In March, EB's dedicated Turkish representative, İlker Bıyık of İzmir, told Today's Zaman, “The ultimate dream of Turkish EB sufferers has been to have sufficient funds to form an association like DEBRA, the Dystrophic Epidermolysis Bullosa Research Association (www.debra-international.org), which has active regional branches in Europe and offices in London and the United States.” Bıyık has told Today's Zaman that his dream has been realized. There is now a Turkish branch of DEBRA, and he is the spokesperson. (http://www.debra-international.org/index.php?id=141). The translation of Today's Zaman's articles into Turkish for the sister paper Zaman has helped drum up an informational and supportive response around Turkey. Thanks to Bıyık's efforts and perseverance, (he suffers from one type of EB himself) over 100 Turkish patients have been identified, and their symptoms and different forms of the disease have been clinically classified. Previously, the way people were diagnosed with EB and its elusive variants was more of a guessing game. Bıyık has spearheaded the classification of the disease and the record keeping of patients all over Turkey and also started a blog in Turkish.
Putting aside outward symptoms, EB is a hugely complex disorder. It involves clinical mutations in at least 10 structural genes of different sub-types. It is further complicated since no cure has been found, though they continue with genetic research. More recently, stem cell research, wound healing drugs, chemotherapy and topical treatments have offered a ray of hope. Some of these are in advanced clinical trials in the US. Globally, EB affects approximately 500,000 people, about 20,000 of them in the United States, and children are especially vulnerable.
Online support and discussion groups for people with rare diseases are essential. Companionship and solidarity bring comfort and, for some, sharing stories and discussing treatments bring relief. For isolated sufferers, just knowing you are not alone is a critical remedial factor. Being a member of an international group also helps to generate sponsorship, research money and access to information about recent advances. In the United States, Recessive Dystrophic Epidermolysis Bullosa (RDEB) patients have been recruited for advanced clinical trials concerning stem cell transplantation that may offer real hope to thousands. But dreams mark the beginning of the road, and with international notoriety, Bıyık hopes to exceed his dreams. He can be contacted at munzevi76@hotmail.com.
