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    Hunter Syndrome (MPS II)

    Getting a Diagnosis

    Doctors often have to rule out other medical conditions first. Your doctor may ask:

    • What symptoms have you noticed?
    • When did you first see them?
    • Do they come and go?
    • Does anything make them better? Or worse?
    • Has anyone in your family had Hunter syndrome or another genetic disease?

    If the doctors can't find another explanation for your son's symptoms, they'll test for Hunter syndrome by checking for:

    • High levels of that certain sugar in his urine
    • How active the "missing" protein is in his blood or skin cells
    • The abnormal gene

    After doctors are sure it's Hunter syndrome, it's a good idea to let extended family members know about the gene problem, too.

    If you're a pregnant woman and you know you carry the gene or you already have a child with Hunter syndrome, you can find out whether the baby you're carrying is affected. Talk to your doctor about testing early in your pregnancy.

    Questions for Your Doctor

    • Will his symptoms change over time? If so, how?
    • What treatments are best for him now? Is there a clinical trial that could help?
    • Do these treatments have side effects? What can I do about them?
    • How do we check his progress? Are there new symptoms I should watch for?
    • How often do we need to see you?
    • Are there other specialists we should see?
    • If I have more children, are they likely to have this disease?


    Early treatment may prevent some long-term damage.

    Enzyme replacement therapy (ERT) can help slow the disease for boys with milder Hunter syndrome. It replaces the protein their body doesn't make. ERT can help improve:

    • Walking, climbing stairs, and the ability to keep up in general
    • Movement and stiff joints
    • Breathing
    • Growth
    • Hair and facial features

    ERT is the first treatment for kids whose brains aren't affected. It doesn't slow the disease in the brain.

    Bone marrow and umbilical cord blood transplants. These transplants bring cells into your child's body that can hopefully make the protein he's missing. The new cells come from either a bone marrow donor whose cells match your child's or the stem cells of umbilical cord blood from newborn babies.

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