The Rev. Wayne Eppehimer of Jamestown is pictured receiving his Chairman’s Award during the recent 36th annual Family Conference of the National MPS Society. Submitted photo

NASHVILLE, Tenn. — The Rev. Wayne Eppehimer of Jamestown was recently recognized with the Chairman’s Award in recognition of his time, expertise and contributions to the MPS Society.

One of his contributions was helping to organize the “Purple Bag Sales” of Pearl City Popcorn held in Jamestown in May in conjunction with the International MPS Awareness Day. Eppehimer has the attenuated form of MPS II. He was the pastor of the Jamestown C&MA Church for 30 years.

Eppehimer received his award during the 36th annual Family Conference of the National MPS Society held recently in Nashville, Tenn.

The conference brought together families and those diagnosed with mucopolysaccharidosis (MPS) and mucolipidosis (ML), medical professionals, and pharmaceutical companies from over 33 states and four countries. More than 30 speakers shared their expertise on a wide range of topics related to MPS/ML diseases.

MPS and ML are ultra-rare diseases affecting the lysosomes in the body’s cells. Lysosomes, sometimes dubbed the “cell sweepers,” contain enzymes which break down proteins, carbohydrates, and even old cell parts. Once the substances are disintegrated, the lysosomes sweep them back out of the cells, where they are carried away and the cell is kept nice and tidy. There are approximately 50 different enzymes in the lysosomes, 11 of which break down long sugar chains (carbohydrate molecules). People with MPS and ML either do not produce enough of one of these 11 enzymes, or the enzyme does not work properly. The result is that cellular waste products collect in the lysosomes, causing damage to the cells and the body. The buildup of materials causes MPS conditions to be classified with a larger group of disorders known as lysosomal storage diseases (LSD). This storage issue results in a cascade of problems in the cells, affecting virtually every organ system in the body.

The Family Conference provides a place for families affected by these conditions to come together and learn about treatment options, emerging research, and new opportunities to participate in clinical trials. Parents of affected children and affected adults alike learn not only from the scientific sessions, but also the peer-to-peer breakout sessions. The conference is a chance for participants to meet others on the same journey, encourage each other, and share lessons learned along the way.

Four awards were presented at this year’s conference. The most prestigious award, The Visionary Leadership Award, was given to Dr. Elizabeth Neufeld. Her lifelong passion for exploring MPS disorders – led to the discovery of the genetic mutation that causes MPS I. Dr. Neufeld is a recognized global authority on hereditary lysosomal storage diseases. In addition to her groundbreaking research, she served on the National MPS Society Scientific Advisory Board for over 30 years.

The 2023 Family Conference is being planned for Washington, D.C. so those attending can meet with their congressional representatives and senators. The National MPS Society exists to cure, support and advocate for MPS and ML through funding medical research, providing support programs for families and adult individuals, and through increasing public and professional awareness of the diseases. For more information about MPS, ML, or the conferences, visit mpssociety.org .

Today's breaking news and more in your inbox

Individual health insurance plans, and those part of a small group, are expected to have increases in premiums in ...

The Winifred Crawford Dibert Boys & Girls Club announced its fall programming. Adult Open Swim for adult ...

Today's breaking news and more in your inbox

Copyright © Post Journal | https://www.post-journal.com | PO Box 3386, Jamestown, NY 14702 | 716-487-1111