Rare Diseases
Awareness Ribbon Pins
What is a Rare Disease?
In the United States, rare diseases or disorders are conditions that affects fewer than 200,000 Americans. In other countries, for example in the European Union (EU) and the UK, a rare disease affects fewer than 1 in 2,000 people. The definition of a rare disease or disorder varies by country.
For a comprehensive list of the known rare diseases, we offer two databases:
The first is from the National Organization for Rare Disorders (NORD). The National Organization for Rare Disorders (NORD) focuses on the identification, treatment, and cure of these diseases and disorders through comprehensive education, advocacy, research, and service programs. NORD connects patients to other rare disease families and those struggling to find a diagnosis. Typically, it takes 5 years or more to receive a correct rare disease diagnosis. The awareness ribbon pin associated with NORD'S rare disease database is the zebra pin. To view this database, click here.
The second is a database provided by Orphanet. Orphanet is a free database and organization that contains information on rare diseases, orphan drugs, diagnosis, clinical trials, and expert networks. Orphanet's goal is to improve the diagnosis, care, and treatment of rare diseases. This organization defines a rare disease as one that affects no more than one person in 2,000 in the European population. The French National Institute of Health and Medical Research founded it in France in 1997. Global Genes® follows the Orphanet database. For this reason, the awareness ribbon pin associated with Orphanet and Global Genes® in the United States is the blue jeans pin. To view this database, click here.
Lastly, we offer the zebra, pink and blue pin to represent Undiagnosed Diseases or those searching for a diagnosis.
At Personalized Cause, we offer three pins for rare diseases.
These include:
- Black and White Zebra Pin for Rare Diseases (NORD)
- Blue Jeans Pin for Rare Diseases (Orphanet and Global Genes®)
- Zebra, Pink and Blue for Undiagnosed Diseases
"When you hear hoofbeats, think of horses, not zebras." - Dr. Theodore Woodward.
Yet, "zebras" do exist. This rare disease page of zebras provides an extensive database for those in the rare diseases community.
How are rare diseases classified?
Rare diseases and disorders are classified and understood as either genetic or non-genetic. If a rare condition is not genetic, then the cause will be environmental in some way. For example, an allergen or other environmental factors may have triggered a bacterial or viral infection. Some rare medical conditions remain unexplained.
What is a genetic condition?
A genetic condition is one that is caused by an error or mutation in a person's DNA. The errors in a person's genes cause proteins to be built incorrectly. When the proteins are built incorrectly, a change in the way the body functions results. This change causes the symptoms of a rare disease.
According to the National Human Genome Research Institute, a genetic disorder, as it may be called, can occur in the following four ways:
- A mutation on one gene (Monogenic)
- A mutation on multiple genes (Multifactorial inheritance)
- A combination of gene mutations and environmental factors
- Structural damage to chromosomes
Most genetic conditions are heritable. This means that they have been passed down from parents to their children. Some genetic conditions are caused by completely new mutations. These are called spontaneous mutations. 72% of all rare diseases are genetic in nature, or which 80% are inherited.
What are the medical and social effects of these rare diseases and disorders?
The field of rare diseases suffers from a deficit of medical and scientific knowledge. For a long time, doctors, researchers and policy makers were unaware of rare diseases. Until very recently there was no real research or public health policy concerning issues related to the field.
A common threat connects rare disease patients and their families. Medical understanding, knowledge and research of rare diseases are limited. Patients and their families often suffer from misdiagnosis, delayed treatment, poor care coordination and a lack of support. Having a rare disease can be an isolating experience not only for the patient, but for those who care for the person, as well.
Those affected by rare diseases are also more psychologically, socially, economically and culturally vulnerable. Due to the lack of sufficient scientific and medical knowledge, many patients are not diagnosed, and their disease remains unidentified. These individuals may suffer the most from difficulties in receiving appropriate support.
Rare Disease Week and World Rare Disease Day
Rare Disease Week, held on the last week of February each year, kicks off World Rare Disease Day (February 28/29). It is an annual observance to raise awareness for the millions of people globally affected by rare disease.
February was picked for this observance because it is the rarest among months. It is the only month that does not have 30 or 31 days. In most years, World Rare Disease Day falls on February 28, but on Leap Year, it is on February 29. It's extra rare.
Participating in Rare Disease Week is an important way to raise awareness and advocate for those affected by rare disease. It's an opportunity to educate others about the challenges and needs faced by the rare disease community, including finding better diagnosis, treatments, and social support.
Your participation can increase empathy, promote research funding, and drive legislation for policy changes. You can contribute to this global movement that aims to improve the lives of millions living with rare diseases. And, you can help take another step closer to a world where no disease is too rare to care about.
