Grayson McGill and his family know firsthand the benefits of quick testing and results. Shortly after undergoing open-heart surgery to repair extensive defects, Grayson was diagnosed with Maple Syrup Urine Disease (MSUD), a rare and potentially fatal metabolic disease that prevents the body from processing three amino acids. The build-up of these amino acids leads to toxicity and can result in neurological complications.
As scientists dig deeper into understanding genetics and the human genome, they’ve uncovered that all diseases have a genetic component. Though most genetic conditions are rare, some of these disorders arise from a child’s inheritance of a mutated gene; others may occur with new changes to the DNA during a person’s lifetime.
This year, premier Christy Clark joined BC mining industry representatives -- members of Mining for Miracles -- to announce a pledge of $3 million to fund the CAUSES Clinic, a new BC Children’s Hospital initiative. The clinic aims to help families of children with rare genetic conditions in their diagnosis and treatment.
Through the Mining for Miracles fundraising initiatives, British Columbia’s mining industry has acted as a staunch advocate of excellence in child health at BC Children’s. The new CAUSES Clinic will provide diagnostic DNA testing that is both efficient and effective. The new clinic will provide children with undiagnosed genetic conditions in one rapid, conclusive test, as opposed to several tests, some of which are invasive.
The new CAUSES Clinic will provide families with extensive genetic counselling, detailed interpretations of testing results, and personalized plans for treatment. Never again will children with undiagnosed illnesses be expected to withstand multiple tests over long periods of time without conclusive results.
In the first three years of its inception, the CAUSES Clinic is expected to test at least 500 children to detect genetic disorders that may have gone undiagnosed, and offer support to their family members. The new clinic will also help to reduce the number of invasive tests required to diagnose these conditions. This will lead to a significant reduction in medical costs to both families and the health care system.
Read Grayson’s Miracle Story and see what a difference a quick diagnosis can make in the lives of children suffering from rare conditions.