I recently watched Extraordinary Measures (2010), a movie about the real life story of John Crowley, a father of two children with Pompe disease. Pompe is a rare and serious genetic disorder causing progressive muscle weakness. An infant with the disease dies before reaching her first year. If untreated in older patients, they will eventually die from heart or respiratory failure. John Crowley raised $100 million dollars to form a biotechnology company to develop a drug to treat his children. John Crowley resorted to “extraordinary measures” to save his children. Why? Because Pompe disease is an “orphan disease.”
Orphan diseases are those rare illnesses and conditions that affect less than 200,000 people. It is estimated that over 25 million Americans are affected by one of over 6,000 orphan diseases including the well known disorders ALS, cystic fibrosis, and Duchenne muscular dystrophy, and rare diseases such as Pompe. Between 85 to 90 percent of these disorders are serious or life threatening.[1] Drugs that are specifically developed for these rare medical diseases and conditions are termed “orphan drugs.”
Researching treatments for orphan diseases is just as expensive as research into conditions affecting larger numbers of individuals. Drug companies are reluctant to invest in orphan drugs. They are expensive to develop, may not succeed, and are rarely profitable because they benefit only a small group of patients.
Drug companies rely on so-called “blockbuster drugs,” drugs that can be prescribed to a large number of individuals, such as cholesterol-lowering medication. Blockbuster drugs are often “me-too” drugs, similar to medications already on the market. This means less innovation for other health needs.
Government incentives are necessary to encourage pharmaceutical companies to invest in treating rare diseases. The US has enacted successful legislation to stimulate the development of medical treatments for orphan diseases.[2] Additionally, private patient-driven organizations also play an important role in the funding and development of orphan drugs.
Even with focus on funding and incentives for drug development by the government and private organizations, the research and development of drugs to treat orphan diseases remains neglected, leaving many patients without any hope for effective treatment or symptom management.
This strikes many as being inequitable, especially since the majority of orphan diseases severely affect patients. Shouldn’t individuals with the most need, receive the most attention? Unfortunately, this is not how it works in the free-market enterprise system. The distribution of resources is not based on need, but on what will make the most profit for private individuals and corporations. Indeed, many have legitimately cited the problem of orphan drug development as a criticism of free-market enterprise.
As Christians, we should be concerned with relieving the pain and suffering of all. Finding solutions to the problem of orphan drug development may not be easy given our current market system, but we shouldn’t neglect developing treatments for individuals suffering from orphan diseases simply because they are not the majority. John Crowley’s children were treated and his story had a happy ending. But let’s not demand extraordinary measure for the other 5,999 orphan diseases.
[1] Marlene E. Haffner, “Adopting Orphan Drugs - Two Dozen Years of Treating Rare Diseases,” New England Journal of Medicine 354 (2006): 446.
[2] Orphan Drug Act of 1983, Public Law 414, 97th Cong. (January 4, 1993); Rare Disease Orphan Product Development Act of 2002, Public Law 281, 107th Cong. (November 6, 2002).