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
Save the Date To celebrate it's 35th anniversary, the National MPS Society will host its 2009 Family conference in Disney World at Disney's Coronado Springs Resort, December 17-20, 2009
Journal
Saturday, July 4, 2009 7:49 PM CDT
Hello Everyone
I hope you all are enjoying your 4th of July! We just returned home from taking Scotty to see Ice Age 3 at the movies which he thoroughly enjoyed! He sat in his own seat the whole movie like a big boy... he was so good. We had taken his stroller in so he could sit in it right there at the handicapped seating but it was too close so we just parked the stroller and walked him up to a seat that was a little further away from the screen. Not one time did he want to leave the movie and even laughed appropriately during the movie! So now we are home and I have a few minutes before dinner and watching fireworks tonight so I thought I'd update Scotty's journal.
Things have been going great. Scotty has been attending summer school and he has about 2 more weeks left. I think summer school is over the day we leave for Camp Prime Time (www.campprimetime.org) which is the middle of July. We are going to fly into Seattle the day before and do a little sight seeing and then drive back to Seattle after camp for a couple more days of sight seeing before flying home... I can't wait to see our other MPS friends that we haven't seen in a couple of years. We are going to have so much fun.
Scotty's treatments that we are now doing locally are still going wonderful. We did his 4th treatment last week. We really miss our nurses at Stanford but I know they are so happy that Scotty is being cared for by such great nurses here at our local hospital. We have the SAME ROOM AND NURSE(Rae)EVERY WEEK! I asked last week what is going to happen when winter arrives and their whole pediatric floor is full and they said it doesn't matter because Scotty's room is reserved every Thursday for him... that was so nice to hear. We have had friends come by every week to visit during treatments because they can! Last week I think we left the hospital at 2:45 and were home by 3:00. We now have our Thursdays and Fridays back. Before we were both too tired to do anything. The last 2 Thursday nights we have even attended Concert in the Park and stayed out to 9:30pm. Besides ..transitioning closer to home has been the greatest gift ever for us. I know lots of the boys are doing home infusions but we are just so happy to be in the same town!
Scotty had his quarterly dentist appointment a couple of weeks ago with his wonderful Dentist Dr. El Farra He has been watching one tooth the last year and feels it it time that he needs to do a filling before it starts hurting Scotty so that appointment is this Tuesday. I am still a chicken mom when it comes to these dentist appointments and can't be in the room when they do the work.. Tom, my sister Kelly and even our friend Sherri is always there assisting the whole dental team in holding Scotty and this has just been for the cleanings (and xrays last visit). I don't see myself going in this week but Tom knows when to tell the Dr. that Scotty needs a break and the Dr. is happy to stop just wish us luck for Tuesday! Scotty's physical therapy appointments have been going great now that we are back on a weekly schedule. He has been working on going up and down stairs and he is doing so great!
Well I had better get back to either making dinner or ordering dinner so we can finish up and go watch fireworks.
Thank you all so much for continuing to check up on our Scottyman!
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