Ace was born on the 21st February 2024 at the North West Regional Hospital. My pregnancy was fine through out, how ever they did find extra fluid at the base of his brain so we did a  down Syndrome test and that came back normal also none of these other findings were picked up during my pregnancy either. After Ace was born he stopped breathing, they resuscitated Ace and intubated him. Ace was then flown to Royal Hobart Hospital where he was put on a cooling mat for 72 hours to minimize the damage to his brain. He also had probes into his brain to pick up on any seizure activity which there wasn't any. We  pushed for an MRI which picked up on a long list of issues. He also had an ECO Cardiogram that picked up a small heart murmur that turned out to be a giant 9mm hole in the bottom two chambers of his tiny little heart. This required open heart surgery for Ace at The Royal Children's Hospital Melbourne.( this was not picked up any of my ultrasounds throughout my pregnancy). With all these findings the Genetics team in Hobart was brought in and found out that Ace is the 6th reported case WORLD WIDE for the gene deletion Hemizygous deletion in chromosome region Xq24 ( don't google it cause it will tell you lies). Ace spent the first 4 months of his life in The Royal Hobart , The Royal Children's Melbourne and the North West Regional Hospital. Ace  will require ongoing medical treatment. With his age being so young we are unsure of what his disabilities which we are aware he will have some. Ace his now a happy thriving, growing little man and is amazing our medical team everyday.

Vann was born in April 2023. At three days old we were being discharged from hospital when a midwife who was giving Vann his first bath noticed he wasn’t moving in the way she would expect. She asked for a review from the Dr’s. We were told that Vann is ‘floppy’ for a typical baby and has low muscle tone. 

He was flown to Royal Hobart Hospital for investigations. It was here the discovered he had Spinal Muscular Atrophy Type One.  

SMA Type 1 is historically the biggest genetic killer for infants under 2. Typically with this condition muscles waste away and babies lose their ability to swallow and eventually breathe.  

We were flown to the Royal Children’s Hospital in Melbourne. Here we spent the next 6 months. In Melbourne we meet our neurologist who told us about recent medical advancements and treatment options for SMA. These treatments have only been used in Australia since 2019 so there isn’t a lot of long term data on their effectiveness. 

By the time we arrived in Melbourne Vann was only moving his hands. He was unable to lift his arms or feet and slept a lot due to being so tired. His breathing was also abnormal as he didn’t have the strength in his lung muscles so he did rapid belly breathing. 

In July 2023 Vann received Zolgensma. Zolgensma is the most expensive drug in the world with a price tag of 3 million dollars. This treatment gave Vann another chance at life. This treatment gave him an artificial copy of his missing gene. As a result it halts the progression of SMA.  

Zolgensma changed his life. He began developing strength rapidly. He was reaching and rolling. Lifting his arms and head in tummy time.

At the moment Vann has a very busy schedule. He participates in daily hydrotherapy, physio, speech and occupational therapy activities. He works hard to gain strength and muscle. However this therapy alongside his treatment has helped him achieve so much!  

We were told in the beginning he ‘might’ sit and will never stand or walk. We were told eating orally would be a risk for his lung health and he would need to use ventilation over night to help with breathing. But here we are today with a little person who eats orally 100%, sleeps with no ventilation and has to ability to sit and stand independently.

Vann’s future is unknown. Zolgensma is a very new drug and there isn’t a lot of long term data. What we do know is the kids who first received the medication in clinical trials are now 12 years old and haven’t seen any regression. Which in the battle with the beast of SMA is just magical. We also know that accessing Physio, OT and Speech therapy will help him develop strength, kick goals and reach milestones. It’s hard work but his resilience, persistence will get him far.