The Common Rare Disease
And
Typical Patient Organizations Unique To Each Disease
Odd as it may sound, rare diseases are quite commonplace in modern society. Estimates indicate as many as 8% of the population suffers from one or more rare diseases. Applied to a world population of over 6.3 billion 8% equates to an astounding 500 million people suffering from “rare” disease.
A rare disease or disorder, are those, which affect small patient populations defined as fewer then 200,000 individuals in the United States, taken together 25,000,000 Americans suffer from one of the 6,000 rare diseases or disorders. The European Union's definition afflicts nor more than one in 2,000 people. Many rare diseases or disorders affect as few as one in 100,000 individuals, or even less*. These numbers, however, are limited to known cases and can be deceiving. For example, early 20th century medical professionals estimated that cancer affected only one in 8,000 people. Today we know that cancer afflicts as many as one in three individuals. Rare diseases with severe patholgies can gain general recognition; however, by their own scarce mature many remain unknown.
Today, Rheumatic disease represents more the 100 different diseases that are chronic and unpredictable. More then 40 million Americans, or one is six have a rheumatic disease, including 285,000 children. Rheumatic disease as a group is the most frequently occurring chronic illness in the United States. It is the leading cause of work-related disabilities in people ages 16 - 72.
Relapsing Polychondritis affects 3-5 persons per million in ages ranging from 18 months to 90 years.
Nearly all rare diseases share the following characteristics:
-
chronic and serious health issues
- painful with long suffering
- degenerative and debilitative
- reduction of life quality and longevity
- reduction of patient independence
- lack of a known cure
- inclusion of treatable symptoms
- necessitates managed specialized care
Eighty percent of rare diseases have identified genetic origins. They concern between 3% and 4% of births. Other rare diseases are the result of infections (bacterial or viral) and allergies or due to degenerative and proliferative causes. For many rare diseases, no correlation to cause currently exists due to a lack of disease specific research programs.
Medical and scientific knowledge about rare diseases is lacking. While the number of scientific publications about rare diseases continues to increase, particularly those identifying new syndromes, less than 1,000 diseases, essentially those that occur most frequently, benefit from a minimum of scientific knowledge. The acquisition and diffusion of scientific knowledge is the vital basis for the identification of diseases, and most importantly, for research into new diagnostic and therapeutic procedures. Ironically, medical professional are not required to report the occurrence of a rare disease to any organization or governmental authority.
Diagnosis of a rare disease can be a difficult and lengthy process. It may take years for a patient to obtain an accurate diagnosis. Although some symptoms may be recognized and treated, people can live for several years in precarious situations. Patients and their families later tell of struggles to be heard; of receiving misdiagnosis; and of visiting multiple medical facilities at great personal cost in pursuit of an accurate diagnosis. The result is enormous wastage, with delays in proper treatment resulting in dwindled health. Often multiple, well-meaning medical professionals provide symptomatic treatment by administering what turn out to be inappropriate and sometimes harmful prescription medications and treatments.
Once diagnosed a person living with a rare disease usually becomes an expert in the disease by necessity.Rare disease sufferers and their families are often more pro-active than people suffering from other recognized chronic illnesses. Many are as knowledgeable about their affliction and its particulars as is the professional providing treatment. Moreover, rare disease sufferers sometimes carry out their own treatment where professional care is either unattainable or simply does not exist.
Patient Organizations exist for many rare diseases. They are often the product of experience gained and shared by patients and their families. These patient organizations come in all sizes and varieties. Some are very small and operate, at least initially, from the patient’s kitchen table. Others are large corporate structures with years of experience. Startup organizations often link to other small organizations and grow through contact with persons of similar diagnosis or malady. Patient organizations fill two basic purposes. Primarily, they offer direct support to individuals suffering from the disease. Secondarily, they promote improved awareness of the disease. Nearly every patient organization strives to fill the void in available information for both the medical community and patient.
People with a personal connection are typically those who run patient organizations. Often, they themselves, a close relative, or a friend has the rare disease. For this reason, many patient organizations passionately pursue medical and care solutions. Experienced patients often provide direct personal and practical support to those dealing with a recent diagnosis. The groups provide a forum for sharing experiences and for information dissemination. Discussion groups may revolve around common treatments, known medication side effects, or the availability of specialists and care centers. These same support groups often provide a conduit to medical professionals, and foster interaction between primary care doctors, specialists and even research groups.
By collaborating in clinical trials, patient organizations actively support scientific and medical research into their rare disease. This can take the form of funding a research project; participating in clinical trials; providing a control group; or undertaking advocacy and awareness campaigns to encourage scientists, universities and medical schools, governments or pharmaceutical companies to devote resources to research into the disease and develop therapies for it.
Educational campaigns target a variety of audiences. Patient organizations hold meetings and conferences on their disease and publish newsletters, magazines and web-sites. They reach out to the news media in an effort to raise awareness of the disease and to educate others about it. Doctors and other health care professionals, the scientific community, social workers and government policy-makers constitute a few of the important groups targeted for awareness and education about a rare disease.
Financial support for rare disease studies has improved substantially in recent years. Extensive rare disease research to identify root causes, expand treatment options, and ultimately develop cures requires substantial funding. A wide funding chasm remains for rare disease research. Patient organizations continue to be the strongest hope for developing funding resources. By calling awareness to the need for in-depth research, rare disease patients themselves are still their own greatest resource. Through involvement, each person, their family and friends, can campaign for improved funding for their rare disease research.
* * *
The Common Rare Disease receives little attention from the scientific community for logical reasons.
Clearly, it is impossible to develop a public health policy specific to each rare disease. However, a global approach can give rise to solutions. This approach to rare diseases enables an individual disease to escape anonymity and for public health policies to be established in the areas of scientific and biomedical research, medication research and development, industry policy, information and training, social benefits, hospitalization and outpatient treatment.
