Rare Disease Day: Patients Face Barriers to Critical Therapies

Congress should act now to ensure patients have access to treatments for rare diseases.

For patients with rare diseases, access to the latest innovations and the best care can make all the difference. Stephanie Bozarth learned this lesson through first-hand experience when her eight-month-old daughter was diagnosed with mucopolysaccharidosis (MPS), a metabolic disease that interferes with bone and muscle growth. Bozarth was told that, by kindergarten, her daughter would not be able to walk. But following treatment by an experienced doctor with intimate knowledge of MPS, her daughter, now in third grade, walks unassisted and even participates in gym class.

“The difference between walking and being bound to a wheelchair is dramatic,” said Bozarth, president of the MPS Foundation. “Because we had access to top care, her situation is completely different than it might otherwise have been.”

Not everyone with rare diseases is so fortunate.

“The major barrier to treatment is often a financial one for patients with rare diseases,” Bozarth said. “Being able to afford treatments and specialists remains a major challenge.” There’s no better day to raise awareness of this issue than on Rare Disease Day, which takes place on the last day of February each year.

Since the treatments are more likely to be life-saving, it’s critical that these patients have access

Direct and indirect costs for rare diseases are associated with a significant economic burden for patients, according to a paper published in Health Policy. In fact, 37 percent of surveyed rare disease patients in the United States said they had borrowed money from family or friends to pay for expenses, according to the Rare Disease Impact Report.

Although the Affordable Care Act (ACA) expanded health insurance coverage for rare disease patients, new obstacles to accessing treatments have emerged. For instance, the use of specialty tiers in prescription coverage has increased, requiring patients to pay more than 30 percent of the costs.

“Specialty tiers target rare disease patients,” Bozarth said. “No one meant for this to happen, but insurers are trying to be vigilant because of rising costs and have made a lot of changes on how they handle those costs.”

From the insurer’s perspective, placing therapies for rare diseases in specialty tiers makes fiscal sense. Only a small portion of their members would use these therapies, and the added costs to them help keep overall costs low.

But from a patient’s perspective, tiering can mean thousands of dollars per month for treatments they can’t afford not to buy. “Since the treatments are more likely to be life-saving, it’s critical that these patients have access,” Bozarth said.

This week, over 200 patient advocates gathered in Washington D.C. for Rare Disease Week to speak out against such discrimination. And on Thursday, the Rare Disease Congressional Caucus held a briefing in which patients with rare diseases shared stories about being denied access to treatments.

A bill designed to eliminate specialty tiering — the Patients’ Access to Treatments Act — gained support in the previous session of Congress but ultimately died. Patients are still anxiously awaiting a replacement bill.

In the meantime, the 21st Century Cures Act has been introduced to put patients first in the clinical trials regulatory process. By modernizing the clinical trials process, especially for rare diseases, the Act aims to help make new treatment options available to patients quicker. Several aspects of the Act apply specifically to rare diseases, such as incentives for the development of novel therapies.

“So many things in the 21st Century Cures bill spoke to me as a parent of a rare disease patient and as an advocate,” Bozarth said. “There is a chance that there will be some positive changes happening for patients.”