Liam’s Joubert Journey

 Mid-2013 we were expecting our third and final bundle of joy. Up until 20 weeks into my pregnancy everything seemed fine bubs was healthy and growing perfectly. It was at our 20 week scan that we found out we were going to have a little boy due Christmas Day to add to our little family. That joy soon turned to fear as we were then told our son had brain abnormalities. We were referred to a specialist in Wollongong, NSW for further scans to see if he did in fact have brain abnormalities.

Our scans confirmed what was seen in our 20 week scan and we were told he had Dandy Walker Malformation and were referred to Prince of Wales Woman’s Hospital for the remainder of our pregnancy as I was now a high risk pregnancy. The results of an amniocentesis test told us it was a genetic condition, and at 27 weeks we had a foetal MRI done which confirmed our son has Joubert Syndrome. Joubert Syndrome is a rare brain malformation that affect’s a person’s balance and co-ordination, and affect other parts of the body for example vision and rapid breathing.

I hated going back to the hospital because each week we were delivered another blow. At one point it looked as though our son would have fixed/flexed hands but ended up being just the way his hands were positioned at the time. The doctors couldn’t really tell us what to expect or whether or not he would survive as every person with Joubert Syndrome is affected differently.

At 10am on Tuesday 17th of December 2013 I was induced to have our baby boy and at 11.45am our beautiful blue eyed baby boy, Liam. With a head of curly blonde hair, weighing 9lb 7oz, Liam entered the world with 13 fingers and 13 toes, a slight cleft lip and tongue tie. He was absolutely perfect and in that moment I knew he was going to be ok and all the stress and fear faded away and all the relief and joy kicked in.

Liam was in NICU for 2 weeks due to needing oxygen for 48 hours and due to feeding issues, we were able to bring him home on his sisters 1st birthday 3rd of January 2014. Over the course of a year, Liam had his lip and tongue operated on, his extra digits removed and was also hospitalised for a week with a staph infection in his left foot. Throughout October 2016 Liam spent a week in hospital with Sepsis secondary to left lower lobe pneumonia and Human Metapneumovirus.

Today Liam is a happy healthy boy who just celebrated his third birthday. He is unable to crawl, sit, talk or walk, is visioned impaired has both intellectual and physical delays. He is currently on a waiting list to have a G Tube put in as he has 500ml of Nutrini a night through NG Tube at the moment to help him gain and maintain his weight. Despite all he has been through and the challenges he faces each and every single day, he is still one of the happiest, cheekiest three year old boys you could ever meet.