Thursday, February 25, 2021 – 13:57 | Last Updated: 25 02 2021 – 13:57
Progeria, cystic fibrosis, escape syndrome, mucopolysaccharidosis and lysosomal storage diseases … You may be hearing these names for the first time! Even when the first diagnosis is made, a group of diseases that the hearer is surprised to think about is rare diseases. It has more than 7 thousand diseases and although its name is rare, the number of patients it actually covers is quite high. Head of Medical Genetics Department Prof. Dr. Uğur Özbek gave information about rare diseases due to 28 February World Rare Diseases Day.
Worldwide 300 million, 7 million people living in Turkey with various different rare diseases. The reason why it is called rare is that although there are more than 7 thousand varieties in total, its incidence is low compared to common diseases. For example, allergies are seen in one in every 5 babies, while hemophilia, which is a rare disease and causes bleeding tendency, is encountered once in every 10,000 babies.
The number of rare diseases is increasing day by day so that dozens of new diseases are added to this list every year. In order to raise awareness for these situations, it tries to attract the attention of the public with events special to the World Rare Diseases Awareness Day every year. Head of Medical Genetics Department Prof. Dr. Uğur Özbek, on the other hand, states that doing research on rare diseases has made new contributions to the scientific world and that significant success has been achieved in the diagnosis and treatment of patients.
IT AFFECTS CHILDREN THE MOSTLY
THE CAUSES OF MANY DISABILITIES, RARE DISEASE
The effects of these diseases affecting a significant part of the society can be at various levels. Noting that rare diseases can threaten the life of people or cause them to live with a chronic disability, Prof. Dr. “Most of the physical or mental disabilities that we encounter in daily life such as visual impairment, disproportionate short stature, hearing loss, and spasticity can be caused by a rare disease.” says.
FIRST PROBLEM IS EXPERIENCED IN DIAGNOSIS
“The first challenge for rare diseases starts at the diagnosis stage. It is known that the average diagnosis period of an individual with a rare disease is at least 4 years. Because the number of physicians with expertise and experience to diagnose such diseases is extremely low. The second problem we encounter when it comes to rare diseases is the treatment and follow-up phase. Since these diseases are defined in very few people all over the world, the number of physicians and healthcare professionals with experience in this field is also low. Even though patients can reach these rare physicians, this time they face the problem of high treatment and medication costs. “
THE MEDICINE OF THESE DISEASES IS ORPHANS
Years of struggle and intense labor are required to develop and launch a drug. Emphasizing that producing drugs for rare diseases should be handled as a matter of dignity and ethics, Prof. Dr. Uğur Özbek said, “Demand for research, development and production of such drugs is low. For this reason, they are called ‘orphan medicine’. In terms of orphan drugs that are delivered to patients in our country, we are largely dependent on abroad. ” says.