Rare diseases to be recognized by Ohio

December 27, 2014

Michael D. Pitman, staff writer

BUTLER COUNTY — 

House Bill 27 is more than just a calendar day bill for Rep. Tim Derickson.

Earlier this month, the bill introduced in February 2013 by the Hanover Twp. Republican was signed by Gov. John Kasich that designates Feb. 28 as “Rare Disease Day” in Ohio. Derickson’s sister Joy Lynn Derickson died in 1972 at age 18 from cystic fibrosis, which today affects about 30,000 people nationwide.

A rare disease is classified as a disease that affects fewer than 200,000 Americans at any given time. According to the National Organization for Rare Disorders, there are between 6,000 to 7,000 types of rare diseases.

Derickson remembers Joy having to sleep in an oxygen tent “because her immune system was very weak,” and she spent a lot of time in the hospital.

“I can speak first-hand of the hardships recognized by the family who are helping a child with a rare disease,” Derickson said.

He hopes the calendar day bill will draw attention to the thousands of rare diseases because they “don’t get the attention.” Rare diseases also don’t get the funding needed, Derickson said.

“The problems are just as great, and even greater because there is not that same level of support,” he said.

Melissa Saladonis, assistant vice president at Cincinnati Children’s Hospital Medical Center, wrote a letter of support for the legislation. She said the hospital received more than $153 million in research dollars in fiscal year 2011 and is the second-highest recipient of National Institute of Health dollars in pediatric research in the country.

“Every day, new discoveries are made and our world-renowned researchers move closer and closer to pediatric cures,” Saladonis wrote.

The bill was initially pushed by Charlene York, one of Derickson’s Oxford constituents who asked about the issue when she saw the lawmaker one day at the grocery store. Her daughter, Anne Vascik, has a rare form of congenital muscular dystrophy that wasn’t diagnosed until she was 16 years old and was at one point dismissed as “growing pains.”

And if it wasn’t for a DNA test available for this rare disease, York said they probably wouldn’t have found out her husband and mother-in-law have that same disease, albeit with fairly mild and unnoticeable symptoms.

“For my daughter, she was born with no problems, but she was still having leg pains,” she said. “It took six months to get a diagnosis after ruling out all of the other stuff. It wasn’t until a genetic test that we found out she has a rare form of muscular dystrophy.”

York said there is often very little research or recognition for many of the rare diseases, and “it’s a struggle for a lot of these patients and families.”

Vascik is now 22 and a graduate student at Ohio State University.