Hunter syndrome is a rare, hereditary, lysosomal storage disease that primarily affects males.
In people with Hunter syndrome, an enzyme called Iduronate 2-Sulfatase (IDS) is missing or does not work properly. This leads to an abnormal buildup of complex sugars in tissues throughout the body, including the skeleton, joints, brain, spinal cord, heart, spleen and liver.
Hunter syndrome is often severe and always progressive. It affects the brain and spinal cord, resulting in debilitating signs and symptoms that include developmental delay, and progressive mental decline. It also affects the body resulting in loss of physical function, impaired language development (due to hearing loss and an enlarged tongue), corneal and retinal damage, carpal tunnel syndrome and restricted joint movement.
Hunter syndrome affects approximately 7,600 people worldwide, with approximately 25 percent in the U.S.1 Hunter syndrome is also known as mucopolysaccharidosis type II, or MPS II.
~ Maria Duran
Project Alive is an awareness and fundraising campaign of nonprofit Saving Case & Friends, Inc., to benefit Hunter Syndrome research.
Video by Project Alive captures the reality of living with Hunter syndrome. Children answer the question: what do I want to be #WhenIGrowUp.
1 What is Hunter Syndrome? News-Medical.net. AZoNetwork, 2000-2014