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A Look at Hunter Syndrome

3/30/2016

 
by Alicia Bodine, Contributing Writer
As a mother of a disabled child who has Angelman Syndrome, I am often thrown into situations where I get to meet other children with disabilities and conditions that I have never heard of. I like to do a little research on the syndromes, etc. that I don't know much about. Hunter Syndrome falls into that category. Here is what I learned about Hunter Syndrome:

​
Hunter Syndrome is genetic and hereditary. It is also called Mucopolysaccharidosis II. Hunter Syndrome patients suffer from a disease that keeps the body from breaking down and ultimately eliminating waste from cells. Health problems always result when the cells build up too much waste without having it be removed. Hunter Syndrome is quite rare with only 2,000 people having it worldwide.

Hunter Syndrome almost always affects boys because it is linked to the X chromosome. Boys only have one X chromosome where girls have two. When a girls has one X chromosome that is functioning properly it can overtake the one that is not. Those girls would still be a carrier even if they had no symptoms of their own. They could easily pass it on to their children without even knowing it.


What are the Symptoms of Hunter Syndrome: All Hunter Syndrome patients have the following symptoms: Coarse facial features (which includes a prominent forehead, nose with a flattened bridge, and an enlarged tongue), macrocephaly, stiffening of the joints, increased hair, hearing loss (mild or severe), enlargement of internal organs such as liver and spleen, abnormal retina, and carpal tunnel syndrome. In mild cases of Hunter Syndrome you may find little or no mental retardation. In severe cases, however, mental retardation can be quite severe.


Hunter Syndrome patients can live anywhere from 20-60 years if they have a mild case. Severe cases have a life expectancy of 10-20 years. There is currently no cure, however, scientist have begun trying an enzyme replacement therapy. It is still in the experimental stage so no results have been published. Some patients have undergone bone marrow transplants, but the results greatly varied.


If you know someone who has Hunter Syndrome you may want to direct him or her to hunterpatients.com. There they will find helpful resources, support groups, and healthcare resources. They can even locate other Hunter Syndrome Patients around the world. There is also a newsletter you can sign up for that will keep you informed of any new updates.


Anyone with Hunter Syndrome is eligible to contact Onepath and speak to a case manager who is capable of addresses any of your concerns. You can call OnePath at 1-866-888-0660. Case managers are available Monday through Friday, 8:30 a.m. to 8:00 p.m. Eastern Time.

Note: This article was previously published on the Yahoo Contributor Network.



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