What is a rare disease? There have been over 7,000 rare disorders defined and there is now a stated goal to achieve treatment for about 200 of them by the year 2020. I personally did an independent survey over the weekend asking what people thought was the largest global health epidemic in their opinion. I thought HIV/AIDS would be the number one response, but surprisingly, obesity was a big answer to my inquiry. Cancer was considered simply unbeatable so disqualified, and malaria is so far away from the United States many were unaware of its effects on the global population. However, what about the rare diseases that may only affect a few thousand people on this earth? There is a push by several organizations now to fund more rare disease research and is in the news this week.
According to a statement from the European Delagation to the United States, the following comment was made based on a meeting held earlier this month:
“Today, the diagnosis for most patients affected by rare diseases remains a challenge and most are lacking dedicated therapies. Recent progress in human genomics and other scientific advances increases the prospect for developing effective interventions. Progress will require increased coordination and renewed efforts among multiple stakeholders across the world. Over the last days a group of research funders, patient advocacy groups, researchers, industry and regulatory agencies continued their work at the second meeting of the International Rare Disease Research Consortium, IRDiRC. The success of this meeting was the endorsement by many stakeholders of objectives to deliver by 2020 diagnostic tests for all rare diseases and 200 new therapies for patients affected by rare diseases.”
For example, and in light of the NBA playoffs being in full swing, perhaps you remember the name Manute Bol. The 47 year-old, 7-foot-7 Sudanese former NBA player had acute kidney failure and a rare skin disorder called Stevens-Johnson Syndrome, in which the skin and mucus membranes blister and shed in reaction to an infection or a medication. It’s thought that Mr. Bol developed the severe rash after being treated for a kidney infection at a hospital in Sudan, where he was working to build a series of schools with the organization he founded, Sudan Sunrise.
According to the Mayo Clinic, Stevens-Johnson syndrome is a rare, serious disorder in which your skin and mucous membranes react severely to a medication or infection. Often, Stevens-Johnson syndrome begins with flu-like symptoms, followed by a painful red or purplish rash that spreads and blisters, eventually causing the top layer of the skin to die and shed.
In an interview with the Associated Press, Dr. Ed Mascioli of Pfizer Inc. stated:
“The industry as a whole has a pipeline problem. It’s increasingly difficult to develop drugs for common diseases.”
Another rare disease being focused on is called progeria and also starts with a skin condition as a first sign. The earliest symptoms include failure to thrive and a localized scleroderma-like skin ailment. As a child ages past infancy, additional conditions become apparent. Limited growth, alopecia, and a distinctive appearance (small face and jaw, pinched nose) are all characteristics of progeria. People diagnosed with this disorder usually have small, fragile bodies, like those of elderly people. Later, the condition causes wrinkled skin, atherosclerosis, kidney failure, loss of eye sight, hair loss, and cardiovascular problems.
It is good to have a goal in general, and now the global medical community hopes to find some answers to rare diseases by the year 2020.
Sources: Delegation of the European Union to the United States of America, The Progeria Research Foundation and ESPN
Written by Sy Kraft