Together We Can Project Comes to Life

Together It's Possible Project Launches The "Together It's Possible" project has been implemented under the leadership of Roche Pharmaceuticals Turkey, with support from SMA Walk With Me, the Association for Fighting SMA Disease, and KASDER (Turkish Muscular Diseases Association). Highlighting that SMA is a preventable disease, the project aims to provide expert opinions, physiotherapy, psychological support and other solutions for patients and their families under a single platform. The project is conducting collaborative work with stakeholders to raise public awareness about SMA prevention screening programs and pre-marital tests. A digital platform is being launched as part of the project to disseminate current and accurate information about SMA disease. The platform will consolidate expert opinions, physiotherapy, psychological support and other solutions for proper diagnosis of SMA, and will also provide patients and their families with information and resources they may need during the course of the disease.

Two Thousand SMA Patients in Turkey

Uğur Cem Gürpınar, General Secretary of the SMA Walk With Me Association, states that SMA disease must be addressed with an interdisciplinary approach and that the Together It's Possible project will produce rapid and beneficial solutions in this regard. Gürpınar stated: "Taking into account that the likelihood of occurrence in our society is also high, through screening tests performed on at least one member of couples, it is possible to prevent this disease. It is equally important that patients and families are psychologically strong and can be integrated into society to maintain their lives independently. Everyone must be aware that SMA is a serious, progressive and fatal disease. Fighting this disease involves many stakeholders. We believe that the Together It's Possible project will contribute to producing the fastest and most beneficial solutions for all these stakeholders and families," he explained. Ece Soyer Demir, President of the Association for Fighting SMA Disease, provided information about the frequency of SMA and screening tests performed for early detection of the disease. Ece Soyer Demir stated: "According to information obtained from the Ministry of Health's General Directorate of Health Services, Department of Autism, Mental Special Needs and Rare Diseases, there are approximately 2,000 SMA patients in our country. For genetic hereditary diseases including SMA, Preimplantation Genetic Testing (PGT) and In Vitro Fertilization (IVF) treatments enabling carrier couples to have healthy children were covered by social security reimbursement with the announcement (SUT) published in the official gazette on 11 August 2021. I believe that the inclusion of SMA carrier screening tests in the national screening program before marriage or pregnancy, directing couples identified as carriers through genetic counseling to Preimplantation Genetic Testing, and raising public awareness about consanguineous marriages and their risks will significantly reduce the incidence of the disease," she said.

If Both Parents Are SMA Carriers, Children Have a 25 Percent Risk of Being Affected

Nagihan Sadıklar, General Secretary of KASDER, stated: "As KASDER and together with other stakeholders gathered under the Together It's Possible project umbrella, we have long emphasized that SMA disease is preventable. Screening tests, one of our project's activities, have an important function in terms of preventive interventions. Since genetic transmission of SMA requires both parents to be carriers, individuals often may not know they are carriers, and this disease may not appear in recalled family histories. However, when two SMA carrier individuals have a child, the risk of the child being affected is 25 percent, and this risk repeats with each pregnancy," she explained. "Fighting SMA disease requires holistically designing and implementing preventive efforts on one hand and treatment, supportive services, and rehabilitative activities aimed at improving quality of life for SMA-affected children and adults on the other. Through our long-standing work at KASDER, we have observed that awareness and education are indispensable components of this process. Families face a challenging period from the moment an SMA diagnosis is made. For these reasons, we are working carefully on transferring information to the public, creating and maintaining awareness. The Together It's Possible project has been launched as a meaningful project that carries its message in its name. As stakeholders working specifically in SMA disease, we have drawn a roadmap within this project framework by bringing together our accumulated knowledge and experience. An important part of this roadmap is raising public awareness about SMA disease prevention and directing people to the correct channels. As KASDER, we eagerly look forward to seeing the positive outcomes of the Together It's Possible project among the public." Content and services featured on the "Together It's Possible" project website and social media platforms are provided with the contributions of institutions and organizations that are experts in their respective fields. On the "Together It's Possible" platform, initially referenced medical and current information, particularly on pre-marital screening, publications for patients and their families, physiotherapy videos, remote psychological support, and information about patient rights are available. The platform is planned to be developed with different concepts and content.