Everyone has these GAGs in their cells. They help build bone, cartilage, tendons, corneas, skin, and connective tissue. They are also in the fluid that lubricates our joints.

In a properly functioning body, these GAGs do their work and then are continually broken down by a total of 11 different enzymes. In each of the different types of MPS diseases, one of these enzymes is either insufficiently produced, missing, or produced in a faulty way. The result is that the GAGs are not broken down properly and they collect in the cells, blood, brain, spinal cord, and connective tissues. In other words, the GAGs (“trash”) accumulate in every cell throughout the entire body.

Tuesday is International MPS Awareness Day, a day set aside to promote awareness of these rare diseases. Local resident Wayne Eppehimer was born with MPS type II, also known as Hunter Syndrome. Newborn screening did not exist when he was born and while the disease had been discovered, it was not well known. He spent years going to Shriners clinics in his hometown of Meadville, Pennsylvania because he was knock kneed but never learned the underlying cause. Finally in his teen years, the Shriner’s Hospital in Erie, Pennsylvania admitted him for an extended stay. They ran tests over several months and finally concluded he had Hunter Syndrome. There was no treatment available at the time, so Eppehimer returned home and continued life.

It was not until Eppehimer was in his 50s that medical therapy for his type of MPS became available. It took years of research to identify the specific missing enzyme for Hunter Syndrome, and then more time to develop an artificial enzyme to try and replace it in the body. This therapy, known as Enzyme Replacement Therapy (ERT) is administered through an infusion weekly. Eppehimer has been receiving ERT for nearly 16 years. ERT is not a cure, but it has helped to slow the progression of his disease and undoubtedly added years to his life.

Wayne Eppehimer is pictured at an MPS fundraiser.

ERT and other therapies exist today for about half of the MPS diseases and are part of what the Awareness Day is about. In addition to raising public awareness of these disorders, members of the Society spend time meeting with their state senators and representatives to advocate for things like newborn screening and funding for further research.

The good thing about much of the research that is done for rare conditions is that the findings are transferrable to other conditions. Researchers learn a lot about the human body through their efforts to find treatments and cures. For example, there are FDA trials going on now in MPS patients designed to deliver medications across the blood-brain barrier (a tightly locked layer of cells that regulates what can enter the brain). As researchers learn how to open the barrier to transport medicines across it, conditions such as Alzheimer’s, multiple sclerosis, brain tumors, and depression all stand to benefit.

Aunt Joan’s Pearl City Popcorn, a local company founded by Eppehimer’s wife , Joan, has joined in the effort to promote MPS Awareness Day. To spread awareness in Jamestown, the company adds informative tags and purple bows–the representative color for the MPS Society–to their packaging from April through June. This special promotion is dubbed “Purple Bow Sale.” All of the profits from the Purple Bow Sales are donated to the National MPS Society. On Wednesday, May 15 , Aunt Joan’s will be at Tracy Plaza from 11 a.m. to 1 p.m. selling popcorn in honor of MPS Awareness Day.

In addition, City Hall will be lit in purple and the mayor will issue a proclamation recognizing Tuesday as MPS Awareness Day. Those interested in learning more about these diseases can visit the Society’s website, mpssociety.org. To learn about purchasing Aunt Joan’s popcorn, visit Aunt Joan’s Pearl City Popcorn on Facebook.