Bathurst's Angela Wilkinson shares her two-year-old son Liam's battles with Joubert Syndrome

Bathurst mother Angela Wilkinson’s two-year-old son Liam suffers from Joubert Syndrome, a rare brain malformation where there is the absence or underdevelopment of the cerebellar vermis.

The condition affects his co-ordination, making everyday tasks like walking, talking and eating very challenging.

Liam is also visually impaired from the development of Atresia of Foramina of Magendie and Luschka, slightly deaf in his right ear and suffers from Transient Tachypnoea, meaning he constantly starts to breathe very rapidly for periods of time. 

The diagnosis of Joubert Syndrome came during Ms Wilkinson’s pregnancy, which carried on as normal despite the discovery.

“At first, I was 23 weeks when they told me he had Dandy-Walker Syndrome, and then at 27 weeks they did a MRI and found out he had Joubert,” Ms Wilkinson said.

In May this year, doctors established that he developed Joubert Syndrome due to Ms Wilkinson and her partner both having the same genetic mutation. 

Ms Wilkinson explained that it is unknown how severe Liam’s Joubert Syndrome will become, whether he will ever be able to live independently or even make it to adulthood.

“He is going to need a lot of work because with every Joubert case [the outcome] is different,” she said.

As Liam requires full-time care, Ms Wilkinson remains at home with him and her other two children while her partner works to pay for all the household expenses and their son’s medical bills.

It costs the family thousands of dollars each year to ensure Liam can see his doctors, including a dietician, neurologist and speech therapist, and have all the things that make his life a little easier.

The pressure is immense and it is only going to increase. 

“As he gets older it is going to cost more as he’ll need more appointments,” Ms Wilkinson said.