The American Porphyria Foundation was formed in 1982 when Executive Director Desiree Lyon joined with another individual whose family was affected by porphyria to form a patient-run, expert-advised organization that would educate doctors and the general public about porphyria, raise funds for research, and advocate for better policy and patient care.
At the time, Desiree was a very sick young woman undergoing treatment as an inpatient at the National Institutes of Health in Bethesda, MD. The physician-scientists treating her had explained that Acute Intermittent Porphyria was causing the horrible pain she felt, along with seizures and other neurological disturbances, immense swelling and rigidity of her abdomen, and other alarming and life-threatening symptoms.
As so many of us do when we are first diagnosed, Desiree sought more information about her condition, written in language she or any other person without a medical degree could understand. She got permission from her doctors to walk herself and her IV pole down to the hospital’s medical library every day and began reading everything she could find on porphyria. And from that simple beginning, this nearly-30 year old organization was born.
One of the APF’s earliest efforts was joining with other rare disease advocates to form the National Organization for Rare Disorders (NORD), and testifying before Congress in the same year in support of the Orphan Drug Act (1983). Panhematin®, which remains the only specific treatment for acute porphyria available in the United States, was the first drug to be approved under the ODA.
Since then, we have published materials on all the porphyrias for a patient audience; developed a comprehensive website and the educational DVD Porphyria Live; educated doctors at medical conferences, and through mailings and in-hospital seminars; helped thousands of patients in the U.S. and internationally find their way to diagnosis and treatment; served as liaison between the patient/primary care and research communities; and continually sought funds to improve research and training, diagnosis and care for the porphyrias.