Hunter was born in November 2009 – healthy and with a full head of hair. The days, weeks, and months after progressed normally as he grew from newborn to infant and began the journey to becoming a toddler. Hunter’s development started to slow pace. He’d frequently get colds and ear infections. Another year went by, relatively normal except the slower developmental pace – which happens to some children. In 2012, when Hunter was 2 and half, while evaluating him for surgery to put tubes in his ears the doctor started asking probing questions about his development and urged that he get tested for several types of developmental and genetic diseases. On June 15th 2012, after months of testing it was discovered that Hunter has a mucopolysaccharide disease known as MPS II, or (and ironically) Hunter Syndrome!
MPS II is a very rare genetic disease that affects children, almost all boys. It prevents the continuous process of cells breaking down and removing certain used materials in the cell. This causes progressive damage to cells and causes several symptoms and developmental issues such as ear infections, runny noses, coarseness of facial features – like a prominent forehead, a flattened bridge on the nose, and an enlarged tongue. Joint stiffness in the fingers, thumbs, wrists, elbows, shoulders, hips and knees limiting motion. The disease can also cause mental retardation.
There currently is no known cure for MPS II. Enzyme replacement therapy helps to slow or at best maintain the current state of progression for a limited time. Treatment is typically given weekly for several hours. The disease causes children to regress to the point where constant care is required. Most with MPS II have a drastically shortened lifespan.
Hunter started enzyme replacement therapy in September 2012. He travels from his home in West Virginia to the Pittsburgh Children’s Hospital with both of his parents. It’s a 2 hour journey each way.
His parents try to keep his life as normal as possible. Hunter started school in December 2012. On weekends they always find fun and exciting things to do together as a family.
In July 2013 Hunter started to receive his weekly enzyme infusions at home.
Hunter turned four in November 2013. He continues to thrive, showing no signs of regressing however age four is usually the age where many boys will start to regress. Every day we hope that the disease does not take over and the trial that can save his life starts soon. Phase 3 of the trial is still on hold however the FDA approved expanding the current trial to included 9 more boys. Instead of an intrathecal port the medicine will be admistrated by lumbar puncture. The nine boys that will be selected are those that are at risk of falling below the cognitive criteria. Whether Hunter will be asked to screened for the trial is still unknown.
This site will capture Hunter’s journey. We thank you for your interest in Hunter. Visit this site often for updates and information on what you can do to help.