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 40 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.

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!

OUR ADDRESS

  • 5291 County Rd. 30
    Campbellford, ON
    K0L 1L0
  • (604) 317-3911
  • purcelldeb@gmail.com
  • www.theisaacfoundation.com/MPSII/
  • Charitable Business Number: 80693 0079 RR0001

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