For Consumers

Helping Rare Disease Patients Find Their Voice

Stephen P. Spielberg, M.D., Ph.D., FDA’s deputy commissioner for medical products and tobacco, talks about lessons learned from the study of rare diseases.

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Patients often need advocates, and that can be especially true for people with a rare disease, who have unique problems and may have little or no support or available treatment.

To help them become advocates for themselves and others with their disease, the Food and Drug Administration (FDA) is sponsoring its first “FDA Rare Disease Patient Advocacy Day” on March 1, 2012.

This event at FDA headquarters in Silver Spring, Md., commemorates the fifth annual Rare Disease Day, a global campaign to raise awareness of the more than 250 million people worldwide who suffer from rare diseases. Some of these diseases have familiar names—such as cystic fibrosis and Lou Gehrig’s disease—but there are thousands of others whose name is only known to those affected by them. 

The Patient Advocacy Day sessions—some of which will also be webcast—are partially designed to increase awareness within the rare disease community of FDA’s roles and responsibilities in the development of medical products for the diagnosis, prevention, and/or treatment of rare diseases or conditions. (Click here disclaimer icon for the registration form.)

Gayatri R. Rao, M.D., J.D., acting director of FDA’s Office of Orphan Products Development, says that in addition to educating the rare disease community about how the FDA works, Patient Advocacy Day is designed to help patients and caregivers find out how to become advocates for advances in treatments.

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Helping Rare Disease Patients Find Their Voice - (JPG)

Getting Involved

FDA’s Patient Representative Program enrolls patients and family members affected by serious or life-threatening diseases in its advisory committees that review products or therapies related to such conditions.

“Being part of the solution is the best medicine I can think of,” says Sharon Shaw of Arizona, who suffers from Kearns Sayre Syndrome, a rare disease that has weakened her muscles and affected her organs. Shaw has been active in the United Mitochondrial Disease Foundation. “It’s an incredible feeling of empowerment because we can do something,” she says.

“Patient representatives are in a unique position to ensure that the patient’s perspective is heard,” says John P. Burke III, a policy advisor at FDA and former patient representative. “Advocates bring both personal and practical experience to the table.”

“Patients are the intended users of whatever products and devices are developed and they should have a voice,” says Eugene J. Kazmierczak of Arizona, a patient representative who has suffered from multiple forms of cancer. 

“Patient advocates can be a bridge between the patient community and the scientific community,” says Peg Ford of California, an advocate who has been free of ovarian cancer for five years.

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Rare Disease Day 2012

The theme of Rare Disease Day 2012—which takes place this year on Feb. 29, a day before FDA’s Patient Advocacy Day—is solidarity. The message is that people active in the field of rare diseases can all benefit by working together.

About 7,000 known rare diseases have been identified around the world. It is estimated that about 80 percent of rare diseases are genetic and about half of all rare diseases affect children.

Rare diseases are defined differently around the globe. In the United States, a disease is rare if it affects fewer than 200,000 people. About 30 million Americans are afflicted with rare diseases.

FDA is in a unique position to help those who suffer from rare diseases. The agency’s rare disease initiatives include the following:

  • FDA’s Office of Orphan Products Development gives grants to further the development of drugs, biologics (such as vaccines or blood products), medical devices, and medical foods for the treatment of rare diseases.
  • FDA plays an important role in granting orphan designations and marketing approvals for drugs, biologics, and medical devices to treat rare diseases. Orphan designation encourages companies to develop a product by giving them financial and other incentives. 
  • FDA’s Office of New Drugs within the Center for Drug Evaluation and Research established the Rare Diseases Program to assist and support the research, development, regulation, and approval of drug and biologic products for the treatment of rare diseases.
  • FDA collaborates with international regulatory agencies to address the unmet medical needs of patients with rare diseases globally.

“It’s important to get involved, especially if you have a rare disease,” says Kathy Page of Missouri, whose husband has chronic inflammatory polyneuropathy, which makes walking difficult. “You get a little bit of control back, especially when you thought you had no control at all.”

This article appears on FDA's Consumer Update page, which features the latest on all FDA-regulated products.

February 27, 2011

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