Together Saving Dany

Finding and Funding a Cure for Hunter Syndrome

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Our Mission

Help us give our boys with Hunter Syndrome a chance to live.

Supported by the help from real people, just like you.

Facts About Hunter Syndrome

Hunter Syndrome is one of several hereditary metabolic conditions known collectively as lysosomal storage disorders. These are genetically distinct diseases that result from a deficiency of a particular enzyme.

  • Hunter syndrome, also known as mucopolysaccharidosis II or MPS II, is caused by an inherited deficiency in the enzyme iduronate-2-sulfatase (or I2S). Lack of this enzyme affects the body’s ability to break down and recycle cellular waste.
  • Hunter syndrome affects approximately 1 in every 155,000 people.
  • It primarily affects boys, because it is as an X chromosome-linked recessive disease, Boys have only 1 copy of the X chromosome, while girls have 2 copies. Women can carry one defective Hunter syndrome gene and pass it on without being affected themselves.
  • Symptoms are usually not prominent at birth, but as individuals affected with Hunter syndrome grow older, physical manifestations become more apparent.
  • Because Hunter syndrome is rare and its symptoms are common in children — frequent ear infections, chronic runny nose, hernias — it’s often misdiagnosed. People often receive diagnosis after the onset of more serious symptoms, such as cardiac and respiratory problems.
  • Getting an early diagnosis is important: treatment can head-off the progression of the Hunter syndrome. Current treatment is an enzyme replacement therapy ( ELAPRASE ).
  • Hunter syndrome resources: The National MPS Society, National Organization for Rare Disorders (NORD), Hunter Syndrome Patient Community

About Hunter Syndrome

Hunter syndrome is one type of a group of inherited metabolic disorders called mucopolysaccharidosis (MPS), and Hunter syndrome is referred to as MPS II. Hunter syndrome symptoms vary from person to person. Some people have mild symptoms, while others have severe problems. Symptoms aren't present at birth. If symptoms begin early — around ages 2 to 4 — the syndrome is usually more severe.

Signs and Symptoms May Include:

  • Delayed development, such as late walking or talking

  • Changing facial features, including thickening of the lips, tongue and nostrils

  • A broad nose and flared nostrils

  • Claw-like hands

  • A protruding tongue

  • Abnormal bone size or shape and other skeletal irregularities

  • Enlarged internal organs, such as the liver and spleen, resulting in a distended abdomen

  • Respiratory difficulties including sleep apnea, a condition in which breathing intermittently stops during sleep

  • Cardiovascular disorders, such as progressive thickening of heart valves, high blood pressure (hypertension)

  • heobstruction of blood vessels

  • Vision damage or loss from degeneration of cells that capture light and buildup of cellular debris in the brain causing pressure on the optic nerve and eye

  • Progressive loss of hearing

  • Aggressive behavior

  • Stunted growth

  • Joint stiffness

  • Diarrhea

  • Carpal tunnel syndrome

  • Sleep apnea