Hunter Syndrome Diagnosis Information
Many of the early signs and symptoms of Hunter syndrome are commonly seen in infants and toddlers, so the road to diagnosis often takes time. As a parent and caregiver, it's important to be an advocate for your child. Educating yourself and providing information to your pediatrician can go a long way toward getting a diagnosis more quickly.
The path to diagnosis:
- Symptoms usually appear between 2 to 4 years of age
- Visible signs and symptoms of Hunter syndrome (MPS II) are usually the first clues
- Doctors may use laboratory tests to provide additional evidence that an MPS disorder is present and refer you to a medical geneticist for further testing
- A definitive diagnosis of Hunter syndrome is made by measuring the iduronate-2-sulfatase (I2S) enzyme activity
For more information about Hunter Syndrome, download the
Hunter Syndrome Brochure (en espanol)
OnePathSM Services
OnePathSM is a great resource if you have questions about Hunter syndrome or about navigating through prior authorizations or other insurance related matters. You may contact OnePathSM at 1-866-888-0660 and onepath@shire.com. Case managers are available to answer your call from 8:30am-8:00pm ET.