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Couple lobbied Congress about rare diseases

Charlene York, George Vascik told lawmakers about Bethlem Myopathy, a rare CMD George has.

Staff George Vascik and Charlene York

ENLARGE PHOTO

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By Bethany Bruner, Contributing Writer 10:24 AM Monday, February 7, 2011

OXFORD — Charlene York knows her family is special – rare in fact.

Charlene’s husband, George Vascik, and teenage daughter, Anne, have a rare form of congenital muscular dystrophy known as Bethlem Myopathy. They are two of only 3,000 diagnosed congenital muscular dystrophy patients nationwide.

Bethlem Myopathy is one of 6,000 known rare diseases, which often don’t get the funding or research of more common aliments. Charlene and George are working to bring more awareness to rare diseases. They visited state and national policymakers in Washington, D.C., last week, just ahead of Rare Disease Day Feb. 28.

“Many people can’t advocate for the disease,” George said. “I need to be a voice for these children with this disease.”

George discovered two years ago he’d been living with CMD. It was Anne who was diagnosed first. After dealing with pains as a child, she went back to the doctor when the pain became more severe.

Test after test, doctors eliminated possible causes, but were unable to properly diagnose Anne until, finally, they performed a Collagen VI test on Anne’s DNA.

“It’s like looking through the whole shelf listing for the Library of Congress and finding that one book that’s out of place,” Charlene said.

The relief of finding a diagnose was soon followed by a surprise.

“The doctor turned to us and asked which one of her parents had the disease,” Charlene said. “It’s a genetically inherited disease, so we both had to get tested.”

Through more tests, doctors found George had Bethlem Myopathy, and the family discovered his mother, sister and two nieces had the disease, as well. Currently, there is no treatment for Bethlem Myopathy or other CMDs.

Bethlem Myopathy can manifest itself differently in each patient, which makes it difficult to diagnose. It’s one of eight types of CMD.

Though they deal with pain and other symptoms, the Vasciks are not hindered by the disease.

George teaches history at the Miami University Hamilton and Anne attends The Ohio State University.

While in the nation’s capital, Charlene and George planned to speak with staffers from Speaker of the House John Boehner’s office, as well as Rep. Bob Latta, from Toledo, and both Ohio senators.

Charlene, who works for an organization called Cure CMD that seeks federal grants to fund research, said spreading the word about rare disease is important for funding.

Charlene said she hopes advocating for rare diseases will help find a cure for CMD.

“I have a husband with this, I have a daughter with this,” she said. “ I can’t sit and go boo-hoo. I take my grief and turn it into greatness.”