Rare Disease Day: Its Significance & 7 Most Rare Diseases in the World

Source: NDTV Food

Not many of you may be aware of the fact that the last day of February each year is marked as Rare Disease Day,. It is celebrated worldwide to draw attention to various kinds of diseases that affect a specific number of people and there are still no definite cure for them. This year the theme is 'Research' and it aims to highlight the importance of research in being able to identify the causes of these diseases, triggers, and cure to bring relief to the patients. The earth is home to all sorts of organisms. While some do no harm to human health, there are others that can be lethal. Moreover, genetic factors can also cause various ailments and most of them still need in-depth research so that scientists can come up with treatment and cure.

Rare diseases refer to those medical conditions which affect a very small number of the population. They are characterised by a broad diversity of disorders and symptoms that vary not only from disease to disease but also from patient to patient suffering from the same disease. 80% of rare diseases have identified genetic origins whilst others are the result of infections, allergies and environmental causes. Some are degenerative and proliferate while 50% of rare diseases affect children. In most of the cases, there are no existing effective cures adding to the high level of pain and suffering endured by patients and their families.

First launched by EURORDIS and its Council of National Alliances in 2008, the main objective of this day is to raise awareness among general public, policy makers, public authorities, industry representatives, researchers, health professionals and others. On Rare Disease Day, hundreds of health organizations all over the world work on a local and national level to disseminate information. Till now, thousands of events have taken place throughout the world reaching hundreds of thousands of people and resulting in a great deal of media coverage. Creating awareness for such diseases is very essential in order to initiate research for finding the cures.

Here is a list of seven rare diseases around the world which you should be aware of:

1. Hutchinson-Gilford Progeria
The first of the rarest disease in world is Hutchinson-Gilford progeria, which is usually known simply as progeria. Progeria is a genetic condition that occurs as a new mutation which is characterized by the dramatic appearance, quick aging in childhood. There is no cure for Progeria, though doctors have tried growth hormone therapy and anticancer drugs but doctors usually focus on reducing the complications of the disease.

2. Fields’ Disease

Its named after two twins, Catherine and Kristie Fields from Wales. This disease does not have a medical name, but doctors have been able to call it a neuromuscular disease wherein the muscles in the body slowly deteriorates, which restricts movements.

3. Fibrodysplasia Ossificans Progressiva

It affects the connective tissue. At birth, the classic symptom of this disease is a malformation of the big toe. There is no known treatment for FOP, as surgery to remove the bone seems to cause the body to produce more.

4. Von Hippel-Lindau

This is characterised by the growth of tumors in various parts of the body. Many tumors will grow in the central nervous system and are often benign, but made of blood vessels. Medically known as hemangioblastomas, these tumors can start growing in the retina, brain and spinal cord.

5. Microcephaly

Microcephaly is a very rare condition that is seen immediately at birth, and sometimes even before birth. The head becomes smaller than normal baby’s head at birth. Many believe that the disease is caused by exposure to hazardous substances while the baby is in the uterus, such as radiation, or genetic problems. The disease is usually paired with Down's syndrome. Those who have microcephaly are usually mentally retarded and will have problems with hyperactivity, dwarfism, seizures, balance problems, speech and motor problems, as well as others.

6. Paraneoplastic Pemphigus

PNP is a rare autoimmune bullous disease that causes blistering. Keratinocytes are separate from one another, leaving gaps. Many times the gap becomes filled with fluid peel, leaving skin raw and open to infection. These blisters usually appear in the mouth, throat, lips, and random places on the skin.

7. Morgellons

Morgellons itself as a disease is poorly understood that some doctors seem to believe this is a chronic infectious disease. The disease is classified by biting, itching, or crawling sensations, filaments growing from the skin, and skin lesions, as well as memory loss, and fatigue. There are not known drug or effective treatment for Morgellons.