Grayson McGill's story - Living with Maple Syrup Urine Disease (MSUD)

Toddler Grayson McGill has a rare metabolic disorder where regular food can make him ill. Chad Farquharson and his husband Wayne McGill must take extreme care in monitoring their son's protein consumption. The couple must measure the amino acids consumed by Grayson down to the exact milligrams; if they are off, the results could easily be catastrophic.

Grayson has Maple Syrup Urine Disease (MSUD), a rare and potentially deadly metabolic disorder that causes amino acids from proteins to accumulate in the body. Grayson is unable to process three amino acids -- leucine, isoleucine and valine. The disease's saccharine name, which comes from the sweet smell of the patient's urine, belies the seriousness of the condition. The toxicity it causes can lead to brain swelling, mental retardation, coma and death. Grayson's life will hinge forever on his ability to delicately balance the amount of amino acids he consumes each day.

Grayson's diagnosis was made just after he'd undergone open-heart surgery to repair life-threatening defects. The operation was successful, but a few hours later, his new parents were told that he had the disease. A neurologist had noticed subtle swelling in his brain and became concerned about a metabolic condition. Because BC Children's Hospital began screening for MSUD as part of an extended screening program that now includes 22 conditions, the neurologist's question was readily answered.

The quick result of the testing meant doctors could instantly respond to Grayson's dietary needs. Grayson was also born with a heart defect, and required open heart surgery as an infant. Through the testing prior to his surgery, his MSUD condition was discovered.