Mia’s parents have always known her as cheeky, kind, loving and a devoted Melbourne Victory fan. But what has truly defined this extraordinary young girl is her remarkable resilience and strength, visible from the very first day she came to The Royal Children’s Hospital (RCH) at only 18 months old.

“Mia was already seeing a paediatrician for not meeting her milestones. At 18 months, we were referred to the RCH and underwent some genetic testing,” Chantal, Mia’s mother shared.

“It was then that she was first diagnosed with Rett syndrome,” she added.

Rett syndrome is a rare genetic disorder that affects brain development and leads to significant disability from early childhood, including the loss of previously acquired skills such as walking, crawling, hand use, and speech.

This diagnosis completely changed Mia and her family’s future overnight. With no cure and limited treatment options, they placed their trust in the expertise of the RCH, including the hospital’s Senior Neurologist, Associate Professor Andrew Kornberg, and the care provided by the hospital team.

But it wasn’t long until the family had to deal with another devastating blow.

“When Mia turned four, she started having seizures. Andrew diagnosed her with epilepsy and started monitoring her condition,” recalled Chantal.

Mia’s epilepsy was so severe that she would have non-stop seizures, resulting in constant trips to the RCH.

“Mia had frequent hospital visits for her seizures. She even had a long stay in the hospital for a total of nine months,” Chantal recalled.

Fortunately, the family found new hope in advanced treatments, when Andrew enrolled Mia in a clinical trial, giving her access to this novel medicine.

Access to this cutting-edge therapy completely transformed Mia and her family’s life. Critically, it has meant that their days are no longer filled with the agonising anxiety around when their precious daughter’s next seizure might occur.

“The clinical drug trial has made an incredible, life-changing difference,” Chantal highlighted.

“Mia used to have a number of symptoms, in addition to her seizures, but a lot of those have now disappeared,” she further emphasised.

As therapies continue to rapidly develop, Chantal remains hopeful that future breakthroughs and treatments may one day change Mia’s future.

“Our hope is that one day there is a gene therapy approved for Mia that could potentially reverse her condition. She could then have her own voice and share her thoughts and feelings with the world,” Chantal said.

The generosity of our supporters is helping transform outcomes for children with rare and complex diseases. It has the potential to change countless young lives, improve outcomes, and importantly, give families like Mia’s hope for a brighter future.