About Hunter Syndrome

Hunter Syndrome (otherwise known as Mucopolysaccharidosis (MPS) type II)is a rare X linked genetic disorder, occurring in approximately 1 per 170,000 live male births. MPS II is one of seven MPS disorders. In Hunter syndrome, the body's cells lack an enzyme (iduronate-2-sulphatase or I2S). Without I2S, the cells in the body cannot breakdown a specific product: glycosaminoglycans or"GAGs". GAG's are toxic to the body. As the GAGs accumulate, they cause damage throughout the body. This damage manifests as  breathing problems, hearing loss, weak tooth enamel, enlarged tongues, enlarged livers and spleens, defective heart valves, skeletal deformities, short stature, hydrocephalus, macrocephaly, nerve conduction problems - and in 75% of children, progressive mental retardation.  Children with the severe form of Hunter syndrome, typically plateau cognitively between the age of 2-4, and subsequently start to regress and loose their cognitive skills. Prior to the era of Elaprase, the average life expectancy of children with Hunter syndrome was between the age of 10-20.

 As of yet, no definitive cure exists for Hunter syndrome. Elaprase, a synthetic form of the enzyme the boys are missing, was approved by the FDA in 2006. Elaprase helps with the enlarged organs, breathing difficulties, and joint stiffness but it does not prevent cognitive decline because it does not cross the blood brain barrier. Elaprase does not prevent hearing loss, spinal cord problems, retinal changes, and heart disease.

The money raised from this fundraiser will help us find a cure for Aidan. Please help protect Aidan and other young boys like him from the devastating effects of this disease.