To walk in the shoes of others is sometimes what it takes to truly understand their journey. So when I came across the blog, Jason and Justin’s Journey x2 – Don’t Stop Believing, I wanted to learn more about Hunter syndrome.
The blog is written by the parents of two boys who have Hunter syndrome and chronicles their battles with this rare genetic disorder. It also describes how Hunter affects their family life.
In a word, they are devastated.
Hunter syndrome, which is also known as mucopolysaccharidosis II (MPS II), is caused by a missing or malfunctioning enzyme called iduronate-2-sulfatase (I2S). I2S is what helps the body break down mucopolysaccharides, also known as glycosaminoglycans or GAGs, which are then stored in the body’s cells. Missing this enzyme causes symptoms that can be seen as physical manifestations including facial abnormalities and a distended belly. Some patients, but not all, are intellectually impaired and can suffer from hearing loss and cardiac problems. The patient may lose range of motion in their limbs and develop sleep apnea and obstructive airway disease. It’s important to note, however, that Hunter syndrome affects each person differently.
Ultimately, this syndrome is a fatal disease, with a life expectancy of 10 to 15 years.
But with improved treatments, people are living longer, and with a better quality of life. Some people are now living into their 50s and 60s! Personally, I’m hoping the future of gene therapy will include boys like Jason and Justin so they can live without the complications of Hunter.
If you would like to learn more about Hunter syndrome, contact the National MPS Society.
