When Edmond came to hospital, there was no test that could provide a complete diagnosis for his complex condition.

It would take 10 years before genomic testing would finally diagnose Edmond with an extremely rare neuropathy and support in providing a treatment with life-changing results.

Edmond was three-years old when he came to Dr Sachin Gupta, Paediatric Neurologist at The Children’s Hospital at Westmead. He presented with several concerns, most significantly weakness in his lower limbs, making it difficult for him to walk, run and play. He also showed symptoms of rapid fatigue, inadequate growth for his age, as well as worsened motor issues when sick.

“He had quite a few unusual manifestations,” said Dr Gupta. “When you have an unusual mix of things, you try and figure out if there is a common link. It was like a jigsaw puzzle. We had a few pieces of the puzzle, but we were missing the vital piece which would connect all the pieces of this puzzle.”

Edmond was referred to various teams within the Hospital to find out what the underlying problem was. He would undergo several diagnostic investigations, including many bone marrow and muscle biopsies, with inconclusive results.

“We were sent from one department to the other,” said Edmond’s father, Jerry.

“Each department carried out their own tests to either rule out the suspected conditions or to do more investigations. All of which revealed not much but contributed more to our distress and the journey kept on going for years.”

It was not until Edmond was referred to Metabolic Geneticist, Dr Shanti Balasubramaniam, when genomic testing showed promise in finding answers.

“When we are dealing with ultra rare conditions, we need to think outside of the box,” said Dr Balasubramaniam.

“Edmond had a battery of investigations performed which had not explained a cause, hence we had to take a more broad-based genomic approach to facilitate the diagnostic work-up.”

Dr Balasubramaniam would be part of the expert team that used genomic testing to diagnose Edmond with a very rare neuropathy linked to an anomaly in his SLC5A6 gene.

The gene, known as the sodium-dependent multivitamin transporter, was crucial for transporting essential vitamins across the gut barrier. Without those vitamins being absorbed into the body, it would lead to a multi-systemic chronic condition, explaining the diverse and severe symptoms Edmond was experiencing.

This extremely rare condition affects two in one billion individuals worldwide, with other cases discovered in India and the United States.

“It was a bittersweet experience when we got the diagnosis” - Edmond’s father, Jerry

“This was not a simple task and needed a lot of patience, dedication and passion for a very long time.”

Edmond’s diagnosis was an international collaboration that led to the development of a targeted therapy. The therapy provided the vitamins that those with the condition were missing due to the genetic anomaly.

Thirteen-year-old Edmond is now receiving the treatment for his rare condition and is already seeing life-changing results.

“Edmond has been active more than we expected him to be" - Edmond’s father, Jerry

“He struggled to catch up with his mates when they went out for school excursions on foot. But now, he goes on long walks, bike rides, swimming with family and friends. He joined the local scouts, and he is now a scout’s leader and organises many outdoor activities for the group.”

Edmond’s case was published in a research paper in the European Journal of Human Genetics showcasing the impact of genomic testing on diagnosing and treating rare, complex conditions like his.

“If this genome sequencing was available ten years back, Edmond would not have waited ten years for the treatment,” said Dr Gupta.

Genomic testing shows significant promise in providing early diagnosis and potential treatment for thousands of rare conditions. When such testing is integrated into clinical care environments like hospitals, they can save not only several trips to hospital for other invasive diagnostic procedures, but also save $100,000 per patient.

“We consider ourselves lucky to receive such care" - Edmond’s father, Jerry

“We hope that further medical advancements are implemented and treatments like this are available for a larger group of patients. It definitely makes a difference to the individuals and their families.”

Thanks to the hard work of Edmond, his family and hospital team, his life has been transformed for the better.

Acknowledgements

The team behind Edmond’s diagnostic odyssey included several researchers and clinicians across The Children’s Hospital at Westmead, including Dr Tatjana Kilo, Dr Manoj Menezes, Dr Lisa Riley and Prof Sandra Cooper.

Partner institutions involved were the University of Sydney, Children’s Medical Research Institute, University of California, Kasturba Medical College and Amrita Institute of Medical Sciences and Research Centre.

The research behind his story was kindly supported by Luminesce Alliance and partly by both an NHMRC Investigator Grant and a Medical Research Future Fund (MRFF) ‘RNA for Rare Disease’ Grant.