"Surviving. Doing everything possible and more to get ahead." This is how Queralt Guix and Joan Torres describe their situation, in which their two sons, ages 10 and 8, Anton and Andreu, suffer from a rare genetic disease caused by mutation of the ADSL (Adenylosuccinate Lyase) gene, which causes mental and psychomotor retardation, lack of speech and epilepsy in the two brothers.
Recently, this family from Cambrils (Tarragona) has started a crowdfunding campaign together with the Institute of Neurosciences of the Autonomous University of Barcelona and the Research Institute of the Vall d'Hebron hospital. The intention is to raise funds to finance the study of this disease in the hope of finding a cure. Information about this pathology is very scarce, since there are only about 80 cases worldwide, although it is also believed that there are more undiagnosed cases.
In the case of Anton and Andreu, Guix considers epilepsy “the most serious symptom”, since although they take medication it does not prevent them from suffering seizures. Furthermore, the fact that they do not speak makes their task as parents very difficult: “We don't know what is happening to them, if they are well, if they are hot or cold, it is a complicated situation.”
In general, the mother relates this fact as a “situation that you did not expect and did not want,” and regrets the circumstance that they have had to live through: “As parents, as a family, it is very sad, because there are things that you cannot do like in any other”, referring to activities such as going out or traveling, which become complicated or even, in the case of the second, have practically stopped doing.
Apart from that, the parents explain that the diagnosis did not come until just over two years ago, in August 2021: “At first they did MRI, karyotypes (a test that analyzes the size, shape and number of chromosomes in a sample of cells from your body), fragile This fact meant that for a long time the response that the two brothers received to their pathology was a generalized developmental disorder.
Finally, it ended up being the last test carried out in the medical protocol, a genetic study known as the exome analysis, where the doctors were able to diagnose the minority disease that Anton and Andreu suffered. However, Guix describes this entire process of tests and analysis that her children had to undergo as “a very long road.”
Regarding the study, Dr. Miguel Chillón, researcher in charge of this project, warns that ADSL deficiency is a progressive disease, a fact that makes him classify the research as “a race against time” because “as the disease progresses it can "There are brain structures that can no longer be recovered."
The treatment proposed in this research is known as gene therapy. The goal is to “stop this ultra-rare disease and its neurological effects,” explains Chillón, and is based on introducing, with a single dose and through viral vectors, the correct copies of the gene into the neurons. This, however, is the last step of a research that requires many previous stages: taking the patients' cells and generating stem cells, generating an animal model and analyzing the therapeutic capacity of the treatment on this basis or, finally, requesting a trial. clinical to be able to apply it with patients.
The researcher assures that “gene therapy strategies are hope for these families,” and reasons why not only in this research: “With a genetic-based disease, the treatment has to be genetic, otherwise what you do is cure the symptoms but not the basis of the disease.
Finally, both the family and the research group are very clear that the main reason that makes it difficult for the study to be produced is money. At the moment, the collection exceeds 6,500 euros and although it is far from the final figure, which according to Dr. Chillón would be above 300,000, the family appreciates the support received. Furthermore, he values the response of the people as “positive” and emphasizes that “it is also very helpful to make this type of minority diseases visible.”
