Hunter Syndrome Factsheet
Firefly
There are roughly 2000 worldwide living with Hunter Syndrome.
There are varying degrees of Hunter Syndrome, mild and severe.
People living with (severe) Hunter Syndrome are missing an enzyme.
Others living with (mild) Hunter syndrome the enzyme is damaged or partially there.
That enzyme - is responsible for helping break down certain complex molecules.
When that enzyme is missing or damaged the molecules build up in harmful amounts, eventually causing permanent, progressive damage.This missing enzyme (or lack of enzyme) does so much damage. It affects appearance, mental development, organ function and physical abilities, basically every single part of the body and mind becomes damaged over time.
It is a progressive, terminal/life limiting condition.
There is not a cure.
There is a treatment which slows down the progression of the syndrome.Some children receive a man-made version of the enzyme is infused weekly, this looks to the untrained eye like dialysis. It takes 3-4 hours each week. It eases the symptoms but does not stop it.This is called Enzyme Replacement Therapy--ERT.
Children with the severe form of Hunter Syndrome rarely make it to adulthood.
Currently there are ongoing trials, in layman's terms; they are trying to cross the blood brain barrier using the same drug; the hope is that this will slow down the regressing in the brain. To date, it is successful.
For more information on Hunter Syndrome please visit here.
