MPS II IN CANADA

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AN ONLINE RESOURCE FOR HUNTER SYNDROME PATIENTS AND THEIR FAMILIES
What is Hunter Syndrome?
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What is Hunter Syndrome?

Hunter Syndrome is a rare and debilitating genetic disorder. It is a form of Mucopolysaccharidosis (MPS II) and is characterized by significant bone and joint disease, as well as numerous other symptoms throughout the body.

Patients suffering from Hunter Syndrome lack an enzyme in their blood that breaks down cellular waste in the body. This waste builds up and stores in the bones, tissues, organs, and muscles, and leads to some of the symptoms described below.

Treatments for Hunter Syndrome are available and there is much Hope on the horizon. Currently, an enzyme replacement therapy exists to help slow down the disease in the body, and a clinical trial is underway for a treatment to help battle the disease in the brain (only some patients are impacted by cognitive disease). In addition, there are promising gene therapy projects underway that are showing significant and promising results in the lab setting. It is hoped that these treatments will enter the clinical trial stage soon.

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HUNTER SYNDROME QUICK STATS

40

Estimated Hunter Syndrome Cases in Canada

1

Approved and Reimbursed Therapy in Canada

2

Next Generation Therapies Readying For Clinical Trial

300000

Research Grant Dollars Awarded By The MPS II Fund Over Past 36 Months 

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What Causes Hunter Syndrome?

Hunter Syndrome is an inherited genetic disorder caused by a deficiency of an enzyme called iduronate-2-sulfatase or I2S. Deficiency of this enzyme causes cellular waste to build up in the body and progressively store in the bones, tissues, organs, and muscles. Hunter Syndrome is estimated to occur in 1 in 130,000 live births, with 50 estimated cases in Canada and 2000 worldwide.

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Genetic Condition Caused By Enzyme Deficiency

Missing or deficient enzyme (iduronate-2-sulfatase – I2S) causes cellular waste from the cells to store in the bones, tissues, organs, and muscles.  This disease is characterized as a lysosomal storage disorder.

Lysosomal Storage Leads To Progressive Symptoms

Virtually all bones, muscles, organs, and tissues in the body are affected by I2S deficiency, leading to progressive, multi-systemic and debilitating symptoms.

Treatment IS Available

The FDA, the European Commission, and Health Canada have all approved a treatment for Hunter  Syndrome.  Developed by Shire Pharmaceuticals, this enzyme replacement therapy (ERT) delivers a synthetic version of the I2S enzyme into the bloodstream and helps to dramatically slow down the disease.

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Symptoms of Hunter Syndrome

There are many symptoms and associated consequences for patients suffering from Hunter Syndrome. Until recently, management of symptoms was the only course of care for patients. In 2007, the first ever treatment for Hunter Syndrome was approved by the FDA, the European Commission, and Health Canada. More information on this treatment and emerging new treatments can be found in our TREATMENT section.

Heart and Airway Disease

People suffering from Hunter Syndrome can develop respiratory failure, severe sleep apnea, and upper airway collapse.  Affected individuals may also develop numerous and recurrent respiratory infections and a thickening of the heart valves.

Skeletal Symptoms

People with Hunter Syndrome may have a wide range of skeletal symptoms.  These can include shortened stature, bone deformities, carpel tunnel syndrome, and multiplex dysplasia.

Hearing Loss

Usually common in the second decade of life, hearing loss can be progressive and severe.

Eye and Vision Issues

While common in many other forms of MPS, it is rare for people with Hunter Syndrome to develop corneal clouding and a debilitating decrease in vision. Night vision can also become an issue for MPS II patients.

Brain and Cognitive Impairment

People with Hunter Syndrome may experience cognitive decline, though it will be difficult to diagnose this impairment until age 4-6.  Patients may also suffer from hydrocephalus.

Specialist Care

Patients battling Hunter Syndrome often visit numerous specialists to help manage their disease.  These can include, but aren’t limited to, MPS Genetics Specialists, Neurologists, Ophthalmologists, Orthopaedic Specialists, Cardiologists, ENTs, Pulmonologists,  and Rheumatologists.  

Surgical Interventions

In almost all cases of Hunter Syndrome, patients need multiple surgical procedures.  These may include skeletal corrections, heart valve replacements, and other procedures.

Decreased Endurance

Studies have shown that endurance of affected individuals is impacted greatly due to the progression of the disease.  Endurance has an impact on all facets of life.  Recent clinical trials have shown a significant increase in endurance for all patients receiving enzyme replacement therapy.

 

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Treatment with Elaprase for Hunter Syndrome

Hope for Hunter Syndrome Patients and Their Families

In 2006, the first ever treatment for Hunter Syndrome was approved in the US, European Union, and Canada.  Elaprase, created by Shire Pharmaceuticals, is a synthetic version of the I2S enzyme that patients are lacking in their blood.  This enzyme replacement therapy (ERT) was passed through the approval process in both the US and Canada because of the tremendous unmet need the treatment provided patients.

