Immunodeficiency real lives
The Ashburner family, Stuart, Liz and their children, Julia and William, live on the NSW central coast. ‘When the children were younger, we enjoyed a healthy, busy family life with both William and Julia playing soccer and being involved in the local surf club,’ said Stuart.
Then in 2011, 5-year-old William developed double pneumonia. When this recurred, testing began and in 2013 William was diagnosed with the rare disorder, X-Linked Lymphoproliferative 1 (XLP1).
Often close to death, he suffered cerebral vasculitis and stroke. William had two bone marrow transplants with complications, including pancreatitis, a ruptured bladder, bleeding in the lungs and kidney failure needing dialysis.
‘Our family went into a holding pattern,’ said Liz. ‘William was in the hands of the doctors. Our daughter Julia felt unseen and unloved by us and she became very attached to another family who had also been through tragedy years earlier, they took her under their wing. Stuart and Julia have both needed counselling.
‘Even after hospital, we lived on the edge with many visits for extra treatment. We are still trying to be normal with times of depression for everyone in the family, extending to Will’s grandparents. Financially it was extremely difficult and without the help of Central Coast Kids in Need and the understanding of our bank, we would have lost our home.
‘Will now appears completely normal, apart from being about 30cm shorter than all of his friends. Playing tennis and soccer, he is always gaining strength and is a very passionate and loving boy. He is also very messy and forgetful, like most 12-year-olds. He is in year 7 in high school and has a teacher’s aide, as well as tutoring during school hours provided by Ronald McDonald House.
‘Garvan’s research into X-linked immune disease is important because there is so much that is still unknown. We know that X-linked disease is passed to mainly male children by the mother and this research means that our daughter, Julia, will now be tested for the gene and can take steps to avoid passing on XLP1 to her children.’
Shannon and Daniel Maitland-Moore welcomed Tudor as the latest addition to their family in 2012. ‘We were a happy family, living in the country and adjusting to life with two gorgeous kids,’ said Shannon.
‘For the first few months while Tudor was being protected by my antibodies he was healthy, and at six months was chubby, rosy-cheeked and eating well.’
Shannon took the kids to Melbourne for a short holiday to visit her family in October 2012. ‘Tudor was not feeling well, he was losing weight rapidly and was very grumpy and hard to settle. On our third day in Melbourne he was rushed to the children’s hospital and placed in intensive care.’
Tudor was diagnosed with Hyper IGM (an immune disorder) and Shannon and Daniel were informed that Tudor would need a bone marrow transplant. The transplant took place in October 2013 and involved a full week of chemotherapy, followed by an infusion of donor bone marrow from an unrelated donor in Germany.
The situation threw the entire Maitland-Moore family into crisis. ‘I took on most of the care and decision-making for Tudor. Daniel had just started a new job and had a lot of trouble getting time off, causing extra stresses in our relationship. My parents moved from Melbourne to support us all during the transplant.’
Two and a half years post-transplant, Tudor is doing well. ‘He still has some separation anxiety, often struggles with bouts of croup and has very dry, cracked skin. The next big test will be puberty when we see what, if any, issues the chemo has created.’
Shannon now knows that she is a carrier of the gene mutation causing Hyper IGM and is concerned that their six-year-old daughter could also be a carrier and what the future holds for her and her children.
‘When I read about the research that Garvan is conducting I feel comforted. Just knowing that the Garvan have excellent scientists working hard every day to help kids with complex immune issues makes me feel like I’m not bearing the weight of the world alone. The Garvan research gives me hope that Tudor will have a bright, healthy future.’