In order to draw attention to rare diseases, the Nadir-X project, which transforms the rare aspects of children with rare diseases into a strong feature and makes them the protagonists of the stories, continues with the unconditional support of GEN. The project, which will feature SMA in its second comic, aims to raise social awareness with stories bearing traces of children's daily lives. As part of the project, Prof. Dr. While Kürşat Bora Çarman gave important information about the disease, Ece Soyer Demir, Vice Chairman of the Association for Combating SMA Disease, talked about the needs of patients and their relatives and evaluated the importance of Nadir-X.
SMA is a disease that causes muscle weakness and weakness as a result of damage to motor nerve cells in the spinal cord. The most common and most severe form of the disease, which has 4 types, is Type 1 SMA. Type 2 SMA disease, on the other hand, is a milder form and generally occurs after 18 months in infants, while Type 3 and Type 4 SMA disease are the types that occur at later ages.
Giving information about the symptoms and treatment of SMA disease, Prof. Dr. Kürşat Bora Çarman emphasized that thanks to today's medical facilities, both early diagnosis is possible and the risk of carriers in parents can be determined.
ÇARMAN: “SMA IS A GENETIC DISEASE”
"SMA is a genetic disease that arises in the child to be born from them as a result of a mutation in the genes of the mother or father," Prof. Dr. Çarman drew attention to the fact that one or both of the parents were carriers at the onset of the disease. At this point, it is very important to screen couples for carriers before they have children. prof. Dr. Regarding the prevention of the disease, Çarman said, "If a risk is seen in the screening, these couples can be directed to the in vitro fertilization method and they can have a healthy child."
Emphasizing the importance of newborn screening programs, Prof. Dr. Carman emphasized the importance of early diagnosis by saying, "The diagnosis can be made and treatment can be started with the neurological examination and genetic analysis to be performed in the newborn period."
WHAT ARE THE SYMPTOMS OF SMA DISEASE?
Stating that the symptoms of SMA disease vary according to the types, Prof. Dr. Carman said that the findings are actually present from birth, but may become more pronounced over time.
“Babies with type 1 SMA cry weakly and with a high pitched voice at birth, cannot move their arms and legs enough, cannot gain skills such as neck control and sitting, and cannot walk. While Type 2 patients cannot walk even if they can sit on their own, in Type 3 patients, even if they have walking ability, this ability may worsen and lose over time. Dr. Çarman warned the families about the symptoms. Underlining that parents should definitely consult a doctor if they see these symptoms in their babies, Prof. Dr. Çarman emphasized that thanks to early diagnosis, one of the current treatment methods can be started in a short time.
IS THERE A TREATMENT?
Stating that he has been using drugs approved by the Ministry of Health for the treatment of SMA disease since 2017, Prof. Dr. Çarman added that they predict that these treatments will diversify and become more widespread.
DEMİR: “MEDICATION IS NOT THE ONLY MISSING OF SMA PATIENTS”
Ece Soyer Demir, Vice Chairman of the Association for Combating SMA Disease, emphasized that with the introduction of these treatments, it became clear that the only thing missing in the life of patients was not medicine. Stating that as an association, they continue their activities to produce projects to identify and meet these needs, Demir explained that they also carry out important studies to inform the relatives of the patients.
Speaking as "We saw that one of the important steps to improve the quality of life of patients is to increase the level of knowledge of families," Demir added that they shared and carried out projects that would guide families both to prevent information pollution and to be prepared for unforeseen situations with their projects.
Stating that they are trying to provide medical equipment and medical supplies to families in line with their possibilities, Demir also stated that they are working to include surrogacy and newborn screening program, PGD in vitro fertilization method and home physical therapy support within the scope of SGK.
According to the information they received from the Ministry of Health officials; Pointing out that there are approximately 2.000 SMA patients in Turkey with new diagnoses, together with patients who did not seek treatment, Demir underlined that being under the umbrella of an association is very important for families in order to share information and feelings, and to benefit from each other's experiences.
FAMILIES MUST HAVE PSYCHOLOGICAL SUPPORT!
Pointing out that psychological support is also very important for parents whose babies are diagnosed with SMA, but this is secondary due to financial inadequacies, Demir said, "As an association, we tried to support the sick mothers by starting a group counseling online during the pandemic process."
A HERO WITH SMA IN NADİR-X!
Speaking about the Nadir-X comic book project, which makes children with rare diseases the protagonists, Demir said, “I liked the book very much, I found it very meaningful that children with a rare disease are the main protagonists of the story. One of the stories in the second book of Nadir-X will be about a child protagonist with SMA. I think that this study will be very effective in providing accurate information about the disease. At the same time, increasing the recognition of SMA in the pediatric age group and showing how strong the patients are are among the points we want to emphasize with this project.”
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