Important Facts on Rare Disease Day 2020

Rare Disease Day is observed on the last day of the month of February every year. There are certain types of Rare Diseases found in people across the globe. This day aims to spread awareness on the types of rare diseases. It also aims to spread the knowledge on the fact that there is still no cure. As a result, it will help the general public, researchers and the policymakers (govt.) to be aware of such diseases.

The statistics of affected people are shared by the organization of Rare Disease Day. It states that over 300 million people are suffering from unique diseases. Those 300 million are identified with over 6000 rare diseases. Therefore, one needs to understand its important facts to identify the diseases.

What is Rare Disease?

The words “rare disease’ was coined in Europe. A disease is considered to be rare when it affects 1 person out of 2000. At present, the suffered lot of such diseases is 3.5% to 5.9%. Also, with much research, a total of 72% of rare diseases are recognized to be genetic. However, rests of the diseases are caused by infections, allergy, and environmental effects. Those infections include viral and bacterial infections. Rare Disease Day can help the general public to be aware of the types of it as well.

What are the Characteristics of Rare Diseases?

There is a peculiarity in the characteristics of rare diseases. Hence, there are chances of misdiagnosis many times. The symptoms seem to be common with known diseases sometimes. However, the symptoms vary. Meaning every individual will not suffer from the same symptoms. As a result, one rare disease symptoms are not prominent on every patient suffering from it. Hence, research shows that the characteristics are not fixed on every patient. Because of the rarity and diversity in the characteristics of rare diseases, more innovation still has scope. Thus, every international research institutes need to come closer. And they will need to propose more projects and further research.

Top 5 Types of Rare Diseases in India

There are various types of rare diseases. In this article, we will list the types of rare diseases commonly found in India. Read about the top 5 rare diseases common in India.

Thalassemia Disease

Thalassemia disease is a type of inherited blood disorder disease. This disease is predominately found in Asian, African and Mediterranean descent. One experiences low haemoglobin production. This is because of reducing protein molecules in red blood cells. The protein molecules are responsible for transporting oxygen in the blood. This leads to extreme loss of red blood cells. Hence, it results in anemia. However, as mentioned earlier, the symptoms vary from one person to another.

The common noticeable symptoms are:

  • Delayed growth and development in a child
  • Dark urine
  • Bone deformities
  • Pale yellow skin
  • Fatigue

Cystic Fibrosis Disease

Cystic Fibrosis is another inherited disease. This disease is responsible for damaging the vital organs of the body. It mainly includes the digestive system and lungs. And the symptoms are noticeable in early childhood. However, with no proper curable treatment has developed yet. Many suffer at a later stage of life. This is because the disease is not detected at an early stage. The disease gradually gets worse over a period of time. One needs to go through immediate medical treatment when experienced damage in airways.

The common noticeable symptoms are:

  • Chest infections
  • Shortness while breathing
  • Coughing and wheezing
  • Inflamed nasal passage blocking the airways
  • Poor growth
  • Severe constipation

Haemophilia Disease

Haemophilia disease is another rare blood disorder. It hampers the ability of the blood to clot. It is also an inherited disease similar to the other ones. The most affected lot of gender includes males. The reason for that is still unknown. However, this disease cant has no cure yet. Thus, one needs to be careful. The major symptom includes excessive bleeding. Once the bleeding starts due to any injury or cut it won’t stop on its own.

Rare Disease Day

The common noticeable symptoms are:

  • Skin bruises (it occurs very easily indicating the sensitiveness of the skin)
  • Stiffness and pain in joints (mostly elbows)
  • Blood in urine/stool (it occurs when one suffers from internal bleeding)

Pompe Disease

Pompe disease is also an inherited disease. The disease is commonly witnessed among Asian and African-American descent.

When one suffers from this disease, the body does not a response to breaking down the sugar. Meaning, the body is not able to produce protein. However, protein is responsible for breaking down sugar. Hence, the body is not able to produce glycogen that generates energy. This disorder also leads to muscle weakness with breathing trouble. It results in affecting the heart and liver as well.

Sickle Cell Anemia Disease

Sickle cell Anemia Disease is another inherited disease. This disease mostly affects red blood cells. And the affected lot belongs to Asian, African, Mediterranean descent.

The symptoms of Sickle cell Anemia starts showing at a very young age.

The common noticeable symptoms are:

  • Swelling in hands and feet along with pain
  • Bedwetting (lose control to hold urine-kidney problem)
  • Irritability and fatigue
  • Delayed growth


Therefore, Rare Disease Day will help to share information on rare diseases. If you happen to notice any of the symptoms in your kids or known individuals, get them medical help. Your one approach can help someone with early treatment!