Finding cures for children's genetic diseases

Max's Story


Little Max faces a very uncertain future – but his family are determined to do what they can for him and for generations of children with genetic conditions.


“I’d never thought about genetic conditions,’’ Leah said. “There are a lot out there, and I think more research is needed because so much is still unknown.’’

Max was born a bouncy, healthy baby, but within months he started to lose weight rapidly. It was even more frightening and frustrating for the family because they live in regional NSW, half an hour out of Moree, so rushing to hospital is not easy.

“I felt everything I was doing was wrong,’’ mum, Leah said.

Eventually tests found that Max’s pancreas was not creating enzymes for digestion. He was then diagnosed with Shwachman-Diamond Syndrome. People with this genetic condition cannot absorb fats and other nutrients, due to abnormal development of the pancreas and improper functioning of the bone marrow. They also have a very low white cell count.

It is so rare that their specialist only had one other patient with the condition.

“I went into denial,’’ Leah said. “It was great to know what was wrong, but it was months before it really hit and I could digest what we’d been told.

“It is very scary to think that if he gets a cold, or any kind of temperature, that he has to get to hospital. Some people with this condition die.’’

Now at the age of 13 months, Max is tube fed his food and faces ongoing surgery in the future.

“He’ll have a bone marrow biopsy every couple of years, and his brain and skeletal system may be affected. The worst case is he’ll need a bone marrow transplant and many people go on to develop leukaemia.

“We don’t know what he may face. But we’re very mindful of trying not to overthink everything. We want to be semi-normal. It’s very much a case of wait and see.’’

One day we will beat childhood diseases. Until then, we need your support.