Support campaigns for the costly treatment of children, including SMAs, are on the rise in Turkey. The treatment of children with SMA abroad and the cost of millions of dollars is the biggest obstacle to the health of the child.
Ministries have been introduced in all the provinces
In February 2021, Mansour Yavas, President of the Ankara Metropolitan Municipality (ABB), took the first step towards a rare disease, spinal muscular atrophy (SMA). ABB, which has signed a protocol with Başkent University, has arranged for SMA testing for couples who get married.
Following in the footsteps of Mansour Yavas, the Ministry of Health has made it compulsory for couples across Turkey to get married for the SMA test. Health Minister Fahretin Koka announced in a statement in December 2021 that SMA tests would be performed before marriage in 81 provinces.
The steps taken by the Ministry of Health to reduce the risk of SMA have also brought problems in practice.
Includes newborns and married couples
Newlywed couples who did not have children later and newborns were also included in the marriage application, as it is important to diagnose the disease in the first year. This situation has brought a serious backlog.
SMA tests in 81 provinces are performed at the Genetic Disease Screening Laboratory of the General Directorate of Public Health. However, the center has been waiting for months for the results of the SMA test as it could not meet the sudden backlog.
What is signed for married couples?
Newlyweds need to get a report from the family doctor at the health center before getting their wedding date. Some tests are done before this report. One of them is SMA test. However, after months of not getting test results, the couple stopped taking the test with a rejection paper signed by the health center. The family doctors also reacted as the test results did not come for a long time.
The couple’s signatures are requested to be kept with the family physician.
Dr Kamhur Ozdemir, director of the Association of Family Physicians, also spoke to Odatvi about the issue.
“The test is very important, but the woman becomes pregnant until the results come out.”
Dr. Kumhur Ozdemir, who started his speech by describing the process of SMA testing, said, “Since the SMA test is expensive, it is first taken from the male wife. If the male is the carrier, it can also be taken from the female. If both are carriers, there is a risk of having a child with SMA. For example, couples are referred to a medical genetic center and this is prevented by treatment. “If the person is not a carrier, there is no risk to the child,” he said.
Explaining the problems encountered during the SMA test, Dr. Ozdemir said, “The SMA test is a very important test. We are very happy to be able to do this. However, we are facing a problem. Before marriage we first take blood from men, but the results come too late. So much so that couples get married or even get pregnant until the results come out. Tell me what happened; The test I took in January hasn’t come yet. Imagine we are in May. The man is married and 5 months have passed. Used phrases.
“The wedding was planned”
CHP MP Mostafa Adgizel, who is also a physician, spoke to Odatvi about the matter and issued a stern warning.
“I also addressed a meeting of the General Assembly of the Turkish Grand National Assembly on February 23, 2021, on the report of the SMA and other rare diseases commission. Screening tests can prevent this disease before marriage and until the child is born. The Ministry of Health did not pay attention. However, the mayor of Ankara Metropolitan Municipality Mansour Yavas was the first to start the process. Finally, earlier this year, the Ministry of Health also conducted a screening test on SMA, which Deputy AdGusel began and continued as follows:
“Couples who are getting married will have to wait a few months to get the test results. There are many complaints about this from all over Turkey. Since married couples are unable to reach the test results in time, all their plans are turned upside down. Indeed, it has become a topic of discussion that doctors at health institutions conduct tests. There are couples who are married and pregnant while waiting for test results. In fact, how can a test that gives results in one day not give results in 3-4 months? In other words, although after all these efforts, the possibility of routine testing was finally provided, this time the application problems bothered people. “
“Where does the test kit come from?”
Mustafa Adguzel said that 600,000 marriages take place in Turkey every year and he would ask Health Minister Fahretin Koka where and how many SMA test kits were purchased and used the following statements:
“There are 600,000 marriages a year in Turkey. About 3,000 tests are needed each day. It was said that when the Genetic Disease Screening Laboratory was opened in the body of the Public Health Institution of Turkey, it fulfilled this capacity. In our study, in addition to newlyweds, newborns and married couples who want to have children were also informed that there was a barrier, since the application began at the same time.
There is information that test kits have been obtained from the State Supply Office. Whether there is any problem in this process, origin of test kits and devices, from which company or companies they are supplied, what is the unit price and we will submit it to the Ministry of Health. .
We will continue to follow and emphasize the speedy completion of this testing process and the inclusion of new SMA treatment modalities that are not yet within the scope of payment. We had a discussion with the Minister of Family in the General Assembly on my proposal regarding allocation of funds for SMA treatment and transfer of TRT portion of electricity bill for treatment of SMA affected children. With our insistence and the example of the Ankara metropolitan municipality, the government builds a road, but makes it random. Although it is possible to develop this process through the experience of Rafik Saidam Hygiene Institute, enriching it with a contemporary approach and bringing it to a level that will meet the needs of the country, there is still confusion in the management of the process, as is the case with vaccine production. At TUSEB, which was recently established, top management has resigned due to inadequate attention and mistakes in management, administration and administration. Refik Saydam stopped and TUSEB calmed down and we entered the epidemic process. In the meantime someone took the goods. Let’s see which anchor will come out of the weakness of this SMA testing process. ”
What is SMA disease?
SMA (spinal muscular atrophy) affects motor nerve cells in the spine, eliminating the ability to walk, eat, or breathe. It is the number one genetic cause of death in children. SMA survival occurs due to mutations in the motor neuron gene 1 (SMN1).
In a healthy person, this gene produces a protein that is important for the function of the nerves that control our muscles. Without it, these nerve cells cannot function properly and eventually die, leading to weak and often fatal muscle weakness.
There are four main types of SMA based on starting age and achieving maximum physical milestones: I, II, III and IV.
Spinal muscle atrophy (SMA) is not just a condition, it is a set of diseases. When combined, different types of SMA form the second leading cause of neuromuscular disease.
SMA is found in 1 out of every 6,000 to 10,000 live births. It is the second most common malignant autosomal recessive disease after cystic fibrosis.
People with SMA have difficulty performing basic tasks in life, such as breathing and swallowing. However, SMA does not affect a person’s ability to relate, think and learn with others.