What Is a Rare Disease?

Rare Disease Day takes place on the last day of February each year to raise awareness about rare diseases and the impacts that they have on patients. The program seeks to educate the public, and those who have an interest in rare diseases, such as policy makers, public authorities, industry representatives, researchers and health professionals.

A rare disease is defined as affecting fewer than 200,000 Americans at any given time. It is estimated that 80 percent of rare diseases are tied to genetics. Others are linked to bacterial or viral infections, allergies and environmental causes, or are degenerative and proliferative. Around half of those affected by rare diseases are children. A rare disease may be an illness, condition, syndrome, disease or disorder.

Around 95 percent of rare diseases do not have an FDA-approved treatment or therapy. Those in the remaining 5 percent of patients may be unable to access treatment due to high costs and lack of availability. Most patients with a rare disease are misdiagnosed or undiagnosed, which can lead to the premature death of infants and small children. Because of the relatively few FDA-approved treatments for rare diseases, around 90 percent of healthcare practitioners treat rare diseases with drugs that are not FDA-approved. Of the 100 types of cancer, half of cancer patients have rare cancers that may include brain, pancreatic, ovarian, thyroid and stomach cancers, leukemia and lymphoma, and all pediatric cancer. By the numbers, more people have a rare disease than are living with HIV, heart disease or stroke combined.

The issues facing those living with rare diseases include symptoms that not only vary from disease to disease, but also from patient to patient suffering from the same disease. This can lead to a delay in diagnosis and treatment. A lack of existing cures and access to care means that patients and their families endure further stress and suffering. But there is still hope.

Better approaches and further clinical and scientific research has led to an increase in knowledge, and the development of better public health policies. Through community programs and expanded press coverage, patients and their families can find resources and support for dealing with rare diseases. Research is a top priority for rare diseases and each Rare Disease Day brings new efforts and hope to those suffering from a rare disease. In order to be successful, research efforts must have advocates, funding, partners and participants to find answers.

Orphan Drug Act (1983) and the EU Regulation on orphan medicinal products (2000) started the Rare Disease Day efforts. It is important that the effort to cure rare diseases is international, and the research is shared so that more people can benefit from the efforts of scientists and advocates. Further efforts go into the community to help educate and bring understanding to those living with rare diseases and their families. By supporting and helping with the efforts of Rare Disease Day, solutions may be found.

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