Stating that DMD (Duchenne Muscular Dystrophy) disease is a chronic progressive disease, Neurology Specialist Dr. Gültekin Kutluk said that regular follow-up is of great importance to improve the quality of life of patients.
Baran Köseoğlu, the General Secretary of the Duchenne Muscular Disease Association, stated that the "Nadir-X" project, which was created to raise awareness of rare diseases, is of great importance in terms of understanding DMD patients at school age better by their friends.
Saying that DMD is a genetic disease that causes progressive muscle breakdown and weakness in children between the ages of 3 and 5, Neurology Specialist Dr. Gültekin Kutluk and Baran Köseoğlu, General Secretary of the Association for Combating Duchenne Muscle Disease, made important statements about the disease.
Stating that DMD is a genetic disease that is seen in 3500 out of every 4000-1 boys and girls are carriers, Neurology Specialist Dr. Gültekin Kutluk said, “DMD is a recessive genetic disease related to the X chromosome. It can occur without genetic transmission, ie without family mutation. That's why genetic counseling is of great importance. Only in this way can this disease be prevented in the next generations. " he spoke.
Underlining that DMD is a progressive muscle disease, Neurology Specialist Gültekin Kutluk said, “First, they have walking problems, difficulties in climbing stairs and slopes, and they start using wheelchairs between the ages of 10-12. During the teenage years, help is needed to move the arms, legs and body. Generally, in the 20s, respiratory or cardiac problems become more prominent. " found in the description.
Families of children diagnosed with DMD need genetic counseling
Saying that DMD unfortunately has no known cure yet, Neurology Specialist Dr. Gültekin Kutluk explained the possibility of prenatal diagnosis of the disease as follows: “It is impossible to prevent the emergence of the disease in a child born with a gene mutation that causes DMD. However, mothers who know that they are DMD carriers can undergo a genetic test and have their baby tested for DMD while pregnant. These tests give accurate results up to 95%. It is important that families of children diagnosed with DMD receive genetic counseling. In this way, they can have healthy children with pre-pregnancy IVF method. During pregnancy, genetic diagnosis can be made by cordocentesis or amniocentesis depending on the week. "
Neurology Specialist Dr. Gültekin Kutluk concluded her words as follows: “DMD is a chronic progressive disease. Regular follow-up is of great importance to improve the quality of life. The process can be slowed down with early treatment and physiotherapy. The child can swim once a week. In addition, passive exercises, walks, cycling can be beneficial. In order not to gain excessive weight, it is of great importance that they follow a balanced diet. In order to get protein, they need to consume milk and dairy products in abundance, and avoid foods such as carbohydrates, sugar and chocolate that give excess calories. Regular sleep takes an important place. In addition, it is very important for the cognitive development of the child not to detach children from social life and not to isolate them from society. They should continue to attend school as long as they can. It should not be forgotten that the gene therapies that have been studied recently show great hope. "
Baran Köseoğlu, General Secretary of the Association for Struggle Against Muscle Disease, stated that they were included in the "Rare-X" project, which was created to raise awareness of rare diseases, said, He stated that they aimed to get support from their friends.
Baran said that around 5000 DMD Köseoğlu in Turkey, "the most important activities we do as an association, we give each other moral support and solidarity with the families of our group. Here, we share the troubles of our families who are newly diagnosed, who have come to an impasse, cannot cope with their troubles, and we try to solve the possible ones. DMD patients and the hospitals they go to make adequate disclosure in more relatives, non-implementation of international standards of care in Turkey, every hospital complain about the care and treatment protocol to be different from each other. " said.
DMD patients suffer greatly during the pandemic period
Stating that DMD patients experienced different problems during the pandemic period, Baran Köseoğlu continued his words as follows: “We have children with DMD whose controls and care could not be done properly due to the closed clinics, who could not reach the medicines for their treatment on time, who could not go to physical therapy and swimming and whose condition was thoroughly impaired. Our regulations and laws in Turkey because of difficulties but differ in every hospital in the point of application of international standards can be experienced. We have seen the importance of standardizing treatment during the pandemic period. "
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