This neurodegenerative disease has 300 affected in Spain. 37 have died in the same town, Segura de la Sierra in Jan. The Basque Country, together with this town in Jaen, concentrates half of the world’s cases of this pathology. It is a generally hereditary disease, so all of them are descendants of the same initial carrier. Affected relatives demand that research be started to find a cure or treatment. Thus, They have created an association to raise funds to help research this disease, even without a cure or treatment.
The first cases were reported in 1968, when only 25 families in the world were known to include the mutated gene in their DNA. It would not be until 2005 when they began to be detected in Spain, with 24 cases from 14 families, the most prevalent. Rosell, García and Rodríguez in the autonomous communities of Navarra, Murcia and the Basque Country.
It is a very rare disease which makes it difficult and prevents the brain from entering REM phase, which causes the individual to not rest properly and ends up dying within a period of between 9 and 12 months. Symptoms usually begin in adults, who begin to experience progressive insomnia, fever and tachycardia, weight loss, lack of appetite, coordination difficulties, and/or dementia. Other possible symptoms are hallucinations or self-harm.
In the live of TardeAR Some affected people spoke, such as Pilar, who has already had to face the death of five uncles and two nephews or Juana, who lost her husband and does not know if her son can have the same gene.
Embryo selection: the only solution
For now, the only way to treat this disease to prevent it from affecting future offspring is to undergo fertility treatment in which the embryos are studied to find out if they will be healthy. If a person carrying this mutation has two children, each child will have a 50% chance of developing this disease. says Joaquín Castilla, research professor at the Ikerbasque center, the Basque Foundation for Science (CIC bioGune) on the TVE News. Castilla adds that this could be avoided in the event that there are no offspring with that mutation. and the only way to achieve this is embryonic selection.
The embryonic selection It is an assisted reproduction process in which the embryos are selected to be the most suitable at a genetic level before being implanted in the woman’s uterus. Nonetheless, Social Security only covers these cases in the event that the parents have been previously diagnosed with this disease. and many of them have not undergone any test for fear of having to live with it, such as the example of Sonia and her daughters, who do not want to undergo the test for fear of knowing the result.
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