•Females have two X chromosomes, one inherited from each parent, whereas males have one X chromosome that they inherit from their mother and one Y chromosome that they inherit from their father.
•“If a male has an abnormal copy of the I2S gene, he will develop Hunter syndrome. A male can obtain an abnormal copy of the I2S gene in one of two ways. His mother is often a carrier; i.e. she has one abnormal and one normal I2S gene, and she passes along the abnormal gene to him. However, during fertilization a mutation can develop in the I2S gene on the male’s X chromosome”.
•“In this case, the mother is not a carrier and the risk of a spontaneous mutation occurring again in a future sibling is low but not zero. Females can carry one abnormal copy of the I2S gene and are usually not affected”
•Most times there is no known family history of hunter syndrome. Therefore potential Mum’s are generally unaware they carry the faulty gene. This lack of knowledge or information carries on to the next generation resulting in a family potentially having a child with hunter syndrome.
•The I2S faulty gene historically can miss several generations and appear in a family when least expected. Since hunter syndrome is a genetic condition there is no way to know if someone is a carrier unless tested for the gene mutation
Diagnosing and testing
•Babies born with hunter syndrome (MPS-II) generally appears very healthy and normal at birth. Not until between the ages of 16-24 months when noticeable features may appear such as coarse facial features and stiffing joints.
•To diagnose hunter syndrome a simple blood and urine sample is collected and a doctor will look for excess glycosaminoglycans in a child's urine or a deficiency of enzymes in their body fluids or cells. A few weeks later a positive or negative result will be know with 99% accuracy
•In the more severe form of the condition patients have intellectual difficulties leading to brain impairment. However this does not lead to an early death.
•Given hunter syndrome is progressively degenerative disorder it is the horrible physical effects that cause most patients to generally only live until the second decade of life.
Cure for hunter syndrome (MPS-II)?
Currently there is no cure for hunter syndrome, however given that MPS-II is an enzyme deficiency, Elaprase provides the the body this vital enzyme required and hence stabilises the affects of this rare disease.
•There are currently some promising new developments being undertaken by the drug manufacturer ‘Shire’.
•Elaprase is currently been trialled in the United States and the United Kingdom to cross the blood brain barrier for those patients with central nervous system involvement and so for the results are quite promising.
This website exists to provide information and raise awareness about Hunter Syndrome. To advocate and pioneer access to Life Saving Treatments The fight forChristian! With God all things are possible! (Matt.16:26)