time to explain each step and never stopped searching for answers,” Melanie said.

Now eight, Abel loves comic books, video games, bike riding, and tennis - and is a devoted big brother to his sister, Ebony, affectionally known as his ’baby’. A keen traveller, he has also visited every state and territory in Australia on family adventures.

At school, Abel enjoys garden club, sports, and library time. With support for auditory processing and vison, he continues to build confidence in the classroom.

“Abel lives a very normal life. We are very proud of his progress and the person he is becoming,” Melanie said.

Abel’s journey highlights the impact early diagnosis can have.

“Early diagnosis and treatment can make a significant difference in survival and long-term outcomes,” Dr Ma said.

Access to rapid genomic testing is helping more families receive answers sooner – guiding care, informing treatment and, in some cases, opening the door to therapies that may not otherwise have been considered.

There is a growing awareness across the healthcare system of the value of early genetic diagnosis, with continued progress towards expanding access to these services for families across NSW and Australia, including those in rural and remote communities.

“The more we can strengthen access to expert genetics services and testing, the more opportunities we create to change the trajectory for children with rare disease in an equitable way,” Dr Ma said.

Together, we can support families, like Abel’s, navigate the unknown, and ensure every child, no matter how rare their condition, can thrive.

“I don’t think people truly understand what it’s like to live with a rare disease unless they have experienced it firsthand,” Melanie said. “But sharing stories like Abel’s helps people see what’s possible - and how much hope there is.”