Local Resident Shares Rare Disease Story and Promotes Awareness for International MPS Awareness Day on May 15
May 15 is International MPS Awareness Day, a day dedicated to elevating public understanding of mucopolysaccharidoses (MPS) and mucolipidosis (ML) 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 would not seem like one missing enzyme would have much impact, but it does. These enzymes are responsible for breaking down long chains of waste molecules in everyone’s cells. Instead of getting recycled, the molecules start to build up in each individual cell. It would be like never taking the garbage out in a cell.
Wayne Eppehimer, a resident of Jamestown, NY 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 he was not properly diagnosed until after his 24th birthday. At that time, his older sister noticed her son was exhibiting characteristics similar to what she had seen in her brother as a child. The Shriner’s hospital in Erie, PA had provided Eppehimer with a probable diagnosis of Hunter Syndrome (MPS II) as a teenager. Knowing this, his sister sought clinical testing for her son and brother. The results came back positive for MPS II for both of them.
The National MPS Society supports families and individuals diagnosed with eleven different types of storage diseases, varying types of MPS and ML. In each type of MPS, a different enzyme is lacking. Because these are cell storage diseases (also known as a Lysosomal Storage Disorder or LSD) every organ and part of the body is affected, including the heart, bones, joints, respiratory system and central nervous system, leading to a shortened lifespan. Approximately 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, approximately 35 babies are born with MPS II in our country each year. It is estimated there are less than 500 people living with MPS II today.
There were no treatments for MPS II until 2006 at which time an 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 given intravenously. The synthetic enzyme travels through the blood stream and enters cells to help break down the waste molecule build up. This drug is a wonderful breakthrough developed by years of research and FDA trials. Eppehimer has already surpassed the normal life expectancy for MPS II by almost ten years. It is not a cure however because it is only a temporary source given once a week for a few hours. It helps to slow the tide of future damage, but is unable to reverse the damage already done.
International MPS Awareness Day seeks to raise awareness of this family of diseases so rare, most doctors tell Eppehimer: “They taught us about this disease in medical school, but I never expected to meet anyone with it.” Raising awareness is important for many reasons. It helps to get funding for further research as science looks to develop treatments for all syndrome types and eventual cures for the disorders. It brings awareness to the National MPS Society which works hard not only to fund research, but to get newborn screening approved in all 50 states for those types which have ERT available. The sooner enzyme replacement can be started, the more the damage can be stemmed.
To help raise awareness locally, and to help fund further research, Pearl City Popcorn is hosting Purple Bag Sales during the month of May. Their Signature Caramel corn will be available in purple bags, the National MPS Society’s color. 100 per cent of the profits from these sales will benefit the National MPS Society. Pearl City Popcorn is owned by Eppehimer and his wife Joan and is available at the BioDome Project and the Country Woods Store.
For more information on MPS and ML visit mpssociety.org. For more information on the popcorn sales visit Pearl City Popcorn on Facebook.