Muteber Eroğlu, Chairman of the Board of the Association of Mucopolysaccharidosis and Similar Lysosomal Storage Diseases (MPS LH), reminded that there is a great race against time in MPS LH, a rare disease, and added: “It is very difficult, sometimes impossible to make up for lost time. Starting and continuing treatment with qualified physicians in the right center is vital in our disease, as it is in many other rare diseases.”
Stating that the disorders collected under the name of mucopolysaccharidosis (MPS) are in the group of genetic lysosomal storage diseases, Eroğlu said, “Lysosomal storage diseases occur due to the inability or underproduction of special substances called enzymes in the body. While these enzymes normally ensure that waste materials in the cell are broken down and removed from the body, these enzymes are missing or insufficient in MPS patients. Due to this deficiency, some substances that need to be removed from the body cannot be eliminated from the body and accumulate in certain organs; It can cause progressive and permanent damage to the organs involved.” said.
Those who are consanguineous are in the priority risk group.
With the accumulation of certain substances that cannot be removed from the body; Pointing out that it causes deterioration in the patient's appearance, physical skills, functions of organs and systems, and, unfortunately, in the development of intelligence in some cases, Eroğlu said, “In this disease, which affects tens of thousands of people all over the world, those who have consanguineous marriages and those with a hereditary disease in their family history are in the priority risk group. ” he said.
Emphasizing that the treatment applied to MPS patients today does not eliminate the genetic defect that causes the disease, Muteber Eroğlu said, “The treatment is aimed at eliminating/minimizing the symptoms of the disease in some systems (except MPS Type III and Type IX), preventing organ damage and increasing the patient's quality of life. In other words, this enzyme, which should be in the body at birth, is produced outside and given to the patient with the ERT method (Enzyme Replacement Therapy), trying to prevent disease damage and increase the patient's quality of life. made a statement.
Emphasizing that different types of disability occur, especially in moderate and severe types of this genetically inherited disease, since the whole body system is affected, Eroğlu said, “MPS, which is a life-threatening disease, is a very difficult disease for both the patient and their relatives. group.” said.
Stating that there is a great race against time in MPS, Eroğlu concluded his words as follows: “It is very difficult and sometimes impossible to make up for lost time. If the newly diagnosed patient and patient's relative do not know what to do, they should contact us somehow. We mobilize all the means we can for them. We can help them with psychological, social and legal support as well as how they can access medical opportunities. Starting and continuing treatment with qualified physicians in the right center is vital in our disease, as it is in many other rare diseases.”
The number of patients followed up by the association has reached 850.
Emphasizing that they established the MPS LH Association in 2009 and the number of patients followed up by the association reached 850, Eroğlu explained how MPS patients and their relatives were affected by the pandemic process as follows: “The devastating effect of the pandemic was more severe in private patient groups like us. Chaos, especially in the early days of the pandemic, disrupted the treatment of our patients. Naturally, our patients feared the transmission of the virus; He refused to go to hospitals. There were a number of problems, from getting a report to printing a prescription.”
Expressing that every study on MPS is very valuable, Muteber Eroğlu said, “Considering that MPS disease is also in the group of rare diseases, we attach great importance to this project in this sense. We know that as awareness increases and becomes more visible, these individuals will be better understood and adapted to social life more easily. The Nadir-X project will make a very important and valuable contribution to us both in this sense and in our ongoing fight against peer bullying.” he said.
What is Project “Rare-X”?
It is estimated that rare diseases affect 6 million people in Turkey. In the world, this number reaches up to 350 million. Another issue that children and families battling with rare diseases are battling is misinformation about diseases and peer bullying. The “Rare-X” Project is a comic book project that pairs children with rare diseases with rare heroes in order to combat misinformation in society.
With the unconditional support of GEN, the first comic book written by illustrator Erhan Candan, under the consultancy of Specialist Psychologist and Pedagog Ebru Şen, to raise awareness about rare diseases, Cystic Fibrosis and Solidarity Association (KİFDER), Cystinosis Patients Association (SYSTINDER) and Duchenne Kas It was started with the Association of Fight Against Disease (DMD Turkey). Within the scope of the project, the second book of the Nadir-X comic will be published in 2022 with its related content on the Association for Combating SMA Disease (SMA-Der), Mucopolysaccharidosis and Similar Lysosomal Storage Diseases (MPS LH) Association and Wilson's Disease.
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