Rare Disease Day February 29, 2012

Show Your Support!

What is Rare Disease Day?
Rare Disease Day focuses awareness on the vast number of rare diseases in the world. It has been estimated that there are between 6,000 and 8,000. Unfortunately, treatments are available for a little over 200 of these diseases and new rare diseases are discovered every year. Due to legislation such as the Orphan Drug Act more treatments may be developed in the future.

Orphan Drug Act

Orphan Drug Act -- Excerpts
(Public Law 97-414, as amended)

CONGRESSIONAL FINDINGS FOR THE ORPHAN DRUG ACT
The Congress finds that---

(1) there are many diseases and conditions, such as Huntington's disease, myoclonus, ALS (Lou Gehrig's disease), Tourette syndrome, and muscular dystrophy which affect such small numbers of individuals residing in the United States that the diseases and conditions are considered rare in the United States;
(2) adequate drugs for many of such diseases and conditions have not been developed;
(3) drugs for these diseases and conditions are commonly referred to as "orphan drugs";
(4) because so few individuals are affected by any one rare disease or condition, a pharmaceutical company which develops an orphan drug may reasonably expect the drug to generate relatively small sales in comparison to the cost of developing the drug and consequently to incur a financial loss;
(5) there is reason to believe that some promising orphan drugs will not be developed unless changes are made in the applicable Federal laws to reduce the costs of developing such drugs and to provide financial incentives to develop such drugs; and
(6) it is in the public interest to provide such changes and incentives for the development of orphan drugs.

For more information go to the FDA's Regulatory Information Page at http://www.fda.gov/

Rare Disease Day is A way for you or your organization to share what you will do this year in support of Rare Disease Day.

Individuals, Patients, Patient Organizations, health professionals, researchers, drug developers, public health authorities and everyone having an interest in rare diseases are invited to join this year's campaign. Learn how you can support Rare Disease Day at http://www.rarediseaseday.org/

Definition of Rare diseases
A disease or disorder is defined as rare in Europe when it affects fewer than 1 in 2000.
A disease or disorder is defined as rare in the USA when it affects fewer than 200,000 Americans at any given time.

One rare disease may affect only a handful of patients in the EU (European Union), and another touch as many as 245,000. In the EU, as many as 30 million people alone may be affected by one of the 6000 to 8000 rare diseases existing. New rare diseases are discovered every year.

- 80% of rare diseases have identified genetic origins whilst others are the result of infections (bacterial or viral), allergies and environmental causes, or are degenerative and proliferative.
- 50% of rare diseases touch children.

Characteristics of rare diseases

The 6000 to 8000 rare diseases are characterized by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease.

Relatively common symptoms can hide underlying rare diseases leading to misdiagnosis and delaying treatment. Quintessentially disabling, the patients quality of life is affected by the lack or loss of autonomy due to the chronic, progressive, degenerative, and frequently life-threatening aspects of the disease.

The fact that there are often no existing effective cures adds to the high level of pain and suffering endured by patients and their families.