I am 13 years old and live in Prosper, Texas. Like most boys, I love running around; playing with planes, cars, trains and legos. I also love listening to music and dancing. My mommy says that I will probably be a musician someday. However, all that could change. When I was 22 months old, 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 are already stiff and could become stiffer, 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. I am hearing impaired and one day 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, there is an approved treatment that consists of a weekly 4 hour IV infusion of a medication called Elaprase, which is essentially a man-made version of the enzyme that I’m missing. I will need WEEKLY 4-HOUR INFUSIONS FOR THE REST OF MY LIFE. One day per week, instead of playing with my friends or going to school, I am connected to an IV for about 4 hours. It’s a long time to remain relatively still so I watch DVDs, play on my iPad, eat snacks and nap. The treatment is helping but the medicine does not cross into the brain so my cognitive skills could decline significantly within the next few years.
In 2014, I was accepted into a CLINICAL TRIAL where the researchers are delivering an investigational MEDICATION TO THE BRAIN. I was randomized into a control group so was not able to start the treatment immediately. In late 2015, I had a complicated surgery to implant a device (called a port) on the right side of my abdomen. The port has a catheter that is inserted into the spine. Through this device I was able to get the first dose of medicine to my brain in November 2015. As part of the investigational treatment, I have to travel out of state, hundreds of miles every month. My mom usually travels with me and we are home 3 weeks and then back at the “home-tel” for 1 week EVERY MONTH. I enjoy the travel but dislike the doctor’s visits. Mom tries to make every stay fun and we often visit with other boys that are also in the trial.
I am very blessed to be part of this clinical trial and the treatment has helped maintain my skills and continue to learn. However, I am only 1 of only 60 boys in the world who were accepted into the trial. This probably represents only about 2% of the boys world-wide that affected by this condition. Without a new treatment, HUNTER SYNDROME REMAINS A TERMINAL ILLNESS. Everyday my family prays that a cure will be found and maybe one day Hunter Syndrome will be something my grandkids can read about in their history books. But now, Hunter Syndrome is a reality of life. By the way, did I mention that 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. For my 4th birthday, my mother gave me a special and unique gift. She started the Hunter Syndrome Foundation, a 501(c)3 non-profit corporation with a mission to fund potential therapies that will ultimately find a cure for this disorder. Please consider making a tax deductible donation here http://huntersyndromefoundation.org/donate. Your support will help FIND A CURE FOR HUNTER SYNDROME.
Thank you for reading my story!