Couldn't find what you looking for?


There are a lot of possible rare diseases and that is known to almost every person in the world. A rare disease is any disease that affects a really small number of people. Rare disease is also known under the name of orphan disease. According to the experts, the largest numbers of rare diseases are genetic in nature. This means that a person will suffer from it for as long as he or she lives. One of the most common problems of rare genetic diseases is that sometimes the signs are not seen as soon as the disease occurs. It is a lot more common for rare diseases to occur early in the life. Due to that fact a serious number of children who are affected by these diseases do not live longer than five years. The data claims that that number is 30%.

Relationship to orphan disease

It is important to know that the orphan drug movement first started in the United States. People who support this movement think of orphan diseases as a synonym for rare diseases due to various reasons. The main reasons why that is so, is because there are not that many resources considering the disease, there are not that many treatment options available either and the severity of the disease is a very influential as well. However, this is not the case everywhere and in some places people do not think of rare diseases and orphan diseases as the same thing. For instance, The European Organization for Rare Diseases considers rare diseases as fitting in the larger category which is orphan diseases. Even though rare diseases are not that common, a lot of people all over the world are suffering from them. According to the data, there are more than 350 million people who suffer from some sort of a rare disease at this moment. The experts believe that there are no more than 7,000 distinct rare diseases.

Characteristics of rare diseases

Due to the fact that almost all rare diseases are genetic, they also fall under the category of chronic. Not all of the identified genetic origins of rare diseases are known but the experts claim that only 20% of the origins remain unknown. Apart from the genetics, a person can end up suffering from a rare disease due to some other cause. The most common causes apart from genetic are infections and allergies. It is not an easy task for the experts to classify these rare diseases because they depend on the population that is being studied. For instance, certain forms of cancer are pretty uncommon among children, while on the other hand they are considered to be common among older people. The symptoms of rare diseases are not that reliable either. Some rare diseases may show signs as soon as the child is born, while signs of other diseases may be seen only when the child has all grown up. A lot of people believe that rare diseases are chronic and last for as long as a person lives and have no known cure. However, it is important to know that there are a lot of rare diseases which are short-termed. The healthcare providers are doing everything they can in order to raise the awareness of rare diseases among people and due to that fact there is a Rare Diseases Day today, which is held every year on the last day of February. The first such day was held in the year of 2008, and only in Europe and Canada. Those who suffer from rare diseases need to know that there is The National Organization for Rare Diseases as well. This organization was established back in the 1983 by people who suffered from rare diseases and their families. Common problems for patients with rare diseases

There are a lot of problems that people who suffer from rare diseases face every day but there are some which are considered to be common. For instance, some of these common problems are lack of access to correct diagnosis and delay in diagnosis, lack of proper and quality information on the disease and of scientific knowledge about the disease as well. Patients who suffer from rare diseases also experience severe social consequences. Other common problems are lack of appropriate health care and even difficulties when it comes to the access to treatment and care.

Relevant statistical data

According to the data, the rarest disease today has only one person suffering from it. This disease is called ribose-5-phosphate isomeric deficiency. The experts claim that nowadays there are no less than 5,000 and no more than 7,000 diseases which are considered to be rare. The data also claims that up to 8% of the entire population on the earth is suffering from various rare diseases. When Europe is considered, the data claims that one person out of 2000 is diagnosed with a rare disease.

Your thoughts on this

User avatar Guest