MEET DOMINIC

I am 16 years old and live in Prosper, Texas.  Like most teens, I enjoy playing on my iPad and playing video games. I also love listening to music and dancing. When I was 22 months old, I was diagnosed with a rare genetic progressive disorder called Hunter syndrome or Mucopolysaccharidosis Type II (MPS II). This is a rare condition affecting 1 in 150,000 males and there are only about 2,500 patients world-wide. 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. Hunter syndrome can cause significant delays in all areas of development. For example, 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 have frequent upper respiratory and ear infections, so one day I might need machines and oxygen to help me breathe. I am hard of hearing and one day I might not be able to hear the music that I love so much. My liver and spleen 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 need a 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 TV, play on my iPad and eat snacks. The cost per year for each person receiving the Elaprase IV treatment alone is about $500,000. Yes, this is not a typo – the cost is about half a million dollars per year only for the medication!! This does not include any other medical visits and I see about 10 doctors annually. The Elaprase IV treatment is helping but the medicine does not cross into the brain so my cognitive skills are still affected.   

In 2014, I was accepted into a clinical trial where clinicians are delivering an investigational version of Elaprase 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 tries to make our “home-tel” visits somewhat fun. I enjoy the travel and sometimes get to visit with other boys like me, but I dislike the doctor’s visits and over the years have developed a lot of medical trauma.

As of January 2025, we continue to travel monthly to get the medication to my brain. The treatment has helped slow down the progression of the disease and maintain some skills. I am very blessed to be able to get this treatment; however, brain damage is not reversible and I am 1 of only about 60 boys in the world who are getting this treatment. Without new treatments, HUNTER SYNDROME REMAINS A TERMINAL ILLNESS. As of January 2026, there are three other drugs in late stage phases of clinical trials. Medical experts feel that these medications can slow down the progression of the brain disease. We hope that these treatments become available in our community in the near future.  

Everyday my family prays that a cure will be found and maybe one day Hunter Syndrome will be something kids can read about in their history books. But now, Hunter syndrome is a reality of life. My goal is to raise awareness about Hunter syndrome and other MPS diseases, and fund medical research so that kids like me can grow up. For my 4th birthday, my mother gave me a special and unique gift.  She founded 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. In 2022, my mom also joined the Board of Directors for Project Alive, a Hunter syndrome advocacy organization. 

Please consider donating to either organization. Your support will help RAISE AWARENESS AND FIND TREATMENTS FOR HUNTER SYNDROME.

Thank you for reading my story!