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RARE DISEASES

Hunter Syndrome

Here you can learn about Hunter syndrome, otherwise known as MPS II, from patients and their families.

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What is Hunter syndrome?

Hunter syndrome is a creator of real life heroes as well as a rare and genetic disorder. It’s a condition that affects little boys progressively and in a number of ways. Transforming the lives of patients, parents and caregivers, it makes them true fighters and survivors.

To give you the medical definition of Hunter syndrome, it’s the body’s failure to break down and recycle something called glycosaminoglycans (GAGs). This means the GAGs build-up over time and harm the body’s cells and organs,1 which can cause a multitude of problems for these young children.

Hunter Syndrome Cells

Are there any signs and symptoms of Hunter syndrome?

There are some obvious physical signs of Hunter syndrome, such as coarse facial features and an enlarged liver and spleen, as well as some less noticeable symptoms.2 Symptoms range from patient to patient but here are the key signs:3

Signs and symptoms of Hunter syndrome

Hunter syndrome is typically diagnosed between the ages of two and four4 so from a very young age children go through severe symptoms, often without their distressed parents knowing why. Desislava, mother to her Hunter syndrome son, Paul, can relate to this and beautifully describes the bravery of all the young children experiencing the symptoms of Hunter syndrome:

“Our children may have small bodies, but their courage is huge. They bear their fate with incredible dignity.”

Desislava's Hunter Syndrome Story

HUNTER

Desislava

How do you diagnose Hunter syndrome and where do you go from there?

A doctor may suspect Hunter syndrome from physical signs, and confirm diagnosis through a series of simple tests.4

Dealing with a positive diagnosis can be an understandably challenging time for all family members. Desislava knows this only too well and shares her feelings from this moment with us:

“At the time Paul was diagnosed, the shock and despair was so strong that it was hard to find the strength to move forward. The only thing that kept me going was that Paul needed me to help him with the difficulties ahead. After the initial shock came feelings of faith and hope.”

Desislava's Hunter Syndrome Story

HUNTER

Desislava

For the wellbeing of patients, their families and caregivers, support is vital. Amazingly, Desislava found the strength to start her own support group for other families affected by MPS. She tells us how talking openly about her fears with people who really understand them is invaluable. We couldn’t agree more. And the more conversation around MPS, the more people will become aware of this rare disease, which will help children get that lifesaving diagnosis.

Related articles

Want to learn more about Hunter syndrome? Please visit:

Huntersyndrome.info

Related articles

Want to learn more about Hunter syndrome? Please visit:

Huntersyndrome.info

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Nothing will stop us from fighting for a decent life for our children and families.

Desislava's Hunter Syndrome Story

HUNTER

Desislava

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