About MPS II
MPS II (Hunter Syndrome) is a Lysosomal Storage Disease (LSD) that  inhibits the body's ability to break down and recycle specific mucopolysaccharides (mew-ko-pol-ee-sak-ah- rides). It is part of a larger group of conditions called Mucopolysaccharidosis (MPS), of which there are multiple variations and a whole spectrum of severities.
 
Lysosomal Storage Diseases
There are 49 genetic Lysosomal Storage Diseases - or conditions that are characterized by a deficiency of one or more of the lysosomal enzymes that the body requires to digest material inside the lysosome.  This deficiency results in a build up of undigested material inside the lysosome, which leads to cell degeneration, causing macromolecules in various organs and tissues in the body.  In time, and the time varies depending on the severity of the case, this leads to decreased function in the affected areas, progressive deterioration in the physical and/or mental capacity of the individual, and eventual death.
 
For more information on LSDs, visit http://www.ntsad.org/S02/S02storage_diseases.htm
 
The Science
MPS II is caused by a missing enzyme called iduronate sulfatase (I2S). The lysosomal enzyme I2S is critical in the breakdown of two specific mucopolysaccharides:  dermatan sulfate and heparan sulfate.  Mucopolysaccharides are the result of the body breaking down and replacing proteoglycans, which exist in the connective tissues throughout the body.  When the body of a person with MPS II breaks down proteoglycans, it is not able to recycle dermatan sulfate and heparan sulfate, resulting in a accumulation of these mucopolysaccharides in the body.  These particular mucopolysaccharides are most prevalent in a person’s skin, blood vessels, heart, heart valves, lungs, arteries and cell surfaces.  MPS II is progressive, because as the build up continues over time, it interferes with certain cells and organs ability to function.
 
And in English
MPS II is characterized by the build up of certain enzymes in the body which interfere with cells and organs ability to function.  A child with MPS will appear healthy at birth.  The symptoms will become evident as the buildup occurs, and will worsen overtime, as it continues.  
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Envisioning a hopeful future for families with MPShttp://www.treypurcell.commailto:dcehak@telus.netshapeimage_2_link_0shapeimage_2_link_1
No there isn’t a cure. But there is treatment.  On June 14, 2007, Health Canada approved an enzyme replacement therapy (ERT) called Elaprase, developed by Shire Human Genetic Therapies.  A number of kids worldwide have been on a trial of Elaprase with remarkable results.  Elaprase drastically reduces many of the effects of MPS II.  It is not clear, however, how much Elaprase helps the Central Nervous System and because of this, people with MPS, regardless of ERT, often need surgery to relieve the pressure on theirs spines and may continue to have brain involvement.
 
Although Elaprase has been approved in Canada and Trey is receiving the treatment (Trey was granted Special Access to use Elaprase through Health Canada’s Special Access Program before Health Canada’a approval: http://www.hc-sc.gc.ca/dhp-mps/acces/drugs-drogues/index_e.html), many other children with Hunter Syndrome in Canada have not been so fortunate. Although we are thrilled that Health Canada has approved Elaprase, this only means that is it available and approved for use in Canada. Funding is decided on a Province to Province basis and many provinces are not supportive of funding expensive drugs for rare diseases. This is why Canada needs an Orphan Drug Policy so that lifesaving treatments can be granted to individuals with rare diseases as soon as they become available. For more information on efforts to create an Orphan Drug Policy, go to: http://www.raredisorders.ca.
 
Meanwhile, researchers continue to work on a cure.  Their work is dependent in large part on private funding, which often takes the form of fundraising and donations. To read about the research we are funding, click here.
 
Yes, it is genetic.  MPS II is the result of a gene mutation to the I2S gene.  In most cases, this mutation is genetically determined.  However, it is also possible that the mutation occurs during egg and sperm formation (which is what happened to make me a carrier...no one else in my family is a carrier).  In this rare instance, the mutation is not genetic and the chance of the mutation occurring in subsequent generations is low.
 
Although there have been rare instances where females develop MPS II, generally MPS II only occurs in males.  This is because the I2S gene is located on the X  chromosome.  Men have one X and one Y chromosome, so a mutated I2S gene causes MPS II.  Women, on the other hand, have two X chromosomes.  Women are therefore carriers, but very rarely develop MPS II.
 
When MPS II occurs genetically, any daughter born to a woman that is a carrier will have a 50% chance of also being a carrier.  Any son born to a carrier mom will have a 50% chance of developing Hunter’s Syndrome.  Any daughter born to a man with MPS II will be a carrier.  No son born to a man with MPS II will be affected.
 
 
                                         source hunterspatients.com (http://www.hunterpatients.com/about/what/)
 
 
 What is MPSII?  How does MPS II affect a person?  Is MPS II genetic?  Is there a cure for MPS II? About Trey Events & Donations Mama’s Blog Links Back to Home
At birth, there are no signs or symptoms of MPS II.  As the build up of enzymes occurs in the body (usually after the first year of life), the following Symptoms become evident:
 
 
 
 
 
 
 
 
 
The early symptoms are all common in “healthy” children, and to many physicians who are not familiar with the MPS II, seem unrelated.  However, as the child ages and the severity of the symptoms increases, a specialist (in our case Dr. Sylvia Stockler) orders testing which allows the diagnosis to be made.
 
 
 
 
 
 
 
 
 
 
 
 
There is no “date” for the onset of signs and symptoms.  As the GAGs build up in the body, the symptoms gain in fortitude and become more serious.  In Trey’s case, he has all of the typical features of MPS II, and because of his speech delay, one doctor gave him an initial diagnose of severe MPS II.  However, since that time it has been determined that Trey is too young to determine conclusively the severity of his case.
 
 
 
 
 
 
 
 
 
 
 
 
 
 
Without treatment, MPS II is a terminal illness that shortens the child’s life span considerably.  Without treatment, we would all be fortunate to see Trey’s 20th birthday. However, now that Trey has been granted Elaprase, we have been given new hope.
Early Signs & Symptoms:
  1.     Frequent Colds
  2.     Umbilical or inguinal Hernias (Herniated Belly Button)
  3.     Chronic Ear Infections
  4.     Large Head
The Progression of Signs & Symptoms:
  1.     Coarse Facial Features
  2.     Enlarged Abdomen (due to enlarged organs)
  3.     Abnormal Skeleton and stunted growth
  4.     Progressive stiffness of joints
  5.     Developmental delays, varying in severity
  6.     Loss of hearing
Chronic Signs & Symptoms:
  1.     Obstructive Airway Disease
  2.     Frequent Pneumonia
  3.     Progressive Skeletal Dysplasia (limited movement)
  4.     Cardiac and Valvular Heart Disease
  5.     Progressive Hearing Loss
  6.     Central Nervous System Involvement
Follow the prompts or scroll down to find answers to frequently asked questions about MPS II.  If there’s further information 
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this information accessible - but it is by nature scientific. Thanks for taking the time to understand MPS IImailto:dcehak@telus.netMPS%20Links.htmlshapeimage_12_link_0shapeimage_12_link_1
 What is MPSII?  How does MPS II affect a person?  Is MPS II genetic?  Is there a cure for MPS II?
To hear about MPS II check out this clip from a November 2006 Silk FM Radiothon interview.  The interview helped raise awareness and funds for the BC Children’s Hospital Foundation.
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