Hunter Syndrome (MPS II)
Getting a Diagnosis continued...
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
- 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.
Both of these treatments are high-risk. They're usually used only if other treatments aren't possible. They also haven't been shown to help when the brain is affected.
Research is under way to find effective treatments for boys with severe Hunter syndrome.
Treating the symptoms. Because so many different parts of your child's body can be affected, you'll probably need to see several doctors to help you manage the condition, including:
- Cardiologist: a heart specialist
- Ear, nose, and throat specialist
- Eye doctor
- Lung specialist
- Mental health professional
- Neurologist: works with the brain and nerves
- Speech therapist
Medication or surgery can ease some of the complications. Physical therapy can help with joint and movement issues. And occupational therapy can help you make changes at home and school to make it easier to get around and do things. Medications like melatonin may help with sleep.