Driving Rare Disease Awareness and Hope: Dr Boris Waldman and Angelman Syndrome

For Dr Boris Waldman, the path to advocacy began with a life-changing moment at home. When his son Leo was diagnosed with Angelman Syndrome, it reshaped how he understood medicine and the role doctors play in early diagnosis and supporting families navigating complex health conditions. What started as a deeply personal journey has grown into a broader commitment to improving awareness, research, clinical trials and support for people living with rare conditions. Today, alongside his work as an anaesthetist, Boris advocates for earlier diagnosis, better access to genetic testing and stronger support systems - with Leo always at the heart of his passion to drive for change.

Boris’ path into medicine was shaped by curiosity and a desire to work with people. After completing a science degree with exposure to biomedical statistics, he was drawn to a profession that combines his knowledge and human connection. Anaesthesia, in particular, appealed for its balance between technical expertise and collaborative care. Now as a specialist completing further fellowship training, Boris describes his work as rewarding but demanding, particularly as he balances professional responsibilities with family life. He explains that, like many doctors, the long training pathways in medicine often mean that building a career happens at the same time as starting a family…a challenge that became especially personal when his son was born.

Finding community and purpose

Leo’s birth followed a low-risk pregnancy, and at first everything seemed as planned. But early on, Boris and his wife noticed feeding difficulties and signs that something wasn’t quite right. Like many families facing developmental concerns, they were given a range of possible reasons - from reflux to dietary issues - while the uncertainty continued. At 16 months, genetic testing finally provided an answer: Leo was diagnosed with Angelman Syndrome, bringing clarity after months of unanswered questions.

Angelman Syndrome is a rare genetic disorder that affects the nervous system, leading to developmental delays, speech impairments, movement and balance difficulties, and distinctive behavioral traits such as frequent smiling. It is caused by abnormalities in a specific gene on chromosome 15 and typically requires lifelong support and therapies to help manage symptoms and improve quality of life.

Boris describes the Angelman Syndrome community as incredibly supportive, and through it he has seen the broader challenges families face, including delayed diagnoses and slow progress in research and clinical trials, which motivated his advocacy efforts. While treatments are still in development, late-stage clinical trials for Angelman syndrome offer hope, and Boris emphasises that identifying more people and understanding these conditions better accelerates progress.

“The value doctors bring isn’t just knowing what happens when things go to plan. It’s recognising when something unusual might be happening and knowing how to investigate it.”

Leo’s diagnosis significantly influenced Boris’ approach to medicine. According to the Department of Health, Disability and Ageing, rare diseases affect around 8% of the Australian population (2 million people), with genetic conditions driving many hospital admissions in children. This perspective has sharpened his support to recognising unusual cases, improving access to genetic testing, and expanding newborn screening. Boris believes that earlier diagnosis can shorten the stressful “diagnostic odyssey” and empower families with information, support, and the ability to plan, even when treatments aren’t yet available.

While Boris’ professional work is important, it is his role as Leo’s father that drives his advocacy alongside organisations like the Foundation For Angelman Syndrome Therapeutics (FAST) Australia, helping accelerate research to improve the lives of children with Angelman syndrome.

“The more we understand about these conditions and the more people we identify, the faster research can progress”.

Supporting the profession through MDA National

As an engaged Member, Boris has also contributed to his profession through MDA National, initially joining as a student and later serving on MDA’s NSW state advisory committee. He values the professional support provided to doctors and their practice, and the promotion of self-regulation and improvement. His own experiences seeking medico-legal advice highlighted the importance of guidance, and through advisory work he continues to support conversations around doctor wellbeing, education, and professional development. “Even a straightforward complaint can feel overwhelming. Having access to experienced medico-legal advisers who understand the system and can guide you through it makes an enormous difference”, he says.