Why a Rare Disease like PH is Important

Rare diseases cause many cases of chronic illness, disability and premature death in children and adults

In the U.S., 7,000 diseases are classified as rare or affecting less than 200,000 patients. As a group they are an important cause of chronic illness, disability and premature death in both children and adults, according to the Rare Diseases Clinical Research Network. Indeed, PH itself is chronic, can be disabling and has caused premature death in many children and adults.

Rare diseases affect nearly 10 percent of Americans

Rare diseases as a whole affect approximately 30 million Americans or almost 1 in 10 people, according to the National Organization for Rare Disorders, which notes that certain common challenges face all patients and their families affected by rare diseases.

Pulmonary hypertension has as many or more treatment options than all but two rare diseases

Among the thousands of rare diseases, pulmonary hypertension has as many or more treatments available than all but two -- leukemia and HIV/AIDS. The number of PH-treating specialty physicians has also increased dramatically in recent years. With these relatively recent advances in the PH field, PH patients have more opportunities to improve their lives with this chronic illness than do patients with many other rare conditions.

Rare diseases create opportunities to advance public health

First, rare diseases may be associated with more common diseases. For instance, many patients with PH also have heart and lung diseases, scleroderma (connective tissue disease), lupus, HIV or sleep apnea.

Second, research into rare diseases can lead to discoveries that advance understanding of many other diseases, including more common ones. For example, two Nobel Prizes were awarded to researchers working on PH. In 1982 Sune K. Bergström, Bengt I. Samuelsson and John R. Vane were awarded the Nobel Prize for their discoveries concerning prostaglandins and related biologically active substances. In 1998, Robert F. Furchgott, Louis J. Ignarro and Ferid Murad received this honor for their discoveries concerning nitric oxide as a signaling molecule in the cardiovascular system.

Faces of PH

Marcia Beverly
Marcia Beverly

"After 15 months of many doctor visits, including a cardiologist and pulmonologist and many, many tests showing nothing amiss, and being diagnosed with asthma, I learned that I had quite a serious disease. I was in left heart failure by then, with several side effects and had pulmonary hypertension."
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The National Organization for Rare Disorders (NORD) awarded PHA the Abbey S. Meyers Leadership Award in 2012 for outstanding service to PHA members in advocacy, education and other key areas.