My name is Dominic. I am 2 years old and like most 2- year-old boys, I love running around; playing with cars, trains and other toys that make noise. I also love listening to music and dancing. My mommy says that I will probably be a musician someday. However, all that could change. On October 14, 2011, I was diagnosed with a rare genetic disorder called Hunter Syndrome or Mucopolysaccharidosis Type II (MPS II). This is a rare condition affecting 1 in 150,000 males. THERE IS CURRENTLY NO CURE.
Having Hunter Syndrome means that I am missing a single enzyme which is responsible for breaking down and recycling long sugar chains called GAGs within my cells. Without this enzyme, GAGs are building up in cells throughout my body, causing progressive damage. The doctors say that soon I could be significantly delayed in all areas of development. For example, they say that one day I might no longer speak, sing, eat, play with toys, or dance, and that I might need total assistance to care for myself. My joints could become stiff, making it hard for me to move. I already have frequent upper respiratory and ear infections, so one day I might need machines and oxygen to help me breathe, and I might not be able to hear the music that I love so much. My liver and spleen are currently enlarged, and the doctors say that this disease could also eventually affect my heart. These are just a few examples of how Hunter Syndrome could affect me.
Although there is no cure, in the U.S., the first ever treatment was approved in July 2006. The treatment consists of a weekly 3-4 hour IV infusion of a medication called Elaprase, which is essentially a man-made version of the enzyme that I’m missing. I had my first infusion on November 17, 2011, and will need WEEKLY INFUSIONS FOR THE REST OF MY LIFE. Every Thursday, instead of playing with my friends or going to school, I travel to a hospital about an hour away to get these treatments. We leave our house around 7am and if we are lucky, we return by about 5pm. It’s a long day, but during my treatments, I like to watch Sesame Street DVDs, play on my iPad, eat and nap.
Without a new treatment, HUNTER SYNDROME REMAINS A TERMINAL ILLNESS. Getting the enzyme into my brain is not possible – at least not yet – and my cognitive abilities could decline significantly within the next few years. If I live to see my 15th birthday, I will be one of the very few fortunate ones. Everyday my family prays that a cure will be found and maybe one day Hunter Syndrome will be something my grandkids read in their history books. But now, Hunter Syndrome is a reality of life. The current cost per year for each person receiving the Elaprase treatment alone is about $500,000. Yes, this is not a typo – the cost is about half a million dollars per year!! This does not include doctors’ visits, surgeries or hospital stays.
My goal is to raise awareness about Hunter Syndrome and other MPS diseases, and fund medical research so that my dreams and the dreams of other kids like me can one day come true. Our first fundraiser event, Dancing with Dominic, was on March 24, 2012.