Trip to Orange Hospital helped Jack Baxter get life-saving treatment

Genetic testing at nine months old saw Jack diagnosed with - and most importantly treated for - Wiscott-Aldridge Syndrome.

On Rare Disease Day his family is shining a light on his story and those like him.

Constant bruising, eczema and respiratory infections were signs to Jack's mum Emma that something was very wrong with her tiny baby, her fourth child, but she didn't know what.

Jack was hospitalised in Orange with a respiratory infection at just three months old, and was back there aged just seven months with pneumonia.

"We had no idea what was going on, he was constantly sick," she said.

Blood tests were taken during that second stay and it was discovered that Jack's platelets were abnormally low.

"It took a while (to get answers)," Emma recalls now.

"In December 2021 we came down to the children's hospital.

"It was at that time we met his haematologist, Dr Bryony Ross, and she did some genetic testing because she had a hunch and at nine months old it was confirmed that he had Wiscott-Aldridge (syndrome)."

This is an immune deficiency that left Jack susceptible to infections and meant his platelets didn't function properly.

That diagnosis was hard but not as hard as the unknown. A diagnosis meant Jack could get life-saving treatment.

"With Jack's condition we quickly learned that he had to have a bone marrow transplant, if he didn't his life expectancy was pretty horrible - from five to 12-years-old," Emma says.

The whole family had genetic testing and it was discovered 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.

"She had to have an operation ... it was quite a big thing," Emma says.

"She is a superhero as far as I'm concerned."

The life-saving transplant took place 20 October, 2022 and Jack and his mum were in Sydney for four months.

Husband Paul was at home with the other three kids - Bethany (now 10), Owen (8) and Lily (4) as floods isolated and then covered their property.

As the second devastating flood peak hit, Little Wings flew the other children to Sydney.

"I think my husband is a superhero," Emma said. "He had to run the farm, he had to do everything - be a support to us but not being able to be in Sydney with Jack was very hard."

Mere months on, it's hard to believe Jack is the same child.

"It's incredible. He's not sick any more," Emma said.

"Looking back now, I never realised how horrible and how sick he must have felt all the time. He's a completely different child.

"He's still on a lot of medications but once we hit six months post-transplant a lot of the medications will fall away which is fantastic."

Bethany's bone marrow has effectively given her brother a cure, his 100-day tests show he now has 97 per cent donor marrow.

"He'll require monitoring for the rest of his life but hopefully it will just be annually," Emma says, although he may suffer some effects of the intensive chemotherapy he had before the transplant.

The Baxters have had incredible support throughout, staying at Ronald McDonald House on the doorstep of Westmead Children's Hospital and with Little Wings flying them to and from appointments.

"Those two charities - we'd be lost without them," Emma says.

"(Little Wings) take us to and from our appointments all the time, they even did compassionate flights to get the kids out when the floods were on, they are an incredible charity."

Little Wings also partnered with Hyundai Help For Kids to bring Santa - laden with the kids' Christmas wish lists - to their door in Sydney at Christmas.

This week, children at Forbes Public School and Forbes Learning Ladder dressed in their brightest colours to acknowledge Rare Disease Day, an important day for the Immune Deficiencies Foundation Australia to educate others people Australians living with immunodeficiencies.

People just like Jack.

Emma hopes raising awareness will lead to more research, more treatments, more answers for families like hers.

"You know something's wrong but you're not sure what's going on, it's impossible," she says of those early days.

"For some kids with a rare disease, it takes years to find out exactly what's going on."

Since diagnosis, the Baxters have been connected to other families ahead of them on the journey and an online support group. It makes all the difference.

"(Two years ago) If you'd asked me when Rare Disease Day was I probably wouldn't have been able to tell you," Emma admits.

Now it's a cause close to her heart and she's incredibly grateful to Forbes Public School and Learning Ladder for getting involved.

The Immune Deficiency Foundation Australia invites everyone to share their colours on Rare Disease Day.

Everyone is invited to light or decorate their home with the Rare Disease Day colours (green, blue, purple and pink).

Snap a picture of yourself with the illuminations or decorations you chose and publish it on your social media #rarediseaseda

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