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This disease is a sentence. The affected child cannot survive outside the mother’s body. Anencephaly is classified as a neural tube defect. It is formed in the first weeks after conception, when the nervous system of the fetus begins to form. It is estimated that every year in Poland about 700 children are born with anencephaly. Meanwhile, the occurrence of neural tube defects as much as approx. 70 percent. prevents the intake of folic acid before pregnancy and in the first period of its duration.
Ma’am, we have a problem
Monika, a teacher from Greater Poland, was struck by fate a long time ago, almost seven years ago. In 2007, at the age of 24, she became pregnant for the first time. – I got worried, I started going to the gynecologist privately. At each visit, the doctor assured me that everything was fine with the pregnancy – says the woman. – In the middle of the fifth month, during another ultrasound, my doctor, always talkative and prone to jokes, did not speak at all. Finally he said, ma’am, we have a problem. I froze. I was expecting the worst. What I heard completely broke me.
Then, in the office, Monika found out about the terrible deformities of the head. Subsequent studies left no room for doubt: anencephaly. – I didn’t even know there was such a disease. I’ve never heard of her before – admits the woman.
Anencephaly, professionally known as anencephaly, is a fatal birth defect. It usually occurs in the early stages of pregnancy, between the second and fourth week of pregnancy – explains Dr. Małgorzata Sowińska, gynecologist at the INVICTA Clinic in Gdańsk. – It consists in the lack or very limited development of the brain. It is usually also accompanied by the absence of skull structures or only their residual presence.
Poland in the lead
Anencephaly is one of the neural tube defects, which includes various forms of central nervous system defects. In addition to the anencephaly, they also include a hernia of the brain and spine. According to the Institute of Mother and Child, Poland is one of the countries with the highest infant mortality rates in Europe due to neural tube defects.
Children affected by anencephaly are unable to live outside their mother’s body. If born alive, they usually live for minutes, hours, or weeks. Such a newborn baby has an extremely deformed facial skeleton, a part of the brain is visible, which, due to the fact that it is not covered by the bones of the skull, is exposed to additional injuries and distortions. The child is also affected by defects in the eyeball. He neither sees nor hears, and what vital functions work depends on what part of his brain has developed.
There is only one known case of a child in the world with an anencephaly who survived more than a few months. It was a Brazilian girl, Marcela de Jesus Ferrerira, who was unable to eat or breathe on her own for more than two hours a day. She died at the age of two.
The head is covered with a diaper
Dr. Małgorzata Sowińska says that usually such defects can be detected during ultrasound already in the 12th week of pregnancy, i.e. at the end of the first trimester. What are the recommendations if this happens? – In accordance with the applicable law, in the event of a severe fetal defect being detected, the patient may decide to terminate the pregnancy – explains Małgorzata Sowińska. – This is the case when prenatal tests or other medical indications indicate a high probability of a severe and irreversible impairment of the fetus or an incurable life-threatening disease. Anencephaly is a fatal defect, there are no effective treatments for it.
– Doctors said that I could terminate the pregnancy or carry it on to the end – recalls Monika. But there was no certainty whether the baby would be born alive, or even if it would live for more than a few moments. For several days I struggled with my thoughts. His movements were the worst. He was digging, and I knew that I would not be able to enjoy this child. I decided to induce labor earlier. My son was born in the twenty-fourth week of pregnancy. He lived less than two minutes.
Monika admits that she wondered for a long time whether she really wanted to see him. “I was afraid of the sight,” he says. – I was afraid that I would never forget him and that what I would see would prevent me from trying for another child. But I saw him, I had time to say goodbye. I do not regret it, although I am glad that his head was covered with a diaper.
Folic acid is the basis of prophylaxis
It is estimated that in Poland, per thousand births, on average, one or two children are born with anencephaly. – Unfortunately, the causes of the defect are not fully known. The most common factors that are indicated are complex genetic factors or the influence of the environment, as well as a woman’s lifestyle. Anencephaly is one of the serious defects of the neural tube, i.e. the ovule from which the nervous system develops in utero. It is estimated that an average of 700 children with such defects are born in our country every year – says Dr. Małgorzata Sowińska from the INVICTA Clinic in Gdańsk. She adds that, according to studies, one of the most effective forms of prevention of neural tube defects in the fetus is the regular intake of folic acid by women planning to become pregnant.
– Often, even a healthy diet does not allow for the effective delivery of adequate amounts of this substance to the body of the future mother – warns Małgorzata Sowińska. – For this reason, supplementation is recommended, i.e. taking tablets containing about 0,4 mg of folic acid, at least one month before conception and during the first twelve weeks of pregnancy. In women whose children were born with neural tube defects, the recommended dose can be as much as ten times higher, and amounts to about 4 mg per day.
The Institute of Mother and Child has been running the Primary Neural Tube Defects Prevention Program in Poland since 1997, which aims to popularize the consumption of folic acid in a dose of 0,4 mg by all women of reproductive age, not only those who are already pregnant.
– A thousand questions immediately arose: why me? Why my baby? What did I do to deserve this? What did I do wrong? I only heard from doctors that it happens sometimes – recalls the teacher Monika. – I had no choice but to accept it, even though I was taking folic acid while pregnant. Just in case, my husband and I underwent genetic tests, which, however, showed nothing. I wanted children at all costs, so there was no way out, despite the panic, we started to try again. Today we have two healthy sons.
Tekst: Agnieszka Groza