What is Hunter Syndrome? Hunter syndrome, or mucopolysaccharidosis II (MPS II), is a very rare genetic disorder that primarily affects males. It interferes with the body's ability to break down and recycle specific mucopolysaccharides (mew-ko-pol-ee-sak-ah- rides), also known as glycosaminoglycans (gli-ko-sah-mee-no-gli-cans) or GAG. Hunter syndrome is one of several related lysosomal storage diseases. It is estimated that 1 in 100,000 males births are affected by MPS II. There are an estimated 2000 MPS II individuals world wide.
In Hunter syndrome, GAG build up in cells throughout the body due to a deficiency or absence of the enzyme iduronate-2-sulfatase (I2S).This buildup interferes with the way certain cells and organs in the body function and leads to a number of serious symptoms. As the buildup of GAG continues throughout the cells of the body, signs of Hunter syndrome become more visible. Physical manifestations for some people with Hunter syndrome include distinct facial features, a large head, and an enlarged abdomen. People with Hunter syndrome may also experience hearing loss, thickening of the heart valves leading to a decline in cardiac function, obstructive airway disease, sleep apnea, and enlargement of the liver and spleen. Range of motion and mobility may also be affected. In some cases of Hunter syndrome, central nervous system involvement leads to developmental delays and nervous system problems. Not all people with Hunter syndrome are affected by the disease in exactly the same way, and the rate of symptom progression varies widely. However, Hunter syndrome is always severe, progressive, and life-limiting.
On July 25, 2006 The FDA approved Enzyme Replacement Therapy (ERT) for Hunter Syndrome (MPS II). Elaprase is a manufactured version of the body's natural iduronate sulfatase enzyme that is given weekly via IV infusion. On Sept. 12, 2006 Scotty was the 8th Hunter patient in the US to receive this weekly treatment. Scotty received his weekly treatments for the first 2.5 years at LPCH at UC Stanford. Beginning June 09 Scotty began receiving his weekly treatments at our local hospital(Memorial Hospital). Because of Scotty's issues with all his reactions with his treatments it will be a while before we do this treatments at home. Most of the boys go to home treatments just 6 months after starting treatments if they are reaction free. ERT is not a cure for MPS II.
We have created this website to keep our family and friends updated about Scotty's medical condition and treatments. To learn more about Hunter Syndrome Click Here to visit the MPS Society Website
Scotty & Jeff (Shire Rep)
To learn more about Scotty's drug Elaprase & Shire Pharmaceutical
Well friends I have officially hit an all time low with my journal updates! I am one week shy of a year since my last update and I am very sorry. I realize now not everyone is on social media and do look for updates.
Scotty is turned 15 years old 3 days ago! I can't believe it. I know how i have mentioned it in the past that his birthday although the greatest day of my life is very hard to celebrate. The older he gets we know the less time we have with him and that is difficult. This year I bit the bullet and decided to have a big birthday bbq for him. It was mostly family because my family is so large but everyone had a great time including Scotty.
Scotty started his high school this August! He is officially a freshman at Beyer High School. I love his school and his great teachers/aids/classmates. Everyone is so wonderful and they all truly love the special ed children. Currently Scotty is being mainstreamed into Reg Ed classes for Art, Band and I think now literature! The day starts much earlier for him ... first class is at 7:55 opposed to an hour later in Jr. High but he is home by 2:30.
Scotty is still receiving his weekly infusions at our local Hospital and still taking Corky Scotty's Emotional Support Dog with us. It was 3 years in June that we finally transferred to local hospital. We spent 2.5 yrs before that communting Stanford and now as of this month he has been getting the weekly treatment for 6 years! I fought to get these treatments at home but our private ins. would not cover it due to him not being totally homebound. I know I could get funding for a home nurse to do the treatments but the truth is we are only 10-15 minutes from our hospital and I feel safer there and I love all of Scotty's nurses.
I promise I will continue to check back here to see if anyone is visiting the website so please sign the guestbook if you are. I am going to see if I can remember how to add updated pictures. The one up top was taken on Scotty's 14th birthday. I believe he looks completely the same but I will try to update this picture and add some more.
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