Finding out that your child has a rare genetic condition is hard enough. Discovering that it can progress into even more frightening conditions such as leukaemia and other life-threatening bone marrow disorders was truly terrifying for the family of three-year-old Max.
“When we were told about Max’s condition, we did a lot of research online about what it was—and it was all bad,’’ mum, Leah said.
Gorgeous little Max was born happy and healthy, but Leah and partner Jack soon noticed he was pale, fatigued and wasn’t reaching his milestones. Three months of testing eventually revealed that he had a rare condition impacting his pancreas—Shwachman-Diamond syndrome.
“When I started doing my research about Shwachman-Diamond syndrome, I read that a lot of the children can go on to have leukemia, aplastic anaemia and really scary bone marrow complications, which was very frightening,’’ Leah said “As a parent you don’t want to read that your child has a significant chance of developing leukemia. So, it was quite scary.’’
The recent COVID-19 pandemic may have put fear into the heart of every parent, but for Leah and Jack this is a daily experience. They live in a remote regional community, so medical care is not readily available if Max gets sick.
“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. Max has been so unwell that he’s needed to be flown out of our regional hospital, because we’re about six hours away from a big city hospital.
“I never get used to the emergencies. 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—and you just don’t know.’
The family has been involved with Jeans for Genes over many years, holding fundraisers in their small community to support research.
“We don’t know what the future holds for Max at the moment,’’ Leah said. “He’s doing really well, and he’s in preschool and he’s healthy. But I know that can change at any time. To be honest, the doctors don’t give you a lifespan, because it’s a condition where it’s so different for every child.
“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.’’
Learn more about Shwachman-Diamond syndrome here. You can help kids like Max right now by becoming a fundraiser, donating, volunteering or supporting friends who have signed up.
Story Source: Jeans for Genes Day
Image Credit: Max in jeans for Jeans for Genes day – Friday, August 7, 2020 (Image Credit: The Children’s Medical Research Institute).