Jack’s Story
Jack was hospitalised with a respiratory infection and then with pneumonia at seven months. Subsequent Genetic testing provided Jack’s parents with some insight when he was diagnosed with Wiscott-Aldridge Syndrome. Here is Jack’s story…
“Once they received a formal diagnosis, it became apparent that Jack needed to have a bone marrow transplant, if he didn't his life expectancy was low - from five to 12-years-old. All family members were genetically tested to see if they could help Jack, and it was found that nine-year-old Bethany was Jack's best match. She bravely put her hand up to be her baby brother's donor - and her mum's hero.”
At three months old, Jack was hospitalised in Orange with a respiratory infection and was back there aged just seven months with pneumonia. Genetic testing at nine months of age provided Jack and his family with an insight into his recurring illness, when he was diagnosed, and able to be treated for Wiscott-Aldridge Syndrome.

This is an immune deficiency that left Jack susceptible to infections and meant his platelets didn’t function properly. The diagnosis was challenging for the family; however they were happy that they had a diagnosis, which meant Jack could get life-saving treatment.

Although Emma (Jack’s Mum) was able to get answers relatively early in Jacks life, it wasn’t without uncertainty and difficult times. Since he was a newborn, he was plagued with constant bruising, eczema and respiratory infections that made Emma question what was wrong with her baby – her fourth child.

Fortunately, the blood tests during his second stay in hospital revealed that his Jack’s platelets were abnormally low, providing an insight into what may be wrong. After a meeting with the haematologist, genetic testing was ordered, and his disease was revealed (Wiscott-Aldridge Syndrome).

Once they received a formal diagnosis, it became apparent that Jack needed to have a bone marrow transplant, if he didn’t his life expectancy was low – from five to 12-years-old. All family members were genetically tested to see if they could help Jack, and it was found that nine-year-old Bethany was Jack’s best match. She bravely put her hand up to be her baby brother’s donor – and her mum’s hero.

Bethany had to undergo an operation and the life-saving transplant took place in October 2022. Emma and Jack had to stay in Sydney – away from their family home in Forbes NSW (almost a 5-hour drive away), whilst her husband (Paul) took care of the three older children and the entire household.

Emma and her family are incredibly grateful for how well Jack is doing; however, he is still on one medication and will require life-long monitoring, but hopefully just annually. His sisters bone marrow has basically given her brother a cure, and his 100-day tests show he now has 97 per cent donor marrow.

Published: May 2023.