Run your own race and find your cheerleaders along the way. That is the advice Melissa, mother of 18-year-old Lili, wants to share with the two million Australians impacted by rare diseases.

Lili was born with agenesis of the corpus callosum (ACC), a rare brain condition where the fibres that connect the left and right sides of the brain are missing. She was also born with microcephaly, meaning her head is smaller than average, global developmental delay, severe epilepsy and a respiratory condition that leaves her oxygen levels below 45 per cent every few minutes.

Back then, there was little information on the internet and no support groups for ACC in Australia, and Melissa was told that Lili would spend her life in a wheelchair with a feeding tube. Melissa said what she didn’t realise at that early stage was what a great life you can still live, even if that were the case.

Making it her mission early on to educate herself, Melissa travelled overseas to meet with experts in the field and armed herself with resources to help empower Lili and give her the best life possible.

“A diagnosis does not define the value of someone’s life, and I quickly realised that it does not predict your life as an exact route to a particular destination,” Melissa said.

As Lili began a journey of testing to search for her underlying genetic condition at the age of two in partnership with Dr David Mowat, Head of the Centre for Clinical Genetics at Sydney Children’s Hospital, Randwick (SCH), Melissa continued to focus on advocating for Lili to live an inclusive life.

“I always thought that maybe, having that last bit of the puzzle – the genetic diagnosis – would have made my experiences of fighting for her to have inclusivity in life a little bit easier,” Melissa said.

“But you can sit there and grieve about all the unknowns, or you can create a vision for your child. They can still live a great life. I’m always going to aim high, because you can’t regret aiming high.”

As Lili approached school age, despite being told by many that she belonged in a special school, Melissa advocated for her to attend her local primary school alongside her siblings, where she spent six happy years, while Melissa worked behind the scenes to ensure she had a positive experience.

“It scared many that Lili didn’t fit the box, but what I can say is how wonderful it is she didn’t, because she taught so many people to look outside the box and created many gold moments.”

She went on to enrol in a performing arts high school, meeting her best friend, and since then has had an array of experiences that Melissa said no one thought possible with her complex medical needs.

“For all our kids, we find their passions and help them come to fruition. Lili’s a bit of a speed demon, so I got thinking about the things she could still do with her A4-page long diagnostic list.”

Lili’s had the ride of her life down the ski slopes of Thredbo, travelled through Europe and been swimming with dolphins. She also inspired the first accessible beach in the Illawarra, and has spent many happy days with friends pushing her around on the sand in her wheelchair.

Now, Lili does yoga with alpacas each Friday, occupational therapy at a wellbeing farm with donkeys and pigs, and participates in equine (horse) therapy. Melissa said maybe one day she can have a role at a zoo, being the animal lover she is. 

Lili was enrolled in a research genomic program in 2014. Most recently, this was as part of the Gene2Care program, a family-centred genomic medicine program for patients with rare and undiagnosed genetic diseases being piloted at our Network, combining the efforts of Clinical Geneticists and Genetic Counsellors across our Network with world-leading experts in genomics.

While Lili had reached the ceiling of available genetic testing, the program opened up opportunities to re-analyse her results as new tests and technologies became available.

Fast forward to January this year, close collaboration between expert teams at our Network, the Centre for Population Genomics at the Garvan Institute of Medical Research and Murdoch Children’s Research Institute, and UNSW Medicine and Health made the discovery of Lili’s genetic condition possible.

Research testing found a specific genetic variant that’s been identified in just a handful of people worldwide, revealing an ultra-rare genetic condition known as Ritscher-Schinzel Syndrome Type 4.

Lili is only the ninth person in the world to receive this diagnosis.

“I describe it as the genetic recipe to make an epic human,” Melissa said.

“I wouldn’t change Lili for the world, but the genetic result is important as it empowers you with information. It’s provided us with the knowledge of what’s been found in the eight other people who have received same diagnosis around the world, helping to create more of a future medical management plan for her and to put preventative measures in place.”

Dr Emma Palmer, Clinical Geneticist at Sydney Children’s Hospital, Randwick (SCH) and part of the team who made Lili’s diagnosis, said programs like Gene2Care can be life-changing for families like Lili’s, providing the opportunity for them to continue looking for a genetic diagnosis within an ethics and governance approved framework.

“Gene2Care offers a way of putting children in the best possible position to get a diagnosis by enabling research and allowing access to existing or future genomic technologies, locally, across Australia and even leveraging international efforts."

“Through a process we call international matchmaking, we can use the clinical features and genetic results of a patient to gather and build information on cohorts of patients with the same genetic conditions.”

“We don’t give up, we keep trying as the testing and technology improves, and for families like Lili’s, programs like this which connect families in Australia with a global brains trust on genetics can offer life-changing results”, said Lisa Ewans, Clinical Geneticist and another key member of the Gene2Care team who has been working on finding Lili’s diagnosis since the original research in 2014.

February 28 marks Rare Disease Day. There are 7,000 individual rare diseases, but each condition may only affect a small number of individuals, often making them hard to diagnose.

To help health professionals provide the best possible care to people living with a rare disease and families like Lili’s, the Rare Disease Awareness, Education, Support and Training (RArEST) Project is launching the Rare Disease 101 - Australia module. This is a free, comprehensive online course, which is self-paced and includes the stories of many people living with a rare disease. 

The RArEST Project is a collaboration between Rare Voices Australia, the national peak body for people living with a rare disease, the University of New South Wales, the University of Western Australia and Macquarie University.