Despite inroads made by the Affordable Care Act to improve prospects for people struggling with rare diseases, patient advocates say much work remains.
Better diagnosis and affordability top the list.
"It's a really good starting point, but there are so many issues we still need to tackle," Julie Raskin, co-chair of NJ Rare, an advocacy network for New Jersey's rare disease population, said at a panel Wednesday at Forsgate Country Club in Monroe Township.
The panel was organized by the Health Care Institute of New Jersey to brainstorm solutions for patients with rare disease, generally defined as disorders afflicting 200,000 or less people. There are about 7,000 such diseases, mostly genetic disorders.
Raskin said the ACA requirement that insurers cover people regardless of pre-existing conditions, removal of the lifetime cap on health insurance expenses and Medicaid expansion are all big steps.
But panelists, including doctors, patient advocates and government and life science industry representatives, said diagnosis of rare diseases still lag while affordability problems persist.
Because rare diseases require special care, advocates say patients need access to more expansive networks that go beyond a single state's borders. But Raskin said many people ineligible for government subsidies can't afford "platinum" and "gold" level plans that provide broader access. She would like to see the ACA make specific provisions for the rare disease population.
"My vision is people with rare disease should be coded," said Raskin, also the executive director of Congenital Hyperinsulinism International.
Then there are reimbursement questions.
Jayne Gershkowitz, a vice president with the Cranbury-based Amicus Therapeutics, noted that because many rare diseases lack treatments, patients rely on doctors to prescribe other medications off-label to manage symptoms. That is common with Tay-sachs, a nervous system disease, she said.
Gershkowitz said reimbursements pose a problem as people get shifted from one insurance plan to another under the ACA. To avoid such uncertainty, advocates hope to see more a comprehensive array of drugs covered.
Dr. Tanya Pagan Raggio-Ashley, a medical officer with the U.S. Department of Health and Human Services, called the ACA a "living law" subject to ongoing modification.
"It has to keep being revisited," she said. "That's a very important component."
Plus, diagnosis of rare diseases can take years. Dr. Swati Sather, a neurology specialist at St. Joseph's Medical Center, said Pompe disease, an often fatal disorder that disables heart and skeletal muscles, takes eight years on average to diagnose among adults.
The federal government provides incentives for companies to develop drugs — called orphan drugs — including tax breaks and grant eligibility to encourage breakthroughs on rare diseases.