![The Hyles' family, Jack, Max, 7, Remi, 3 and Sonny, 15 months old, are ready for a day of fun on Sunday in support of Jeans for Genes and the Children's Medical Research Institute. Picture by Gareth Gardner The Hyles' family, Jack, Max, 7, Remi, 3 and Sonny, 15 months old, are ready for a day of fun on Sunday in support of Jeans for Genes and the Children's Medical Research Institute. Picture by Gareth Gardner](/images/transform/v1/crop/frm/ingYyB85ps4jmG9t8mfsHP/6b6866d6-b082-4ce9-a28e-d62f61ee6f84.jpg/r0_0_7012_4815_w1200_h678_fmax.jpg)
Max Hyles loves school, loves kicking the footy around at lunchtime, and loves his soccer. For all intents and purposes, he is just like any other seven-year-old.
Subscribe now for unlimited access.
or signup to continue reading
But, hiding behind the Manilla boy's cheeky grin is a battle with an extremely rare genetic disorder.
When he was about six months old, Max was diagnosed with Shwachman-Diamond syndrome (SDS).
First termed in the 1960's, the debilitating disorder can affect various parts of the body, but predominantly impacts the bone marrow, bones and pancreas, and carries an increased risk for sufferers of developing leukaemia and other bone marrow complications.
In Max's case it affects his pancreas.
Thought to occur in around one in 80,000 newborns, recalling what led to the diagnosis, his mum Leah said he wasn't gaining weight, wasn't meeting his milestones and was pale and fatigued.
After three months of testing, it was eventually revealed that he had SDS.
![Max was diagnosed with SDS when he was about six months old. Picture by Gareth Gardner Max was diagnosed with SDS when he was about six months old. Picture by Gareth Gardner](/images/transform/v1/crop/frm/ingYyB85ps4jmG9t8mfsHP/7fde98d8-af99-40d2-a39a-6bc0a8f17033.jpg/r0_0_7360_5005_w1200_h678_fmax.jpg)
The first time they'd ever heard of the disorder, and with so little known about it, Leah said it was pretty scary for her and husband Jack.
"He was our first baby as well, so we had no experience with kids really in general," she said.
"So to have that thrown at us as well was pretty confronting."
For the first three years, Max was on multiple tube feeds a day.
The risk of infection also meant that anytime he got a temperature he was admitted to hospital. At the time living in Pallamallawa, it was a 40 minute trip into Moree, and sometimes he would end up being flown to Tamworth or John Hunter Hospital in Newcastle.
Thankfully the last few years he has "been pretty good".
"He's on medication daily to help him digest food, and a few other things," Leah said.
He also has blood tests every few months, and once a year goes down to John Hunter for a bone marrow biopsy to look for any changes in his blood cell counts.
But, to look at him, apart from being a bit smaller than other kids his age, Leah said you probably wouldn't know what was going on.
"He's actually thriving and he's doing really well at the moment," she said.
![In 2020 Max was the face of the Jeans for Genes campaign. In 2020 Max was the face of the Jeans for Genes campaign.](/images/transform/v1/crop/frm/ingYyB85ps4jmG9t8mfsHP/e1ed3332-5950-4f68-ad9c-9316ed947bc4.jpg/r0_0_452_678_w1200_h678_fmax.jpg)
"At the moment" is the key phrase, though.
Things can change at any time and research tends to indicate that as sufferers get older the risks increase.
Presently there is no cure, but there is a lot of research work going into gene therapy, which would be a life-changing breakthrough for those with genetic conditions.
It's one of the reasons the family have been steadfast supporters of the Jeans for Genes campaign.
Raising funds for the Children's Medical Research Institute, since Max's diagnosis, they have organised a number of fundraisers.
This year they are running a Family Fun Day at Manilla on Sunday July 28.
"We just kind of tailor it to Max's age, stuff that he would enjoy," Leah said.
Running from 11am-2pm at the Manilla Services Club, there will be a jumping castle, face painting, sausage sizzle, raffles and games.
Entry is gold coin donation and attendees are encouraged to wear denim.