Progeria, cystic fibrosis, escape syndrome, mucopolysaccharidosis and lysosomal storage diseases… You may be hearing these names for the first time! Rare diseases are a group of diseases that surprise people even when they are first diagnosed and think about what they are. It contains more than 7,000 diseases, and although the name is rare, the number of patients it covers is actually quite high. 300 million people in the world and 7 million people in Turkey live with 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, while allergies are seen in one of every 5 babies, hemophilia, which is a rare disease and causes bleeding tendency, is encountered 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 special events for World Rare Diseases Awareness Day every year. Director of Acıbadem University Rare Diseases and Orphan Drugs Application and Research Center (ACURARE), the first center in Turkey, and Head of Medical Genetics Department Prof. Dr. Uğur Özbek, on the other hand, states that research on rare diseases provides new contributions to the scientific world, and significant successes have been achieved in the diagnosis and treatment of patients.
Affects children the most
Rare diseases, which define diseases that occur less than one in two thousand people in the society, mostly affect children. Studies show that 75 percent of these diseases are seen in children. Moreover, one out of every three babies born with some rare life-threatening diseases for which there is no cure yet dies before the age of one. Survivors have to contend with chronic physical or cognitive disabilities. Noting that the rate of rare diseases is increasing especially in countries where consanguineous marriages are common, Prof. Dr. Uğur Özbek said, “Turkey is among the countries where rare diseases are common. The high rate of consanguineous marriage also causes rare diseases to be seen more frequently than in European countries and the USA. Because 80% of these diseases are caused by genetic reasons. The cause of 20 percent is thought to be environmental and other factors or is not yet known. For this reason, the reduction of consanguineous marriages is of great importance in terms of preventing rare diseases.”
Cause of many disabilities, rare disease
The effects of these diseases, which affect a significant part of the society, can be at various levels. Noting that rare diseases can threaten people’s lives or cause them to live with a chronic disability, Prof. Dr. Uğur Özbek, “Most of the conditions that cause physical or mental disability such as visual impairment, disproportionate short stature, hearing loss, spasticity that we encounter in daily life can be caused by a rare disease.” says.
The first problem is in the diagnosis
Approximately 300 million people in the world live with health problems that fall under the definition of ‘rare diseases’. The number of people who have to live with rare diseases that affect 6-8% of the society reaches 7 million in our country. Emphasizing that all these figures are so serious that we should see rare diseases as the problem of millions, Prof. Dr. Uğur Özbek states that the critical process begins at the diagnosis stage and continues as follows:
“The first challenge for rare diseases begins at the diagnosis stage. It is known that the average duration of diagnosis of an individual with a rare disease is at least 4 years. Because the number of physicians who have the expertise and experience to diagnose such diseases is extremely few. 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 who have experience in this area is also low. Even if patients have access to these rare physicians, they still face the problem of high treatment and drug costs.”
The cure for these diseases is orphan
It takes years of struggle and hard work to develop and market a drug. Emphasizing that producing drugs for rare diseases should be considered as a matter of dignity and ethics, Prof. Dr. Uğur Özbek said, “The demand for research, development and production of such drugs is low. For this reason, they are called ‘orphan medicine’. We are largely dependent on abroad in terms of orphan drugs delivered to patients in our country.” says.
“The pandemic period also affects those with rare diseases”
Acıbadem University Rare Diseases and Orphan Drugs Application and Research Center (ACURARE) and Acıbadem University Rare Diseases Student Club organize a series of online events. Explaining that they will discuss the problems and solution suggestions of individuals with rare congenital diseases related to immunity during the pandemic period, Dr. Özbek stated that the effects of the pandemic on rare diseases will be emphasized. prof. Dr. Uğur Özbek said, “The pandemic adversely affected the diagnosis and treatment of these patients. Because the centers where these patients, who are mostly suffering from chronic diseases, will receive treatment, which are already limited in number, were affected by the pandemic and their accessibility decreased. Due to these and similar factors, the diagnosis process was prolonged and the treatment was disrupted. Therefore, there were some problems in both diagnosis and treatment processes due to pandemic conditions.” said.
Source: (BHA) – Beyaz News Agency
