Headlines

As reported by Newsday, June 18, 2008.

Conn. Lawmakers Looking At Rare Diseases

By Susan Haigh

HARTFORD, Conn. - Connecticut lawmakers are looking for ways to help families grappling with rare diseases, some so uncommon they affect just dozens of people.

The Public Health Committee is planning to create a task force this fall that will come up with proposed legislation for next January's legislative session.

"This is the beginning and not the end of this discussion," said Sen. Mary Ann Handley, D-Manchester, the committee co-chairman. "We need to learn a great deal about this issue because it has been brought to us over and over again."

At a special hearing on Tuesday, genetics experts and a Danbury-based organization that helps people suffering from rare diseases urged legislators to help families struggling with everything from an early and accurate diagnosis to covering the cost of treatment.

Mary Dunkle, vice president for communications at the National Organization of Rare Diseases, spoke about the mother of a 2-year-old who recently contacted the agency seeking help. The child, diagnosed with a rare disease that affects the white blood cells, was prescribed a treatment that costs $3,000 a month.

The mother's insurance won't cover the cost because the drug is "off-label," or outside the scope of the drug's approved use, she said.

"This is becoming a serious problem," Dunkle told the committee.

There are an estimated 6,000 to 7,000 diseases in the U.S. that are considered rare, affecting 200,000 or fewer Americans. Some affect a few hundred while others impact a few dozen.

Besides helping families with insurance coverage, Dunkle said the legislature can enact bills that protect people from genetic discrimination, provide services to families with older, disabled children, cover gaps in reimbursements for medically necessary foods, and make sure there is adequate screenings of newborns for certain diseases, as well as any help the families might need after a diagnosis is determined.

John Fontana, director of the laboratory branch of the state Department of Public Health, said he hopes state lawmakers can help encourage collaboration between his lab and labs at the University of Connecticut and Yale University.

Fontana's staff of 12 screen about 42,000 newborns in Connecticut each year for more than 40 different disorders. When the program began in 1964, it screened for only two.

As advances are made in genetic research, he expects there will be more opportunities for diagnostic testing. He said it makes sense to improve communications between the different labs, come up with a better division of labor and a plan for which diseases to test next.

"To add more testing, we do need more funding," he said. "Right now, we're pretty much up to our eyeballs."

Dr. Robert M. Greenstein, a pediatrician and medical geneticist at the University of Connecticut Health Center, said he hopes the new legislative task force will ultimately lead to partnerships between insurance companies, lawmakers, pharmacists, doctors and health care centers that can design more affordable treatments.