Karl Swaine is nine years old. He has a rare progressive and genetic disorder called Hunter syndrome.
This disorder prevents the body from breaking sugar molecules down. Throughout the world, there are about 2,000 cases.
Karl received his Hunter syndrome diagnosis at 2 years old.
His mother Sharon Byrne, thought he was a healthy baby. She did not have any concerns until one night she saw that his belly button was sticking out. This was unusual and she believed it might be a hernia. Karl was taken to the hospital. The doctor thought his head was abnormally large and referred them to a pediatrician for further examination. Then a pediatrician stated that Karl probably had a metabolic disorder due to his distinct facial features such as a flat nose.
Later, Sharon recalled that her younger brother had a metabolic disease known as Hurler syndrome.
He could not talk. Her brother had a stroke because of the condition and had to use a wheelchair when he was nine. He passed away at the age of 11 and Sharon feared that her son would too. Karl was tested for Hurler syndrome and the results were negative. Karl’s pediatrician kept running tests until he could get the right MPS diagnosis.
Although there is no cure, Sharon remains positive as Karl has a milder version of the disease. Although they know there is a tough road ahead of them, Sharon is determined to make sure Karl is as healthy and happy as can be.