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HIBM-GNE Myopathy İstanbul at İstanbul University

Written by: Çağla KONAT/ Istanbul University Directorate of Advertising and Public Relations

Translated by:  Roberta Çirişyan

The first ever HIBM-GNE Myopathy İstanbul Meeting was held on 7 May 2018, at Rectorate of Istanbul University Doctorate Room, in cooperation with the Directorate of Istanbul University Disability Research and Implementation (ENUYGAR), Turkey Muscle Disease Foundation (KASDER) and The Neuromuscular Disease Foundation (NDF).

The opening speeches of the programme were made by Prof. Dr. Resa Aydın - Director of Istanbul University ENUYGAR, Prof. Dr. Coşkun Özdemir - President of Turkey Muscle Disease Foundation, and Dr. Süleyman Kuş – NDF, Turkey Certified Patient Advocate.

 

“My biggest desire is to live our lives without disability”

Prof. Dr. Resa Aydın - Director of Istanbul University ENUYGAR started her speech by indicating this meeting has been organized in cooperation with ENUYGAR, KASDER and NDF and also thanked to Dr. Süleyman Kuş who is the creator of this meeting, KASDER and NDF.  Prof. Dr. Aydın carried on her speech as follows: “I thank our speaker and session moderator teachers for accepting. I also thank the precious participators who came from long distances and turned this organization into a real meeting. My biggest desire is not only for GNE Myopathy patients but also for the others living with muscle diseases to live their lives without disabilities and with the existence of the curative medical agencies.”

 

 “The aim of the meeting is to increase awareness for GNE Myopathy”

Dr. Süleyman Kuş, NDF Turkey Certified Patient Advocate, gave this statement: “I was diagnosed with muscle disease last year. According to the studies, the duration to get a diagnosis for the muscle diseases is at least 10 years. As a patient, I think that an exact diagnosis is very important. Because I became extremely interested in GNE Myopathy, last year I decided to attend the NDF symposium for this disease in Los Angeles.  There, I had the chance to listen to doctors who are doing trials for GNE Myopathy. After I came back to Turkey I started looking into having a meeting in which only GNE Myopathy would be the subject. By getting into contact with KASDER and IU ENUYGAR, we made the connection and plan this way, this is the reason we are all here today.  The aim of this meeting is to increase general awareness of GNE Myopathy, which is a rare disease in private sector. The expectation of our patients is a treatment but we must wait for now. And, unfortunately this would not happen in short time.”

“Raise the awareness your doctors about GNE Myopathy”

NDF CEO/Executive Director, Lalé Welsh, mentioned in her speech: “We are a small foundation in the U.S. Initially, we were thinking that this disease was regional and could be found only in the roots of the Iranian people. Later on, we had the opportunity to meet patients from all over the world. Thanks to our patient advocates we found three centers. My goal is to share the messages increasingly. I request you to raise awareness about GNE Myopathy with your doctors during your next visit.”

 

 

 “First time this year, a gene transfer is made to a muscle disease patient”

Prof. Dr. Coşkun Özdemir, President of KASDER, in his speech mentioned: “With some coincidences I was interested in muscle diseases in early years. It has been more than 60 years and my interest continues. I have been to Denmark in 1963 for a rehabilitation course. There, I learned a lot. I followed the things that they have done with envy. Because one of the things that I saw was that wherever I went there were disabled people. I learned a term that is called “social disability”.  I embraced it so much and wrote about it many times. The World Health Organization terms include physical, somatic, psychologic and social disabilities. It is accepted that in Turkey there are 8.5 million disabled people. To me, we have to include millions of socially disabled people. At first my interest was to establish the Neuromuscular Diseases Department in ÇAPA (Istanbul University). Now we are known as the Turkey Muscle Disease Foundation and we trying our best. I guess it should not be underrated what we are doing with this small group of people. I hope in the future there will be big developments as there are today. First time this year, a gene transfer is made to a muscle disease patient. If it succeeds, it may be successful for the other muscle disease patients.” 

After the opening speeches, Prof. Dr. Resa Aydın, the Director of Istanbul University ENUYGAR, awarded plaques to the speakers.

 

HIBM-GNE Myopathy İstanbul Meeting was followed out with two sessions.

 

The first session was held under the presidency of Prof. Dr. Piraye Oflazer and Dr. Vildan Yayla;

Prof. Dr. Piraye Oflazer presented “Clinical Discoveries and Review in GNE Myopathy”,

Prof. Dr. Stella Rosenbaum presented “Genetic Studies in GNE Myopathy”,

Dr. Serdar Ceylaner presented “Genetic Studies in Turkey for GNE Myopathy”

 

The second session was held under the presidency of Prof. Dr. Ayşe Yalıman and Prof. Dr. Resa Aydın;

Prof. Dr. İpek Yeldan presented “Physiotherapy in GNE Myopathy”,

Prof. Dr. Zohar Argov presented “GNE myopathy: enigmas and unmet needs”,

Dr. Nuria Carillo presented “New Developments in GNE Myopathy”

 

After the sessions, patient experiences were shared with the participation of physiotherapist and dietician which took place in KASDER

Roberta Çirişyan talked about her “Stem Cell Experience”, after that Dietician İdil Ediboğlu informed the participants about “Diet and Weight Control in GNE Myopathy”. Lastly, physiotherapist Altan Avcı, discussed the “Importance of Physiotherapy and Practice”.

 

This concluded the Turkish Patient Day Meeting. 

See photos from the event here