Spinal muscular atrophy (SMA) screenings have been initiated for the first time with the help of the Ministry of Health to help in the early detection of the degenerative illness, with over a million people screened for the disease including infants, adults and couples.
SMA is a hereditary and progressive disease that causes muscles to weaken. It affects many muscles in the body and affects the ability to move over time and reduces one's quality of life.
As a result of this initiative, about 118 newborns were detected with SMA and those deemed suitable for treatment are being treated by the SMA Scientific Committee.
Couples determined to be at risk in terms of their genetics are advised to use in vitro fertilization (IVF) so as not to pass the condition down to their children, with the cost of the procedure fully covered by the state if they wish to proceed with this route.
In a significant milestone in SMA treatment, the first drug that can be taken orally in pill form at home has been developed. Currently, the drug with the active ingredient "nusinersen sodium," which was included in the reimbursement scope for Type 1 SMA patients in July 2017 and Type 2 and Type 3 SMA patients in February 2019, is offered free in Turkey.
Addressing the Planning and Budgetary Committee in Parliament, Health Minister Fahrettin Koca shared the good news that on the recommendation of the SMA Scientific Committee, the process of introducing a second SMA drug that can be administered orally has begun.
In addition to SMA, every newborn in Türkiye is screened for phenylketonuria, hypothyroidism, cystic fibrosis, biotinidase deficiency and congenital adrenal hyperplasia (CAD).
Hearing screenings are also done for infants and free vitamin D and iron supplements are provided.
According to ministry data, with the screening and support programs carried out nationwide, approximately 25,000 babies a year access the treatment they need. These studies are also vital for babies to prevent permanent disabilities.
Koca stated that on Nov. 24, a second drug "Spinraza (Evrysdi Risdiplam)," which received approval from the U.S. Food and Drug Administration (FDA) in August 2020 and the European Medicines Agency (EMA) in March 2021, will also be available for all types of SMA patients older than 2 months in the form of a syrup.
The success of the second drug in syrup form has given hope to families as it has proven effective on babies with SMA. Zeynep Sındıraç, mother of 42-month-old Mehmet Ayaz, a patient with SMA Type 2 who has to receive treatment every four months stated that they applied for the drug Spinraza. "We have to stay in the hospital for three days to receive this drug. If the syrup form is used, we will not have to stay in the hospital and will be able to protect Ayaz from infection," she explained.
Sındıraç says that her son Ayaz, who weighs around 12 kilograms, was diagnosed when he was around 15 months old and that he receives physical therapy at home three days a week and has a certain diet. "I noticed the situation when Ayaz was just 9 months old. His development was very different from his older brother. He couldn't stand holding on to the chair or even a step. He had a developmental delay in his muscles. Ayaz's symptoms matched all of the SMA criteria. Hence, he was diagnosed with SMA and we started his treatment. We have taken seven doses of the Spinraza drug and have applied for the eighth," she said.
Explaining the importance of time when it comes to SMA, the mother said that with every passing minute, muscle loss increases. Though her son receives gene therapy, his ability to walk is only at 52%. "Ayaz keeps asking us why can he not walk like his elder brother and why can he not go to school. We try to convince him that he is still too young to go. It's really hard for us and him but I'm hopeful that with the use of Spinraza, his muscles will reach a certain level. We have to keep up with the time of his medicines as I said earlier, time is very important in this case. We take him to the hospital every four months. It is important for us not to miss a day," she explained.
"Ayaz is trying to crawl. Even if it is for five seconds but at least he does. With our support, he can stand when we hold him by his hips, but he falls when we let go. We make him do standing exercises. Thanks to Spinraza, his muscle loss has reached a minimum level. Unfortunately, in children with SMA, reflexes such as swallowing and chewing are impaired. I see that there are newborns who are kept and fed with devices. But we thank God that he is far better. We have limited time. Anything can happen. If we have a problem with supply, all the progress we have made so far can be lost quickly. Families need to be sensitive about this issue. Screening tests have been started for pre-marital and newborn babies. At least babies with SMA will not be born from now on," she said.
