April Warrior 2024
Olivia
Olivia was born a perfectly healthy baby girl, developing normally until one day, at around 10 months old, she suddenly couldn’t move her right side of her body. Her parents rushed her to hospital and were told it was a form of seizure, but it may never happen again, so it was probably nothing to worry about.
About 8 weeks later though, it happened again and this time the affects lasted longer. An MRI revealed that Olivia’s brain was different on the left side - it wasn’t as big. Her parents were told it may settle itself but as the years went on with ongoing EEGs and medication trials, it became obvious there was something more complex going on.
In September 2022 during a severe illness, Olivia was having uncontrollable seizures. She had been in hospital for a week when she received a diagnosis of Sturge-Weber syndrome ‘type 3’.
Sturge Weber syndrome (SWS) typically involves a facial birthmark known as a Port wine stain, abnormalities in blood vessels in the brain, and sometimes eye complications such as glaucoma. In SWS type 3, the characteristic facial birthmark is absent, but there are still neurological symptoms and brain abnormalities similar to those seen in types 1 and 2.
This subtype is much rarer and can present unique challenges in diagnosis and management.
SWS Type 3 warriors may still experience seizures, cognitive impairment, and other neurological issues associated with abnormal blood vessel development in the brain.
Due to its rarity and atypical presentation, diagnosis and treatment of SWS type 3 can be more challenging compared to other forms of the syndrome.
Management typically involves a multidisciplinary approach with a focus on controlling seizures and addressing associated neurological and developmental concerns.
Since the diagnosis, it has been a bumpy road navigating medications to help manage the seizures.
Now at the age of 5, Olivia is in prep at school and wears an apple watch to alert her teachers to seizure activity. Although she is pushing through and enjoying school, there is a lot of uncertainty about what Olivia’s future will hold due to the rarity of this condition.
SWS on the whole affects approximately 1 in 20,000 50,000 live births, however as a subset, SWS type 3 is much rarer than this.
SWS is caused by a somatic mutation, most commonly in the GNAQ gene. This mutation occurs randomly for no known reason and affects males and females in equal numbers.
SWS can affect individuals of any race or ethnicity.