Recovery from SMA Depends on the Carrier Testing

Child Neurologist Prof. Dr. Haluk Aydın Topaloğlu, from Yeditepe University Koşuyolu Hospital Department of Pediatrics, who is a Member of the SMA Scientific Committee, says that getting rid of the disease is possible with carrier testing done before pregnancy:

“Almost every day, a baby is born with the severe form of SMA Type 1. In order to eradicate the disease, we have to perform a carrier test for couples.”

Children with SMA are among the most discussed topics of the recent period. The disease, which was said to have no cure until the end of 2016, is being treated with medication in our country today. Gene therapy is not accepted in our country because there is not enough scientific data.

Child Neurologist Prof. Dr. Haluk Aydın Topaloğlu, from Yeditepe University Hospitals Department of Pediatrics, who is also a Member of the SMA Scientific Committee, answers the important questions.

Can SMA Disease Be Completely Eliminated?

In order to eliminate the disease, it is necessary to have a carrier test for couples. There are very good teams and laboratories working on molecular biology and genetics in Turkey. If a person is not detected as a carrier, then there is no problem. For this disease to occur, both men and women must be carriers. Technologically, it has been possible for 10-15 years to find out whether couples are carriers.

Can People Voluntarily Take a Test Before Becoming Pregnant?

They can go to almost any genetic laboratory and give blood for it. People may not have heard of this disease until now. This test can be done just as other tests are done on couples.

What Kind of Method Do We Follow in the Treatment of SMA?

We introduce the medication into the spinal cord. It performs protein synthesis there. So, the gene is repaired. It is an expensive molecular therapy that the government reimburses. The most important issue here is early diagnosis. In our article published in The New England Journal of Medicine in 2016, we say that treatment should be started when babies are 12 weeks old at the latest. Because by the age of 6 months, 90 percent of the cells in the spinal cord disappear. We have to step in before the cells disappear. This is an important point.

Why is Gene Therapy Not Supported in Turkey?

The medication was administered to about 9600 patients around the world. The number of applications of gene therapy is around 300-350. There is no evidence that gene therapy is effective for older children. Gene therapy is recommended for babies younger than six months of age if the conditions are suitable, that is if the baby's general condition is good. Studies state that it is too late after six months of age.

I understand the pain of families and I am going through the same distress. This should be done in such a way that medical conditions are at their best. Everything that the person needs, such as respiratory requirements, physiotherapy, bone health, nutrition, and orthopedic development, must be provided completely. Vaccines are very important, seasonal flu vaccines should be done. These children need to be followed up frequently and regularly by more than one physician jointly. Neuromuscular centers were established for this.

Families share posts stating that their children rose to their feet, straightened their heads, and took their first step with gene therapy. Are these an improvement?

These are subjective situations, not the observation of scientists. Nothing is miraculous. As far as I know, it has been five years since the first application was made. One of the first 15 children who received the gene therapy passed away.

Are There Not Any Children Who Have Recovered Gene Therapy?

If you are asking whether he/she walks or runs in general terms, no. They tell us that there is only one case, they have been showing the same video of it for 6 years. Other than that, the children are still under control. Some crawl or stand up, but not those who walk. They say these children will walk, and we are waiting.

Is There Anything to Lose If Gene Therapy Is Tried Voluntarily?

We cannot say yes to something we know won't win. Such a thing would be outside of scientific principles. However, meetings are held under the leadership of the ministry to review the data. If there is a new development, then it is approached from a different angle. We are the 3rd or 4th country that has accepted the medication among more than 30 countries. There are still countries that do not accept it.

How Can Children with SMA Regain Health, What Is the Truth?

Children can only be saved by early diagnosis. There may not be a miraculous method to eradicate the disease, it is very difficult to say as a physician, but that's the case. When you say that gene therapy should be given to a four-year-old child who is on a ventilator or close to this condition, unfortunately, it will not help. It is difficult to say these. It concerns a child's future, but I cannot go beyond the truth. Only living conditions can be raised. But if we take action before the baby is born, only then can we eliminate it.