Every year, the last day of February is accepted the "World Rare Disease Day" to draw attention to rare diseases affecting millions of people. IU Cerrahpasa Faculty of Medicine member and Paediatric Rheumatology Prof Özgür Kasapçopur gave insight into the increasing importance of rare diseases all over the world in recent years.

Hundreds of rare diseases

Expressing rare diseases affect 350-400 million people in the world Prof. Dr. Özgür Kasapçopur went on, "The concept of rare disease is a disease that is seen in less than one person in ten people in a healthy society. When we look from a childhood perspective, it is rougly in one in two thousand children. It is not possible to give a clear figure about the number of rare diseases. There are dozens or even hundreds of rare diseases. There are very different reasons for a rare disease. Their diagnosis is very important. Because they are rare in society, that is, physicians do not encounter them very often, so they can face more serious problems."

80% in genetics

Stating that many rare diseases are caused by genetics Dr. Kasapçopur said "Approximately 80% of rare diseases are genetic causes. However, there are also rare diseases that are not caused by genetics but rather due to immune system disorders. These include 'childhood rheumatic diseases' that I have worked with in particular. Some childhood cancer can also be evaluated under the concept of rare disease. "

Stating that raising awareness about rare diseases is very important Professor. Dr. Kasapçopur explained, "Because these diseases are rarely seen in society, my teammates did not think of them. Therefore, it is very important to increase awareness of these findings. We, as Cerrahpaşa Faculty of Medicine, are a reference centre for this disease. From Turkey and abroad, we have a large number of patients. The process of diagnosing the main findings of their follow-up is crucial. It is possible to start treatment early if it is diagnosed early. Drugs used in the treatment of these rare diseases are not so common just like the diseases themselves. We use the expressions ‘orphan drug' referring to those drugs.

Early diagnosis is vital

Touching upon too frequent cousin marriage in our country, Prof Kasapçopur went on: "There are diseases that happen in many different forms. When we cannot control this active inflammation, the fever that cannot be controlled of the child’s, the disease state is accompanied by serious joint manifestations and serious joint findings. These joint findings, joint involvements can lead to permanent joint damage in the child. In our country where average life span is 80 years such problems in a very small age can leave marks that can affect the whole life of the child. But if we would effectively diagnose and treat these children in a timely manner, than we could prevent permanent damage."

Stressing the difficulty of the diagnosis and treatment process Prof Dr Kasapçopur said, "It is very important for the parents to reach us in time. In other words, when the families reach us earlier then we are able to identify, diagnose, treat the patients faster. The earlier the patients came to us, the chances are better that we can be successful in treatment of patients who have fever and regenerative fevers."

Important centres with specialty on rare diseases

Telling that there are centres that work on rare diseases all around the World Prof Dr Kasapçopur said, "There are important centres working on rare diseases. Paediatric rheumatology is one of the most important ones in this group. We work on paediatric rheumatology. We have collaborations with all the researchers who are researching this subject in the world. New developments in diagnosis and treatment processes provide us with great facilities and we are trying to help in this regard so that we have healthy children and a healthy progeny."

As an example of rare diseases giving the example of FMF disease, Prof Dr Kasapçopur continued: "Rare diseases can vary from country to country.'Familial Mediterranean fever', one of the most common genetic diseases in our country, can be a rare illness when you go to Netherlands. There are also genetic diseases that we saw in childhood. These are congenital body disorders. Diseases in which body integrity is impaired, such diseases are rare diseases. "

Media has a very important ability

Expressing that the media has a very important voice regarding rare diseases, Prof Dr Kasapçopur concluded his speech as follows: "The ability of the media is vast. I want to explain this to you through a sample of what we have experienced. It is very important to announce and to share these things with the public. Because when they are watched people's awareness increase. I want to tell you an example that had happened to me. In the past few months, we have made important contributions to the diagnosis of a vascular inflammation that we have seen so rarely, and it has taken place as news in the media. The child had severe vision loss. The child's vasculature had a disease affecting all body vessels and all the functions improved with the treatment. This news were heard by a family who lives in Erzurum and after hearing the treatment they came to Cerrahpaşa Faculty of Medicine and the boy is in good health now. In this sense, making news about rare diseases is very important to raise awareness. "

Translated by Mahmut KOCAKAYA, Ece GÖÇ

IU Press & Public Relations