Sunday is International MPS Awareness Day, a day dedicated to improving public understanding of mucopolysaccharidosis and mucolipidosis diseases.
In these rare diseases, the affected person lacks an enzyme in their body. With over 75,000 different enzymes in the human body, it wouldn’t seem like one missing enzyme has much of an impact, but it does. These enzymes are responsible for breaking down long chains of waste molecules in everyone’s cells. Instead of being recycled, the molecules begin to accumulate in each individual cell. It would be like never taking the trash out of a cell.
Wayne Eppehimer, a Jamestown resident and former pastor of the local Christian and Missionary Alliance church, has MPS type II, also known as Hunter syndrome. The disease is so rare that he was not properly diagnosed until after his 24th birthday. At that time, his sister noticed that her son had similar characteristics to what she had seen in her brother when he was a child. The Shriner Hospital in Erie, Pennsylvania had provided Eppehimer with a probable diagnosis of Hunter Syndrome (MPS II) as a teenager. Knowing this, his sister requested clinical tests for her son and brother. Results came back positive for MPS II for both.
The National MPS Society supports families and individuals diagnosed with 11 different types of storage disease, different types of MPS and ML. In each type of MPS, a different enzyme is lacking. Because it is cell storage disease (also known as lysosomal storage disorder or LSD), every organ and part of the body is affected, including the heart, bones, joints, respiratory system and the central nervous system, which reduces lifespan. About 140 babies are born in the United States each year with these diseases. If you narrow it down to Eppehimer’s specific type of MPS, about 35 babies are born with MPS II in the country each year. It is estimated that there are less than 500 people living with MPS II today.
There was no treatment for MPS II until 2006, when enzyme replacement therapy (ERT) was approved by the FDA. Eppehimer has been receiving ERT since July 2008. ERT provides an external source of the deficient enzyme administered intravenously. The synthetic enzyme travels through the bloodstream and enters cells to help break down the buildup of waste molecules. This drug is a wonderful breakthrough developed through years of FDA research and trials. Eppehimer has already exceeded the normal life expectancy of the MPS II by almost ten years. It is not a cure however as it is only a temporary source given once a week for a few hours. It helps slow the wave of future damage, but is unable to reverse damage already done.
Raising awareness helps raise funds for new research as science seeks to develop treatments for all types of syndromes and eventual cures for disorders. He raises awareness for the National MPS Society who are working hard not only to fund research, but also to get newborn screening approved in all 50 states for guys who have an ERT. The sooner enzyme replacement can begin, the more damage can be stemmed.
To help raise local awareness and fund additional research, Pearl City Popcorn is holding purple bag sales during the month of May. The band’s Signature Caramel corn will be available in purple bags, the color of the National MPS Society. All proceeds will benefit the National MPS Society. Pearl City Popcorn is owned by Eppehimer and his wife and is available at the Biodome Project and the Country Woods Store.
For more information about MPS and ML, visit mpssociety.org. For more information on popcorn sales, visit Pearl City Popcorn on Facebook.