Hunter Syndrome also known as Mucopolysaccharidosis Type II or MPS2 is a rare genetic disorder caused by the deficiency or malfunction of an enzyme our bodies need to break down molecules called glycosaminoglycans or GAGs. These GAGs are found in each of the cells throughout our entire bodies – in bone, cartilage, skin, connective tissue, as well as in the fluid lubricating our joints.
So, when you have Hunter Syndrome the breakdown process of these GAGs is incomplete, causing partially broken down GAGs to accumulate in the body’s cells and cause progressive damage. The build-up can occur anywhere throughout the body – from the skin to joints, eyes, heart, liver and other organs.
And when that happens, the flow-on effects can be enormous and extremely debilitating.
It’s estimated that around one in 160,000 male births are affected by MPSII, making it an ultra Rare condition.
There is no known cure, however there are a growing number of medical trials which will hopefully one day lead to a cure. I currently receive a weekly dose of Elaprase, a synthetic form of Idursulfase (the name of the missing enzyme). That treatment only helps with the supply of the missing enzyme. It’s not a cure. It can’t repair damage that was done throughout the 40 years of my life prior to the availability of the treatment, nor can it cross the blood brain barrier, so is unable to help with any build-up of GAGs in and around the brain or central nervous system.
There are differing severities of MPSII, depending on how much enzyme the body can produce naturally. I, along with around one third of those diagnosed with MPSII, am at the more attenuated end of the scale because my body produces a small amount of that enzyme, while in more severe cases, none or very little enzyme is produced by the person’s body. Sadly, those with the more severe forms of MPS only have an average life expectancy into their teens.
I am reminded constantly how lucky I am to still be as healthy as I am. The cruel fact is that not many with MPS survive into adulthood. A friend of mine whose son had a more severe form of MPSII wrote to me once and said ‘MPS has no survivors, because MPS has no cure and no mercy. It takes who it wants when it wants, regardless of age, severity, or current condition’.