IN DEPTH

Pallamallawa boy Max Hyles is one of the faces of the 2020 Jeans for Genes Day campaign

Moree Plains Shire residents might notice a familiar face in the promotion of this year's Jeans for Genes Day, as Pallamallawa youngster Max Hyles stars as one of the brave faces of the 2020 campaign.

To look at the smiling face of three-year-old Max, you would never know that the risk of an infection could be life-threatening and that his chances of developing leukaemia or other serious bone marrow disorders is greater than most.

But that's the reality for the Pallamallawa boy, who was diagnosed with an extremely rare genetic disorder at about six months old.

Max's condition is so rare that he is one of only 10 people in Australia diagnosed with the disorder and there is currently no known lifespan for sufferers.

"The doctors don't give you a lifespan because it's a condition where it's so different for every child, but I know from my own research and Facebook group that as they get older, the risks definitely increase," Max's mum Leah Hyles said.

"His specialist had looked after one other child with this condition, so it was quite scary that they didn't know a lot about it.

"That definitely scared us at the start."

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Although Max was born healthy, Leah and husband Jack soon noticed he was pale, fatigued and wasn't reaching his milestones.

"When Max was about three months old, we noticed that he wasn't gaining a lot of weight," Leah said.

Three months of testing eventually revealed that Max had a rare condition impacting his pancreas - Shwachman-Diamond syndrome.

"When we were told about Max's condition, we did a lot of research online about what it was - and it was all bad," Leah said.

"I read that a lot of the children can go on to have leukaemia, aplastic anaemia and really scary bone marrow complications, which was very frightening.

"As a parent you don't want to read that your child has a significant chance of developing leukaemia.

"It was very overwhelming; we felt scared, we didn't know what was going on."

Besides having a feeding tube into his stomach, Max is currently healthy and happy and is regularly attending preschool.

However, if his temperature spikes above 38 degrees, he has to be rushed to hospital to check his white blood cell count to ensure he can fight infection.

"Infection is a massive risk for us because of the potential for bone marrow failure,'' Leah said.

"Whenever he gets a fever, we have to take him to the hospital. There's been so many times that he's been flown off to Tamworth or John Hunter Hospital in Newcastle."

Living 40 minutes away from Moree Hospital, makes it even more worrying for Leah and Jack.

"I never get used to the emergencies," Leah said.

"You never know what's going to happen. Sometimes he might just have a cold and get a temperature and we follow our protocol, but you're always worried that it could be something more serious.

"He could get sepsis, and this could be it - you just don't know.''

Max currently has to have a blood test once every two months and bone marrow biopsies every year or two in order to pick up any deficiencies as early as possible.

"People with Shwachman-Diamond syndrome have a higher chance of getting leukaemia, so they need to get it really early in these kids, otherwise they don't survive," Leah said.

"So we're just monitoring him at the moment; there's nothing else we can do. But we've got really good doctors at John Hunter which is very reassuring.

"I know he's not going to stay this way [healthy], so we just have to try and enjoy him at the moment while he's good."

The Hyles family has been involved with Jeans for Genes ever since Max was diagnosed with Shwachman-Diamond syndrome, and have held a number of fundraisers locally to support research into genetic diseases.

"I love Jeans for Genes because it's not just one specific condition - my son's condition is so rare that there's not a specific charity for it in Australia," Leah said.

"There are so many kids out there with all sorts of genetic conditions.

"I think it's good they do research for all conditions. Even though I know they're not researching my son's condition, the research they are doing could help my son one day."

This year, Max was asked to be one of the faces for this year's Jeans for Genes campaign, and Leah said they were more than happy to be a part of it.

Although they can't hold physical fundraisers this year as a result of COVID-19, Leah encourages people to do what they can to support the work Jean for Genes is doing in finding cures for previously incurable genetic diseases.

"Any small donation helps, it doesn't have to be a lot," she said.

"We don't know what the future holds for Max at the moment. He's doing really well, and he's in preschool and he's healthy. But I know that can change at any time.

"I think that people should support Jeans for Genes, because I believe that every child should have the opportunity to be who they want to be and who they're supposed to be - and not have their medical condition tie them down.''

If you would like to support the family's fundraising efforts, go to www.myjeansforgenes.org.au/maxs-jeans-for-genes-fundraiser-2020

Jeans for Genes is the iconic fundraising campaign behind Children's Medical Research Institute, which aims to find cures for children's genetic diseases. Jeans for Genes Day will this year be held on August 7.