Turkish SMA Foundation Highlights Importance of Preventive Healthcare Services During SMA Awareness Month

Türkiye SMA Foundation will conduct activities throughout August to raise awareness of SMA and emphasise the importance of heel prick testing, one of the most critical screening tests for disease prevention.

SMA (Spinal Muscular Atrophy) is, in its broadest definition, a progressive and hereditary muscle disease. It has four different types from infancy to adulthood, including the commonly known and severe type 1. In Turkey, it is estimated that there are approximately 3,000 SMA patients in total. Of the three drugs used to treat SMA worldwide, two are covered by reimbursement in Turkey. Although the disease may seem distant to us, the fact that one in 50 people in our country is a carrier demonstrates the importance of increased awareness about SMA.

August is recognized worldwide as SMA Awareness Month. Türkiye SMA Foundation will conduct awareness activities during August SMA Awareness Month to communicate what can be done to prevent the disease and what is necessary for patients to maintain a stronger grip on life. The Foundation will also draw attention to heel prick testing, used in newborn screening as an evidence-based public health practice that enables early diagnosis of diseases.

SMA is a Preventable Disease
Since 27 December 2021, couples wishing to marry and married couples planning pregnancy in Turkey have been able to undergo free SMA carrier testing at family health centres. According to 2023 data, Türkiye SMA Foundation Vice Chairman Ece Soyer Demir stated that 1 million 834 people were screened and in 22,573 couples carrier status was suspected. "My husband and I did not know we were carriers until our son was diagnosed with SMA. If we had known beforehand, our lives would have been very different," she said.

Demir, who described how they came to know the disease closely through the struggle of their son, who was diagnosed with SMA at two months of age, used the following words: "SMA is a progressive disease characterised by weakness and wasting of voluntary muscles. Parents who are SMA carriers show no signs of the disease. However, in each natural pregnancy, there is a 25 percent chance the baby will be born with the disease. For this reason, carrier status is not detected without genetic analysis. Carrier testing enables couples to have children in a conscious and prepared manner."

Heel Prick Testing is an Evidence-Based Public Health Practice
Ece Soyer Demir draws attention to the fact that heel prick testing used in newborn screening, although sometimes targeted by negative comments, is an evidence-based public health practice that enables early diagnosis of diseases.

Foundation Vice Chairman Ece Soyer Demir, stating that "heel prick testing plays a critical role in early diagnosis of SMA as well as many other diseases," further said: "The greatest harm to public health in this matter comes from comments devoid of scientific basis. Articles 25 and 26 of the United Nations Convention on the Rights of Persons with Disabilities clearly state that access to health services for persons with disabilities is a right and that early intervention programmes must be implemented. This test performed during the newborn period enables the baby to be diagnosed without showing symptoms. This means early access to treatment, better development and a stronger life. Statements not based on scientific data endanger our children's right to health. From this perspective, preventive health services are not an option but a public responsibility. As Türkiye SMA Foundation, we believe that awareness begins not only with information but with responsibility, and we will continue to advocate for every individual's right to healthy living in light of scientific evidence.

Türkiye SMA Foundation will continue to conduct various campaigns and awareness activities throughout August SMA Awareness Month to expand testing, clarify misconceptions and raise public awareness about carrier status.