At 20 weeks pregnant, I had just been given the amazing news I was having a little boy. ‘Let’s call him Liam,’ my partner Scott, 29, said to me. Along with our daughters, Chelsea, then three, and Ellise, eight months, a little boy would complete our family.
But three weeks later we received the devastating news that our boy had a gap in his brain. We were referred for an MRI scan. ‘I’m sorry but your baby has Joubert syndrome,’ the doctor said. She explained it’s a rare malformation, characterised by the absence or underdevelopment of the cerebellar vermis, which controls balance and coordination.
This meant our son was likely
to have learning difficulties. In the worst-case scenario, he might not be able to breathe properly.
The next few months were full of anxiety. I was terrified our precious boy would have no quality of life.
On December 17, 2013, Liam came into the world – and all my fears melted away. He had a head of blond curly hair and beautiful blue eyes. He also had 13 fingers and 13 toes, a slight cleft lip, tongue tie and two nodules on his tongue. But to me, he was perfect.
Over the next few days, Liam had lots of tests. To our relief, he could breathe unaided. He’s since had two operations to remove his extra digits and repair his lip.
Liam, now two, has severe intellectual and physical delays and can’t yet sit, crawl or walk. But he can say ‘Mum’, ‘Dad’ and ‘Bub’ which is such a joy to hear!
There’s no way of knowing what the future holds for Liam, but he’s an absolute blessing and we wouldn’t change him for the world.
To support Liam’s family visit their GoFundMe campaign.
Originally published in that's life! Issue 19, 2016.
- Joubert syndrome is the under-development of the part of the brain that controls balance and coordination.
- Characteristics include rapid breathing, impaired intellectual development and uncontrolled muscle movements. Physical deformities may also be present.
- In most cases, it’s inherited when both parents carry the mutated gene. For more info go to jsrdf.org