Since 1982, the American Porphyria Foundation has been a vocal advocate for the health and healthcare of people struggling with porphyria. We played a major role in getting legislation passed to recognize the needs of rare disease communities, and under the direction of our Scientific Advisory Board, the APF has built a comprehensive library on the eight types of porphyria, their diagnosis and treatment.
We have fostered a network of patients who share information and support, made research grants to support ongoing clinical and scientific study of the porphyrias, and promoted the growth of porphyria patient societies in Europe, Asia and the Americas.
Today, we continue to pursue the mission of disseminating accurate information about the porphyrias while working to ensure that these diseases remain an area of active scientific and clinical study until we have our cure.
Since its founding, the APF has:
Joined with other rare disease advocates to push for founding of the Office of Rare Diseases at the National Institutes of Health. In 1983, Executive Director Desiree Lyon joined with Woody Guthrie's widow Marjorie and other rare disease advocates to urge the FDA to establish an Office of Rare Diseases to address the needs of rare disease patient communities for research and new treatments.
Helped secure FDA approval for Panhematin as the first orphan drug. In 1983 President Ronald Reagan signed the Orphan Drug Act into law, and the FDA approved Panhematin for sale. Panhematin became the first (and still only) life-saving treatment for these deadly diseases available in the United States.
Worked hand-in-hand with the top porphyria experts in the United States to publish accurate medical literature accessible to patients. The APF Scientific Advisory Board is comprised of doctors & scientists each with at least 30 years’ experience in the diagnosis and treatment of porphyria. This knowledge-base has been central to our mission of disseminating reliable information to patients and their physicians. Much of this information is available here on our website in both English and Portuguese, with more detailed resources for physicians and APF members available for order from our office.
Established a Protect the Future fund to endow training for a new generation of porphyria specialists. The men and women who have so generously given their time, compassion and expertise for the past 25 years are rapidly approaching retirement, and some have already left clinical practice or academic medicine entirely. In 2005, thanks to the generosity of our members, the APF began making grants to train young doctors in the diagnosis and treatment of porphyria. These young doctors are working and studying with long-time experts, seeing patients, and doing research, gaining the expertise they will need to care for the U.S. porphyria patient population for decades to come.