“Since I was little I came to consider what others considered me, a chronic patient. Any scratches or colds were treated as if life were in it… ”(Gattaca)
Álvaro's story reminds us of "Gattaca" yes, it is inevitable. Genetic manipulation as the natural selection of the individual as decided by a less and less humanized society. But Álvaro's story is very human, he is the first child in Spain who thanks to genetics will not suffer Escobar syndrome And that has also been thanks to genetic manipulation.
Escobar syndrome is one of those diseases considered very rare, with all that that entails. It affects very few people in the world so very little is investigated about it although it can cause significant malformations and in especially severe cases, such as this one, that the fetus is never born alive.
Álvaro was destined to have suffered it since his parents, without being aware of it, are carriers of this disease. Each has a different mutation in the same gene, this is something that affects the fetus in 25% of cases.
Before his birth Alvaro his mother became pregnant three times and in all three the fetus brought a congenital malformation. Considering that Alvaro has a completely healthy older brother of just over six years, nobody understood anything.
Chance, bad luck, these things that happen ... were all the reasons they found until commenting on it at work, Álvaro's mother heard about companies that develop genetic analysis and contacted them.
The preimplantation diagnosis of the embryo has become an increasingly frequent and widespread practice among couples who want to have children, for different reasons. At the moment there are several companies that offer it and each one covers a certain number of ailments.
With this preimplantation diagnosis it has been achieved in Spain that babies did not suffer from more common ailments such as stroke to others considered very rare such as multiple exostosis.
After studying the case and locating the biological tests to extract the DNA from both, They verified that there were two mutations in the gene responsible for Escobar syndrome. In her ovules the mutation of the gene affects 50%. It's not a lottery, it's not bad luck, it's a terrible reality that they were facing.
Once the problem was located and given its age and a pathology that damaged the quality of the sperm, they underwent a fertility treatment.
In the clinic sperm were selected with the intact DNA and ovules were fertilized with them, until finally get 14 embryos of which only one was completely healthy, exempt from harmful mutations.
This only embryo was already Álvaro, he was implanted to his mother as in any usual fertilization process and on January 15 a completely healthy baby was born, with nothing to remind those mutated genes that seemed to have been put against him.
About twenty experts have been working for 18 months to successfully complete this process, a process that Álvaro's parents have cost around € 20,000 but has assured them that their son was not going to suffer from a disease listed as Very rare because of the genes of their parents, a demonstration of what science can do for the quality of life of people and therefore, for their happiness.
