Desperate search for stem cell donor for WA boy Ruben Earl, 4, with rare genetic condition

As Ruben Earl’s fifth birthday approaches, his parents are desperately fighting against the clock to keep him alive and healthy. One of just 600 people worldwide with a rare genetic condition known as DADA2, little Ruben’s only hope to stop the potentially life-threatening impacts of the condition upending his world is the donation of precious stem cells. Without it, father Ben Earl said, the condition would undoubtedly cause irrevocable damage to his son. “As he gets older, the chances of having a full stroke increase,” Mr Earl said. “It’s not if he has a stroke — it’s when he has a stroke.” For Ruben’s mum Tiarn Brandis, the past two years have been a whirlwind after initially presenting to Perth Children’s Hospital with concerns about bruising and petechiae — small reddish-purple lesions — on her then-three-year-old. She said doctors first offered up several concerning options for what might be causing her son’s symptoms, including blood cancer, but genetic testing in the US eventually found the true cause was a genetic abnormality. “We got those bloods back from America with this condition that the doctors and medical team at PCH had never heard of,” she said. “Quite early on they said that the evidence and research shows the best outcome for kids with DADA2 is a (stem cell) transplant, so they started searching for that on the national and international registry in May-June last year.” While those searches were fruitless, doctors eventually pushed ahead with transplanting stem cells from Ruben’s uncle — a 50 per cent match for the procedure — following a gruelling process of chemotherapy which targeted Ruben’s own cells. Ms Brandis said it was hoped chemo would attack her son’s defective cells and the new donor cells would “take over”. “We went into hospital in February of this year to go through the transplant process and initially we couldn’t go through that because Ruben’s liver wasn’t functioning,” Ms Brandis said. “It was too risky to go through the chemo, so we went back a couple weeks later in March, and unfortunately, the transplant didn’t work.” Now, the family are once again looking for a stem cell donor to help Ruben — urging West Aussies aged between 18 and 35 to join the bone marrow donor register, which lists all Australians eligible to donate their stem cells. “Ultimately, our little boy needs a (stem cell) transplant,” Ms Brandis said. “Raising awareness is a huge part of what we want to do for Reuben and for other children. “If people can educate themselves, and look up and make an appointment, go in and give a sample of blood — that’s all it takes to go on the registry. “You can literally save someone’s life.” As of the end of June, more than 7.7 million Australians were listed on the Organ Donor Register, while just 150,000 people are on the Australian Bone Marrow Donor Register — just 0.3 per cent of the eligible population. Ms Brandis said her hope was that one day stem cell donation would become as well supported as organ donation. “Somebody has to actually pass away before they get an organ, whereas to give stem cells you can be alive and well and back to work, you know, within 24 hours and it makes just as much of an impact on somebody, because you’re literally saving their life. “(Doctors) initially said they wanted to aim to have a transplant by the time he’s five and I think Ben and I are just very conscious that he turns five in October (and) we just don’t want to think about what’s going to happen if the donor isn’t found. “We need people to register.”