The Alberta Children’s Hospital is proud to be a member of the Children’s Miracle Network and to benefit from the generosity of many national partners. Thanks to support from these organizations and their employees, we can ensure that kids at children’s hospitals across Canada have the very best in health care possible – when they need it most.

Madden is one of these children.

About 25% of kids at the Alberta Children’s Hospital are in hospital due to an underlying genetic condition. Next Generation Sequencing technology is providing faster answers to genetic and diagnostic questions that used to take years to solve. Thanks to community support, the Alberta Children’s Hospital Research Institute is now home to this technology.

In Madden’s first year of life he suffered from very severe head-to-toe eczema. No cream or eczema treatment would provide reprieve for this little baby boy.  He was starting to have difficulty digesting food and gaining weight, so he underwent a blood test which found that he had seriously low platelets. Conventional tests were inconclusive, leaving Madden without a diagnosis, and his parents worried for what the future would hold for their son.

Then on Mother’s Day, when Madden was two years old, he became seriously ill. Madden had caught a virus – and where most children would have a swift recovery, he was quite the opposite. He became sicker and sicker, requiring hospitalization in the Intensive Care Unit.  Specialisits knew something was not right, and suspected Madden had a severe immune-deficiency disorder. After spending five months at the Alberta Children’s Hospital, Madden was getting his health back, but the tests were still not providing any answers.

As all other tests had been exhausted, there was one more option for Madden. The genetics team at the Alberta Children’s Hospital Research Institute (ACHRI) were able to get him into a research study that involved running Madden’s DNA through the state-of-the-art Next Generation DNA Sequencer.  His DNA went into the sequencer on Monday, and by Friday they had the diagnosis they had been waiting for. Madden has a rare immune disease called IPEX Syndrome, and it is fatal without a Bone Marrow Transplant (BMT). The biggest risk for patients with IPEX syndrome is that they are reasonably healthy and they don’t get transplanted in time. So the team didn’t wait to act. They had the answer they needed, and they performed Madden’s first  BMT in September. His four-year-old sister, Everleigh, was the donor.

After spending seven months in hospital, Madden was able to go home just before Christmas. He’s rebuilt his immune system and is now preparing for his second bone marrow transplant.

The community-funded Next Generation DNA Sequencing Technology and the team at the Alberta Children’s Hospital behind Madden gave him a chance to survive by understanding exactly why he had such a severe illness.