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How is Hunter syndrome diagnosed?


Hunter syndrome can be challenging to diagnose, because of the number of signs and symptoms, many of which overlap with common childhood complaints. This, combined with the rarity of the condition, means that for many children, particularly those with the non-neuronopathic type of Hunter syndrome, it can take years to reach a diagnosis.

The progressive nature of the condition means that early diagnosis is essential, so that disease management can begin as soon as possible.

Diagnostic tests

There are a number of diagnostic tests that may be performed to determine or rule out a diagnosis of Hunter syndrome.

After diagnosis: what next?

It can be distressing to receive a diagnosis of Hunter syndrome. It can also be hard to explain the disease to your child and other members of your family. Support is available and can help you and your family. Visit the Resources page, and read patient and carer stories to find out how the condition affected others.

It is likely that a number of specialist healthcare professionals will be involved in your child’s care to help manage a range of symptoms. It can be overwhelming to deal with this number of specialists, and to

keep track of appointments and the information from each one. The information leaflet Discussing Hunter syndrome with your child’s doctor has space to record this information, and may help prompt questions to ask, so you can make the most of your appointments.

The leaflet After diagnosis: what next? describes the first steps after receiving a diagnosis of Hunter syndrome and includes some stories from people with the condition, explaining how the first few days post-diagnosis affected them.

After diagnosis: what next? describes the first steps after receiving a diagnosis of Hunter syndrome

Carer testimonials

Discussing Hunter syndrome with your child’s doctor is a resource that may help you talk about your child’s symptoms