Clinical trial results were very promising, with patients seeing a sizeable increase in endurance, an excellent indicator for how well the treatment works.  Endurance measures how well a patient’s body is performing.  From heart to bones to pulmonary function, increased endurance indicates that those systems are working better.  Treatment with Elaprase has given new Hope for families dealing with Hunter Syndrome, and has dramatically altered the course of the disease over the past 10 years.

Jump To Shire’s Elaprase Information Page
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The condition was considered terminal and no treatment existed…Then hope came in the form of Enzyme Replacement Therapy.

Deb Purcell – Mother of a child with Hunter Syndrome and founder of the MPS II Fund in Canada

 

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Emerging and Exciting New Treatments

While ERT with Elaprase has dramatically altered the outlook of Hunter Syndrome over the past decade, emerging new treatments will be the future gold-standard of care for patients. Curative solutions are being investigated in the lab setting which include gene therapy projects and gene editing ideas. Clinical trials in humans are set to begin soon and it is hoped these new treatments will finally provide our patients and families with the cure we have all been looking for.

Gene Therapy for MPS II - A Curative Solution?

There are numerous Gene Therapy projects being studied in research labs around the world, with a few promising ones almost ready for clinical trials in humans. These gene therapy approaches to dealing with Hunter Syndrome have been shown to stop and correct the vast majority of symptoms, including cognitive decline, in the lab setting. Contact us directly so we can share any information we have.

Other Innovative Projects

Shire Pharmaceuticals currently has a clinical trial underway that delivers enzyme directly to the brain of patients suffering or at risk of suffering from cognitive decline as a result of the disease.  Phase I/II results have looked impressive and a Phase III trial is currently underway.

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Support for Accessing Treatment in Canada

If you would like assistance obtaining ELAPRASE treatment in Canada, please don’t hesitate to contact us and we will do whatever we can to assist.

We can join you for a meeting with your Member of the Provincial Parliament (MPP) or  Member of the Legislature (MLA) and work closely with them to ensure reimbursement for treatment is forthcoming.  We can also help you connect with other families undertaking the same processes, connect with the drug company that makes ELAPRASE (Shire Pharmaceuticals) on your behalf, and come meet with you in your home province to help support you in any way necessary.

Whatever we can do to help, we’ll be here.

If you would rather connect with us via social media, please find us on the links below:

 

Hunter Syndrome in Canada

 

Prove You're Human 😉

 

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Inspiring Families

family2010The Purcell Family, British Columbia, CANADA

Trey was welcomed into the world at BC Children and Women’s Hospital in Vancouver, BC, Canada, on March 1 of 2004. He was in seemingly good health, but as his 1st year passed, we experienced increasingly frequent visits to health care practitioners for various minor ailments and concerns.

Then, in February of 2006, tests were ordered on Trey’s liver and spleen. So began an arduous series of appointments leading to the eventual diagnosis of MPS Type II.  Since that time, the Purcell family has mobilized and created the largest MPS II Fund in Canada, and have dedicated their time to finding a cure for Trey and other families throughout the world battling Hunter Syndrome.  Read more about this incredible family HERE!

1399264_461188303998321_643406633_oThe Higginson Family, Ontario, CANADA

On Tuesday, July 2, 2013, our little man Jack was diagnosed with an extremely rare genetic disorder.  Hunter Syndrome, or MPS II, is a serious disease that affects only a few dozen children in Canada.

The important thing is that today, Jack is still Jack.  He is an amazing, sweet, highly energetic, boy.  The only reason this disease was caught was due to a thorough physical exam by Jack’s allergy doctor, which found that he had an enlarged liver and spleen.  This led to two weeks of x-rays, ultrasounds, trips to Sick Kids, a DNA test, stress, anxiety and waiting before the diagnosis was made.

Read more from The Higginson family, their quest for a cure, and the incredible work they are doing to support other MPS II families and patients HERE!

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Talk to a Hunter Syndrome Parent

If you would like to talk directly with other parents of Hunter Syndrome patients in Canada, please fill out your information and one or more will contact you as soon as possible.  When things get stressful and tough, sometimes it helps to speak with someone in similar circumstances, fighting the same battle that you are.

At the same time, sometimes it’s just nice to connect! Whatever the reason, if you’d like to talk with a “Hunter Mom or Dad”, we’ll connect you right away.

Prove You're Human 😉

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MPS II Fund

 
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Together, We CAN Make a Difference!

The MPS II Research Fund is administered through The Isaac Foundation and has provided over $300,000 toward research projects over the past 3 years.

Donations to the MPS II Research Fund can be made online by clicking on the logo above, or by mail and phone through the Donations page. For more information on the grants we fund, Click here.

Donate Now!

CONTACT US AND SHARE YOUR STORY!

We want to hear from you! Send us your story so we can share it with the world. Every person and family battling Hunter Syndrome has a unique story to tell - one of bravery, resilience, and perseverance. We'll share all stories online here and on our social media feeds!