Please join us in Jackson’s journey with MPS II. On July 22, 2011 Jackson (3 years) was diagnosed with Hunter Syndrome (MPS II). Hunter Syndrome is a rare genetic disease that occurs when an enzyme your body needs is missing or not working. Because the body does not have enough of the enzyme to breakdown certain complex molecules, the molecules build up in harmful amounts throughout the body. The buildup that occurs eventually causes permanent, progressive damage effecting appearance, mental ability, organ function and physical abilities.
Hunter Syndrome is always severe, progressive and life limiting.
There is no cure for Hunter Syndrome, only management of symptoms and complications. We are extremely lucky that a drug called Elaprase became available a few years ago to act as an enzyme replacement therapy (ERT). Hunter Syndrome is primarily found in boys – Sydney shows no signs – but will need to be tested in the years to come to make sure she is not a carrier.
Now Jackson has a team of Doctors following him: Metabolism, Genetics, Cardiology, Ortopedics, ENT, Audiology, Urology, Pulmonary, Allergist, Hematology, Developmental, Optometry and Primary Care Pediatricians. He receives OT, Speech, PT and feeding therapy.