SCOTTY has been diagnosed with Hunter Syndrome (aka MPS II). What is Hunter Syndrome? Hunter syndrome, or mucopolysaccharidosis II (MPS II), is a serious 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.
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). On Sept. 12, 2006 Scotty was the 8th Hunter patient in the US to receive this weekly treatment. Scotty receives his weekly treatments at LPCH at UC Stanford. Hopefully after 8 months to 1 year we will be able to have the infusions done at home. Regulatory approval of ELAPRASE will enable physicians to move needy patients beyond palliative care and make Hunter syndrome a treatable disease, said Joseph Muenzer, MD., Ph.D, of the University of North Carolina at Chapel Hill. Until today, there were no options for addressing the underlying cause of this devastating disease.
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
On October 18th we will be attending the MPS Walk/Run in LA It is an awesome fundraiser organized by my very good friend Tami. She puts her heart and soul in to this fundraiser and we really want to be there to support her and all MPS Families. We are trying to think of a Team Name for Scotty so if you have any suggestions feel free to leave them in the guest book! Of course you can always donate to this Fundraiser in Scotty's name on their website. All funds go directly to the MPS Society. For Donations click here then scroll down to middle of the page and pick your donation amount and follow the instructions from there. Help us help the children who are still waiting for a treatment and Hope! Thank You!
Journal
Saturday, August 30, 2008 8:12 AM CDT
Hello Everyone
Well I can not believe that summer is over! I think this summer was the first summer that Scotty has spent very little time outside (when we were home) because of 1. all the fires and 2. the heat. I don't even want to know how many times my little Scottyman tried to open all the sliders to get to the back patio to his little bench :( I just couldn't let him go out into the bad air... on the hot days he did go outside and hang out with daddy later on in the evenings so he enjoyed that but I know he missed sitting in the sun. I see no change in the near future of our hot weather...it was 105 yesterday. Today we are heading out with our trailer for the holiday weekend to our friends house in Paradise which is in the foothills and hopefully a little cooler.
Scotty started school on Monday and seems to be enjoying himself. He has a new aid this year who seems to have more patience and compassion than his 1:1 aid that he had for about 1.5 years who was really too young. I don't think her future was in special ed and you can always tell that right away. Of course there are always some issues at the beginning of the year but I thought I would be nice and let everyone get settle before I start bringing them up which I will do on Tuesday.
Thursday's treatment went well...it was the commute there that was terrible. A truck caught on fire and completely burned and also started a grass fire so it took us 3 hours to get to treatment. grrrrrrrrrrrr So it was a long day with us getting home at around 8:00 p.m. Scotty slept quite a bit that morning and I'm sure it's because he is tired from starting school. On Friday morning I just couldn't wake him up to catch the bus to school so I let him sleep until he woke up and that was around 10:00 a.m. then I took him to school. Scotty's local Pediatrician called me on Wednesday to let me know that our local hospital has decided they do not want to do the ERT at their hospital until Scotty has been reaction free for 1 year! WELL GOOD LUCK ON THAT ONE! I was telling his Genetics nurse that maybe everyone should look at the big picture here that he has had 1 reaction in a year instead of the "reaction" being 8 weeks ago. I think that is only fair. We have a second hospital here in town but it does not accept our Private Ins. but I think we may be able to get our Ins. to pay out of Network coverage. This is what they do for his Physical Therapy. We are all still working on it...Scotty's Case Mgr. has assured me she will do her best to get Scotty treatment locally and she is amazing and I know she will. Tami, one of Scotty's nurses came into his room on Thursday was this awesome little toy for Scotty. She had found it at a local Toy specialty shop and she said when she saw it she immediately thought of Scotty. It has many bright colors like his fish and kind of makes the same clicking noise. It's a series of colorful blocks that are held together by a strong elastic string so he can do many things and shapes with these blocks. He hasn't put it down much since she has given it to him.
Well I have to start loading up the trailer so thank you all so much for checking in on Scotty and we hope that you all have a safe and wonderful Labor Day weekend. Hugs and Much Love, Kim
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Tami, one of Scotty's nurses came into his room on Thursday was this awesome little toy for Scotty. She had found it at a local Toy specialty shop and she said when she saw it she immediately thought of Scotty. It has many bright colors like his fish and kind of makes the same clicking noise. It's a series of colorful blocks that are held together by a strong elastic string so he can do many things and shapes with these blocks. He hasn't put it down much since she has given it to him. 
