What Is Rare Disease Day?

Getting sick is always a difficult situation that causes a lot of uncertainty. However, an illness about which experts know little and for which the health care system is not prepared to respond is even worse. Due to this unfavorable situation, a Rare Diseases Day was set up with the aim of raising awareness of rare diseases.

Rare Disease Day is the last day of February each year and aims to make people with rare diseases feel less isolated. It is also a way of spreading awareness about the medical development of rare diseases.

According to the World Health Organization, about one in 15 people in the world suffers from a rare disease. This equates to about 400 million people worldwide, of which 30 million live in Europe and 25 million in the United States.

In this article, we will explore what a rare disease is, share some historical facts about these diseases, and explain, among other things, how to help a person diagnosed with a rare disease.

What is a rare disease?

A rare disease affects only a small group of the population. The disease is considered rare when it affects less than five in 10,000 people. There can be up to 7,000 rare diseases. Below we tell you about some of them.

Ebsteinian deviation

Ebstein’s deviation is a congenital heart defect. The three-piece valve is in the wrong position. The shape of the valve flaps is also incorrect. This can lead to an enlarged heart, heart failure, or blood leaking through the valve.

Möbius syndrome

Möbius syndrome is a rare and congenital neurological disorder that causes facial paralysis. In addition, it causes problems in either or both eyes, difficulty swallowing, and pronunciation problems. Weakness or paralysis of the sixth (distancing nerve) and seventh (facial) nerves results in it.

Chediak-Higash Syndrome (CHS)

Chediak-Higash syndrome (CHS) is caused by a mutation in a protein that regulates lysosomal movement. This affects the body’s ability to defend itself because they are unable to fight external pathogens.

Thus, it causes phagosynthetic dysfunction, which means the selective elimination of damaged cells or microbes. This leads to problems such as anemia, an increased risk of infection and an enlarged liver.

Bardet – Biedl Syndrome (BBS)

This is a rare autosomal recessive disorder that affects different areas of the body. Obesity, reproductive dysfunction, mental retardation, polydactyl and heart defects can occur e.g.

Hermansky – Pudlak syndrome

This is a rare inherited multisystem disease that causes eight different types of dysfunction. Some of these disorders include oculocutaneous albinism, pulmonary fibrosis, kidney disease, and bleeding disorders.

The following is a list of other rare diseases with a slightly higher prevalence in the population:

• Elephant disease
• Myasthenia gravis
• Progeria or Hutchinson-Gilford syndrome
• Amyotrophic Lateral Sclerosis (ALS)
• Goodpasture Syndrome (GPS)
• Tarlov cysts

Historical facts from the day of rare diseases

Rare Disease Day is celebrated on the last day of February for a very special reason. The reason for this is that February is a “rare” date that only appears once every four years. Thus, the Day of Rare Diseases is celebrated on the last day of February, i.e. the 29th, because it reflects people suffering from rare diseases.

It was first celebrated in 2008, and its slogan that year was “Rare Day for Very Special People”. The slogan for 2020 was “A lot is rare. Rare is strong. Rare is proud! ”

This day began to be celebrated as the families of those suffering from rare diseases struggled to give these people a voice and break prejudices as well as improve the treatment options available.

European societies, such as the European Organization for Rare Diseases (EURORDIS) and the Spanish Federation of Rare Diseases (ERDF), joined. It has gradually become a global phenomenon. In fact, the National Organization for Rare Disorders (NORD), a leading patient advocacy organization, is the official sponsor of Rare Diseases Day in the United States.

How to help a person diagnosed with a rare disease

Diagnosing a rare disease is a complex situation. It causes insecurity, fear, depression and anxiety. Therefore, experts recommend that you follow these guidelines and consider the patient:

• Understand the disease. Even if the disease is rare, it is important to understand what causes it and how it progresses.
• Make consistent decisions. Do not make impulsive decisions about adhering to a treatment plan or analyzing all available options. It is best to make decisions when you are calm and collected.
• Don’t forget mental health. Help the patient express their feelings, doubts, and fears as it will improve their mental health.
• Seek professional psychological support. It is likely that a patient with a rare disease will eventually suffer from a psychological disorder. Therefore, getting psychological help is a great way to avoid psychopathological disorders.

Rare Disease Day: how we can all get involved

You can support the Rare Diseases Day by making small gestures or even arranging fundraising. Here are some interesting ideas to consider:

• Upload a photo of the official logo to social media to improve the visibility of the Rare Diseases Day.
• Comment on social media hashtag #RareDiseaseDay.
• Publish statistics to let people know how much this problem is affecting these patients.
• Organize fundraising. The money could be used to research rare diseases.

• Talk to someone you know who is suffering from a rare disease to raise awareness.

What to remember about the day of rare diseases

By participating in the Rare Diseases Day, you encourage researchers to seek advanced treatments for these diseases.

Although it is celebrated on the last day of February, the 29th, any day is a good time to practice for these patients. Integration is the solution, and it is in our own hands.

We are stronger together!

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