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A rare disease diagnosis is often plagued with more questions than answers. For families like Angelina’s, it can feel like being lost in a dark forest, desperately searching for a clear path forward. This is the path Dr Emma Palmer, Clinical Geneticist at Sydney Children’s Hospital, Randwick, is hoping to provide. 

At three years old Angelina was diagnosed with a rare genetic disorder called calcium/calmodulin dependent Serine protein Kinase (CASK) deficiency. The condition affects brain development and can be life-limiting. 

For Giovi, Angelina’s mum, one of the most significant challenges is the uncertainty of what the future holds.

“I remember sitting in a small room and being handed a two-page document about CASK, printed from the internet. At the time, I had never heard of it and only about fifty children worldwide were known to have it,� Giovi said.

“With so few answers, there is no clear roadmap. Families like ours often feel like we are navigating uncharted territory, tirelessly advocating for research and support while managing the daily challenges of an unpredictable condition.â€�                                           

Now nine, Angelina has progressive microcephaly, causing her head size to be smaller-than-expected, movement disorders, seizures and intellectual and developmental delays. 

But despite the unknowns, she continues to defy expectations. 

“One of the most incredible moments was when Angelina took her first steps. We were told she might never walk, so witnessing her defy those expectations was truly extraordinary,â€� Giovi said. 

Angelina does six hours of daily intensive therapy, including physiotherapy, occupational therapy, speech therapy, Feldenkrais (movement therapy), swimming, and music therapy, these comprehensive therapies all having a profound impact on her progress.

“These therapies help children like Angelina live better lives, giving them tools to communicate with loved ones and the world. The specific symptoms of CASK-related conditions in each child requires a team of specialists delivering personalised care,â€� Dr Palmer said. 

Currently, there is no cure for over 95% of rare diseases, including CASK-deficiency, and diagnosing and treating these diseases is far from straightforward. 

Each year, Sydney Children’s Hospitals ÐÇ¿ÕÌåÓý cares for around 2,000 new patients living with a rare disease, like Angelina. For these children and families, personalised medicine is emerging as a promising avenue to individually tailor treatments and therapies and offer those like Angelina an improved quality of life.

“We are learning more about rare diseases every day through precision medicine, which is opening a world of possibilities for us to transform the way we provide care and treatment for these children. It is the way of the future.�

“The hope is that we will be able to provide a more defined pathway to treatment for rare diseases, one that sheds some light into the forest, in the not-to-distant future,� Dr Palmer said.

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