Learn All About Rare Disease Day
People don’t talk much about rare diseases because they affect small populations. Therefore, those affected pay the consequences of the lack of health equity. Rare Disease Day seeks to raise awareness.
Being sick is a difficult situation that causes a lot of uncertainty. However, suffering from a disease that experts don’t know anything about and that the health system isn’t prepared to address, is a lot worse. Due to this adverse situation, Rare Disease Day was created to raise awareness.
It’s celebrated on the last day of February as a way to make those who suffer from rare diseases feel less isolated. Also, it’s a way to foster medical advances in rare diseases.
According to data from the World Health Organization (WHO), one out of 15 people worldwide could suffer from a rare disease. This equals approximately 400 million people worldwide, of whom 30 million live in Europe and 25 million in the United States.
In this article, we’ll clarify what a rare disease is, share some historical facts about them, and tell you how to help a diagnosed person, among other information.
What’s a rare disease?
A rare disease affects small populations. In other words, a disease is considered rare when it affects fewer than five in 10,000 people. There may be as many as 7,000 rare diseases. Below, we’ll tell you about the rarest ones.
Ebstein anomaly is a congenital heart defect. The tricuspid valve is in the wrong position. Also, the valve’s flaps (leaflets) have an incorrect shape. This can result in an enlarged heart, heart failure, or leakage of blood through the valve.
Moebius syndrome is a rare and congenital neurological disorder that causes paralysis of the face. Also, it causes limited abduction in one or both eyes, swallowing problems, and pronunciation problems, among others. Weakness or paralysis of the 6th (abducens) and 7th (facial) nerves lead to it.
Chediak-Higashi syndrome (CHS)
Chediak-Higashi syndrome (CHS) is caused by a mutation of a lysosomal trafficking regulator protein. This affects the body’s defenses, as they fail to fulfill the function of fighting external agents that attack the body.
Thus, it limits the phagocytic function, which consists of the selective elimination of damaged cells or microbes. This leads to problems such as anemia, recurrent infections, and an enlarged liver.
Bardet–Biedl syndrome (BBS)
This is a rare autosomal recessive disorder that affects different areas of the body. Obesity, reproductive organ malfunction, mental retardation, polydactyly, and heart defects may occur, among others.
It’s a rare hereditary multisystemic disorder that causes eight separate disorders. Some of these disorders are oculocutaneous albinism, pulmonary fibrosis, kidney disease, and bleeding disorders.
Below, we share a list of other rare diseases with a slightly higher incidence in the population:
- Myasthenia gravis
- Progeria or Hutchinson-Gilford syndrome
- Amyotrophic lateral sclerosis (ALS)
- Goodpasture syndrome (GPS)
- Tarlov cysts
This article may interest you: Conoce las enfermedades más peligrosas para el ser humano
Historical facts about Rare Disease Day
Rare Disease Day is celebrated on the last day of February for a very specific reason. This is because it’s a “rare” date that happens only once every four years. Thus, it takes place on the last day of February, a month is known for having a “rare” number of days to advocate for these patients.
It was first celebrated in 2008, and its slogan that year was “A rare day for very special people”. The 2020 slogan was “Rare is many. Rare is strong. Rare is proud!”
This commemoration became a reality because the relatives of those affected fought to give them a voice and destigmatize these diseases to improve treatment options.
European societies such as the European Organisation for Rare Diseases (EURORDIS) and the Spanish Federation of Rare Diseases (FEDER) joined the cause. It’s progressively become a world phenomenon. In fact, the National Organization for Rare Disorders (NORD), the leading patient advocacy organization, is the official US sponsor of Rare Disease Day.
How to help a person who was diagnosed with a rare disease
Being diagnosed with a rare disease is a complex situation to take in. It causes uncertainty, fear, depression, and anxiety. Therefore, experts recommend the following care and attention to help the patient cope:
- Understand the disease. Even though the disease is rare, understanding what it consists of and how it progresses can help.
- Make consistent decisions. Don’t make impulsive decisions regarding the treatment plan to follow or while analyzing all available options. It’s best to make decisions once you’re cool, calm, and collected.
- Don’t neglect emotional health. Help the patient express their emotions, doubts, and fears, as this will improve their mental health.
- Resort to professional psychological support. It’s likely for a patient who suffers from a rare disease to eventually suffer from a psychological disorder. Therefore, getting them psychological help is a great way to avoid psychopathological disorders.
How you can support Rare Disease Day
You can support Rare Disease Day by making small gestures and even organizing fundraisers. Here are some interesting ideas you can consider:
- Post a photo of the official logo on social media to enhance the visibility of Rare Disease Day.
- Comment on social media using the hashtag #RareDiseaseDay.
- Publish statistics so that people become aware of just how much this problem affects these patients.
- Organize a fundraiser. The money could be used to research treatments for rare diseases.
- Talk about someone you know who suffers from a rare disease to raise awareness.
“The purpose of Rare Disease Day® is to harness the creativity and energy of the millions of people around the world with rare diseases – and the millions who care about and assist them – to raise awareness and generate action.”
What to remember about Rare Disease Day
Participating in Rare Disease Day will help encourage researchers to seek advanced treatments for these conditions.
Although it’s celebrated on the last day of February, any day of the year is a good time to carry out any activity in benefit of these patients. Integration is the solution and it’s in our hands.
We’re stronger together!