Duchenne Muscular Dystrophy Symposium Updates Primary Healthcare Professionals
The DMD Symposium was organized by RareBoost at Izmir Biomedicine and Genome Center (IBG) within the scope of Duchenne Muscular Dystrophy (DMD) Awareness Month. The event, organized in collaboration with ‘Hedef DMD’ (Target DMD) project, provided critical information about DMD to primary healthcare professionals. Current treatment methods and therapies in development were discussed to assist healthcare professionals to become more effective in the diagnosis and treatment of DMD.
Rector Yılmaz: We will establish the region’s best rare diseases genome laboratory
Speaking at the opening of the event, Dokuz Eylül University Rector Prof. Bayram Yılmaz highlighted Izmir Biomedicine and Genome Center’s studies on rare diseases. Rector Yılmaz said, “As IBG, we are conducting many studies on rare diseases, especially within the scope of our RareBoost project. We have started to implement our projects within the scope of rare disease diagnosis, treatment and research and development.”
Emphasizing that IBG is Turkey’s most advanced health biotechnology research center, Rector Yılmaz said: “Our physician colleagues in the clinics are suffering from the agony of being able to help rare disease patients to a limited extent. We aim to establish a rare disease genome laboratory within IBG in order to develop treatment opportunities. We aim to establish the best rare disease genome laboratory not only in our country but also in the region. The institutional experience to be gained from IBG’s studies will have critical value in terms of increasing the quality of service to be provided to patients struggling with rare diseases.”
Prof. Topaloğlu: DMD can be seen in every layer of society
Prof. Haluk Topaloğlu, faculty member from Yeditepe University Faculty of Medicine, Departments of Pediatrics and Pediatric Neurology, spoke at the symposium and shared detailed information about the symptoms, causes and treatment of DMD. Stating that social environment, education level or geography do not influence the emergence of the disease, Topaloğlu noted the following: “Since it is a genetic disease, DMD can be seen in every segment of society. DMD is seen in approximately one in every 4,600 – 5,000 boys. Rarely, girls may also have severe symptoms, but they generally do not experience difficulties with the disease and in fact, it is often not even noticed. It is beneficial for mothers who are DMD carriers to go for a check-up once a year, especially starting at the age of 40.”
Prof. Dr. Topaloğlu noted that the rate of DMD in our country may decrease with increasing awareness.
“We want to be a part of life”
Detailed presentations on the care standards and quality of life of individuals living with DMD were also given at the event. Onur Koltuk, who was a special guest in this section and has been struggling with the disease for 20 years, shared the difficulties and experiences of living with DMD. Koltuk, who stated that he was diagnosed with DMD when he was 5 years old, said, “My life was very difficult during my primary and secondary education because my teachers and friends at school were not knowledgeable of this condition. I could no longer walk at the age of 13. However, I never gave up on physical therapy and other treatments. I received great support from my family during this process. I embraced education and graduated from high school with honors. I graduated from university as the top student.” Onur Koltuk stated that the fight against DMD is difficult and that it should be continued without giving up, and said: “I have full faith that a drug will be developed for this disease one day. I have a small request from everyone who listens to me. I hope that people who are experts on the disease will develop projects that will raise hopes and reduce the feelings of loneliness of patients like us, and that awareness on this issue will be raised in society. Because we are a part of life and we want to be in it more.”
