Severe combined immunodeficiency, better known as bubble child syndrome, is a disease that only boys suffer. Girls, although they may be carriers, do not suffer from it.
It is for this reason that couples who wanted to have children and in which the woman carried the disease used to have only girls. Now, thanks to a new technique, it has been born in Madrid on first male child free of bubble child syndrome.
The finding has been made at the Jiménez Díaz Foundation and has been made possible by pre-implantation genetic selection, or what is the same, the possibility of analyze the genes of the embryo to see if it was affected by the disease. To date, the most that had been achieved was that healthy girls were born, without even being carriers (only three cases in the world), and before them what was simply done was to select the girls to avoid suffering from the disease, even at the risk that they were carriers.
Well, with the family protagonist of the news the technique could be done and get them to have a healthy male baby. The mother is the carrier of the disease and had already had a healthy girl. Then there were two pregnancies of male children, for whom prenatal diagnostic tests were done in the first weeks, resulting in both fetuses having the disease (half of the children suffer from it and the other half do not). The couple decided to abort in both cases.
Given the family's history, it was decided to try genetically select a healthy male, to avoid the possibility of a new pregnancy and perhaps a new abortion. For this they subjected the couple to a cycle of in vitro fertilization. They extracted one or two cells from the resulting embryos and made a genetic study to determine the altered gene. Thus they could see which were healthy and which were not and thus implanted in the mother those embryos that did not have the disease.
Now that the child has been born, the parents are delighted, because they already thought they were not going to have more children and even less thought they could be a boy. Thanks to the technique now they have a healthy baby who does not suffer from the rare disease of bubble child syndrome, which suffers one in every 100,000 children, which consists of a serious affectation of the immune system that causes many children not to live more than two years, due to the risk of infections that have no possible pharmacological treatment (pneumonia, viral meningitis, skin infections, etc.).
I know that selecting embryos to determine how a baby should be is ethically tricky. However, in cases like this, in which rare diseases are avoided without treatment, I position myself in favor for one simple reason: if I were the father and could choose between having a child with such a disease or not having it, I would also undergo such treatment.
