The American Porphyria Foundation participates in many advocacy efforts on behalf of our membership. Porphyria is a group of eight rare diseases.  A rare disease in the United States is one that affects fewer than 200,000 people. As anyone who has searched for a diagnosis or suffered from a rare disease knows, it's easy for these illnesses to get lost in the crowd of more common conditions like cancer, heart disease and diabetes.

There is little incentive for healthcare professionals to learn the details of treating a disease when they may see only one or a handful of patients with it throughout their careers. From the drug makers' perspective developing products for a small and unfamiliar market is not terribly attractive. And with so many diseases that affect millions vying for scientific and clinical research money from government and other funders, small diseases like Porphyria can be easily forgotten.

Nearly 30 years ago, the APF took action to make sure that Porphyria, and rare diseases generally, would receive attention in Washington. The APF joined people like Marjorie Guthrie (widow of the great American folk-singer Woody Guthrie, who died in his 40s of Huntington's Disease) and other rare disease advocates to form the National Organization for Rare Disorders (NORD). Actor Jack Klugman helped give the campaign for rare diseases awareness national prominence, featuring the rare disease problem on two episodes of his program Quincy, M.E., and testifying before Congress.

In 1983, President Reagan signed the Orphan Drug Act into law, and the FDA established an Office of Orphan Products Development. The NIH Office of Rare Diseases was established in 1993, so two agencies now share responsibility for ensuring that rare disease research and treatment needs remain on the Federal health care agenda.

“Patient Rights” proposed by the Association of American Physicians and Surgeons:

  1. To seek consultation with the physician(s) of their choice;
  2. To refuse medical treatment even if it is recommended by their physician(s);
  3. To be informed about their medical condition, the risks and benefits of treatment and appropriate alternatives;
  4. To refuse third-party interference in their medical care, and to be confident that their actions in seeking or declining medical care will not result in third-party-imposed penalties for patients or physicians;
  5. To receive full disclosure of their insurance plan in plain language, including:
  6. To contract with their physician(s) on mutually agreeable terms;
  7. To be treated confidentially, with access to their records limited to those involved in their care or designated by the patient;
  8. To use their own resources to purchase the care of their choice.

There are many issues that affect individuals living with Porphyria.  Our federal, state, and local elected leaders have a vested interested in your health and well-being and they want to hear from you. Your individual letters, visits, calls and e-mails are the most effective tool we have to protect civil liberties in the legislative process.

Are you ready to contact your legislator at the federal, state, or local level? Click this link below. The APF can guide you on specific issues related to Porphyria.

Who Are My Legislators?