People with chronic diseases -- think diabetes and cancers -- depend on regular access to medicine to live. This is also true for those with lesser-known conditions that aren't household names.
And people with rare diseases encounter other roadblocks in the quest for access to medical treatments. These drugs take lots of years and money to develop. They're expensive to make. Having an adequate supply covered by health insurance can be a battle.
It's a struggle that Ann Rogers knows well. She had two sons with rare disorders that affect the blood's ability to clot. Her son Dan, who had hemophilia, died in 1992 after contracting the AIDS virus from his medication. She says her youngest son Curt, who has a form of von Willebrand disease, ended up in a coma after a car crash three years ago and had his medicine donated to the hospital because that was the only way it could be paid for.
"If people don't have access to what they need, what kind of society do we have? A sick society, no one going to work, no one going to school?" asks Rogers, executive director of the National Hemophilia Foundation's
Delaware Valley chapter.
That's why she and other Philadelphia-area advocates, including some companies that develop treatments for rare illnesses, are working to ensure that people who have these diseases will be able to get their medicine under the health-care reform bill passed to much fanfare last spring.
In the industry, treatments for rare conditions are referred to as "orphan drugs." The U.S. Food and Drug administration says a disease is rare if fewer than 200,000 Americans have it. A 27-year-old
federal law provides several incentives for drug makers to find treatments for these diseases. These include tax credits and grants for research and testing along with exclusive marketing rights for a drug for seven years. Chris Molineaux, president of
Pennsylvania Bio, says that while scientists don't think about the tax credit, it is an incentive for companies to develop orphan drugs.
As a way to get to get money to expand health coverage to millions of people, the health care package says pharmaceutical companies will be charged billions of dollars, determined by a formula based on sales. However, anything subject to an orphan drug tax credit isn't counted in that formula, according to the Internal Revenue Service
As it is, the tax credit isn't easy to get. The FDA determines what counts as an orphan drug, and less than 10 percent of applications get approved for the designation. Under the health-care overhaul Molineaux says companies that get the tax credit will get a sort of double benefit: They'll receive the tax credit and have to pay a smaller annual fee. That means any firm that develops a rare-disease treatment and doesn't get the tax credit is effectively hit twice.
"It unintentionally creates a disincentive to create these therapies," Molineaux says. "We're trying to get legislators to understand that there's an unintended consequence here."
It's even more difficult to get an orphan-drug designation for a new treatment similar to an existing drug. To receive the designation, the developer of the second drug has to explain in a plausible way that the second drug is somehow better than existing treatments. The FDA's reasoning is that companies shouldn't get extra benefits for developing a treatment that's no better than what already exists.
Advocates say that doesn't make sense because different people need different types of medicine. Hemophilia, for example, can be treated with medicines engineered in a lab or derived from human plasma. Various medicines work with different patients. Even siblings might need different types, Rogers says.
"You could have a therapy that's addressing an unmet need, and you're penalized for developing it," Molineaux says.
CSL Behring, based in King of Prussia, is one drug maker concerned about the potential impact of this provision. It uses human plasma to develop treatments for conditions like hemophilia and alpha-1 antitrypsin deficiency, which refers to a missing protein in the liver and can lead to serious lung and liver disease.
"We're talking about a very small number of products, but huge impact," says Dennis Jackman, the company's senior VP of public affairs. "In the end, what if we go through all this research and development and the patients can't access it?"
That being said, orphan-drug advocates see plenty of good in the
health care reform package.
For one thing, in 2014 insurance companies will no longer be able to deny coverage to people with pre-existing health conditions (they've been required to cover kids with pre-existing conditions since September). Also in 2014, insurers won't be able to limit the amount of coverage a patient can get in a year. Lifetime limits on health coverage have been prohibited since September.
Overall the reforms ensure that more people have access to more care than before, a source of relief for people with rare and serious diseases. But Jackman says their access to a continually evolving set of treatments must also be guaranteed.
What the issue boils down to, Rogers says, is that patients and their doctors should make be the ones to decide what treatment to use, and all forms must be available. (Her organization pushed state legislators to pass a
bill that would have given people with bleeding disorders access to more methods of treatment, but it died at the end of the last legislative session.)
As legislative sessions get underway in Washington and Harrisburg, health care reform is sure to be a major discussion point. Molineaux says all involved have to keep one thing in mind:
"The ultimate beneficiary has to be the patient."
REBCCA VANDERMEULEN is a freelance writer who lives near Downingtown. Send feedback here.
PHOTOS:
Dennis Jackman, senior VP of public affairs at CSL Behring
Current "Orphan Drugs" used to treat a rare or serious diseases
Ann Rogers, executive director of the Delaware Valley chapter of the National Hemophilia Foundation
Rogers and Christine Rowe, Fund Development Coordinator.
All photographs by JEFF FUSCO