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
Sorry for the long delay with updating. Days just seem to fly by anymore. For the most part everything has been going well. Scotty's treatments have been going great no problems there at all. In fact I was going to talk with his genetics nurse and/or doctor about increasing his rate. We have been at the same rate for over a year now and I was thinking since we are no closer to moving to a local hospital then we should try the rate increase while we are still at Stanford.... then I got some very disturbing news last week during Scotty's treatment that has changed my thought process. The plan has always been to get the cancer children into their own infusion center inside their Oncology ward well that new construction is nearly finished and what I was told last week by Scotty's nursing staff was that they (every staff member in the Day Hospital) were offered jobs only at the new oncology center.. if they didn't take the offer they'd have no job so of course they all sadly took the offer..... What does that mean for our Day Hospital????????????? Completely new staffing! All new nurses! I was shocked why weren't these nurses offered the option of staying there? This Day Hospital has to stay open as 40 f patients there are not oncology. No one seems to have an answer... On my way home that night I called Scotty's Genectics nurse to ask her if she knew anything about this? She said no they haven't been told anything. Obviously this is a big concern for them as they have many patients receiving some type of infusion and 3 that are receiving Scotty's drug. She is researching this for me and hopefully will have an answer by next week. If this in fact is what to happen then I will need their help in finding a local hospital for Scotty to receive treatments. If we are going to have to start at square 1 with new nurses it mine as well be close to home. Although our local hospital said no to Scotty's treatment this last summer we never did put any pressure on them but now we will and this will have to be done in a very short time. There have been times before where I felt that Stanford (actually Lucille Packards Children Hospital LPCH at Standford) was not looking out for the best interest of the children receiving treatments there and this is definitely one of them. As always I will voice my concerns with Patient Relations as I have done a few times before. I will keep you posted :)
On a happier note we at the Coast at our favorite RV park for the whole week. Our friends will be arriving today and staying through Saturday so we are going to have a great Thanksgiving together. Scotty had treatment yesterday so we will just relax the rest of the week and enjoy our time here. I hope you all have a wonderful Thanksgiving. I know we have so many things to be thankful for and on the top of my list is all of you who have been the greatest friends ever.
Happy Thanksgiving Many Hugs and lots of Love Kim & Scotty
Duke Pediatric Bone Marrow and Stem Cell Transplant Program
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