On 9 April 2016, when she was just 12 years old, Marta Huertas was admitted to emergencies with convulsions. After many tests and several weeks in the intensive care unit, she was diagnosed with herpesviral encephalitis, an inflammation of the neck caused by an extremely serious, potentially fatal infection. The disease, which is considered rare, with an incidence of just one person per 250,000 to 500,000 people a year, caused Marta cognitive impairments, such as memory and attention span disorders. However, her journey did not end when she was discharged from hospital, as she then suffered from post-herpes autoimmune encephalitis, a secondary complication even more infrequent and devastating.
The intervention of Josep Dalmau, ICREA researcher and head of the IDIBAPS Pathogenesis of autoimmune neuronal disorders group, and Thaís Armangué, a researcher in Dalmau’s group and head of the Neuroimmunology Unit at the Hospital Sant Joan de Déu, was key to resolving the case.
The documentary Mirar al miedo [Looking at Fear] tells the story of Marta and her family, as well as featuring accounts by researchers and medical staff that have treated her over the last six years. Today, Marta is not only still alive, but enjoys a normal life in Oriola, a village near Alicante.
Marta’s case helped to make considerable advances in our understanding of both herpesviral encephalitis and post-herpes autoimmune encephalitis, enabling new therapeutic strategies to be developed.
The term autoimmune encephalitis refers to a group of inflammatory diseases of the central nervous system in which the immune system mistakenly attacks proteins of the organism itself. In this case, they are mediated by antibodies against neurotransmitter receptors or proteins on the neuronal surface. The action of the antibodies prevents the correct functioning of these proteins, which can lead to the appearance of neuropsychiatric symptoms such as, for example, behavioural changes, psychosis, seizures and cognitive and memory deficits. Although autoimmune encephalitis can affect people of all ages, some of the subtypes appear mainly in children and young adults and represent one-third of all cases of encephalitis worldwide. Josep Dalmau described the first of these disorders in 2007. Today, 17 types are known, 11 of which were identified at Dalmau's laboratory.