The invisible suffering of people with dystonia: "We demand dignity"

BarcelonaIt's been more than two years since Rosa Alarcón He had to resign from his job as a councilor for the Barcelona City Council For health reasons. She explained that she suffers from Meige syndrome, which causes spasms that make her mouth move involuntarily and close her eyes, momentarily losing her vision. She cannot read or drive, and has sometimes fallen in the street due to this muscular dystonia, a type of neurological disease like Parkinson's or essential tremor. Alarcón explains that, although the disease is chronic and limits the daily lives of those who suffer from it, it is largely invisible and "does not receive an adequate healthcare response." For this reason, she has spearheaded the creation of the Dystonia Catalunya Association, which seeks to improve the quality of life of those affected, and this Thursday she presented some of its demands before the Health Committee of the Parliament of Catalonia. "We are not asking for privileges. We are asking for dignity, equity, and quality of life," the association's president emphasized to the parliamentary groups. Specifically, she emphasized that they need individualized attention, appropriate rehabilitation, and access to centers best suited to their needs, since "every dystonia is different." According to the association's figures, it affects approximately 30 to 50 out of every 100,000 people worldwide, although there is "underdiagnosis," and often it is either not detected or detected late, Alarcón said. For all these reasons, she has requested specialized units for neurological disorders like hers throughout the Catalan hospital network. To illustrate the invisibility suffered by people with dystonia, Alarcón recounted an anecdote from when they were trying to register the association. They had practically received approval, but were asked for one last document specifying whether "dystonia" was a made-up word, an acronym that needed to be explained, or if it had a specific meaning that needed to be explained. "It's an example of the lack of awareness that still exists," said the president of the organization.

Symptoms and causes

It should be noted that these are not just spasms; the disease directly interferes with patients' lives. "It robs us of our autonomy," said Alarcón, who gave some examples of the suffering described by some of the people who are part of the association. According to the professionals at Vall d'Hebron Hospital who are researching it, dystonia is a very heterogeneous disease that can be caused by various factors and has a wide range of symptoms. Alarcón explained that some patients have constant pain that prevents them from cooking or moving normally, spasms that affect the vocal cords and make it impossible for them to speak, and contractions that end up causing social isolation, since people are unaware of the symptoms of the disease: "It's disconcerting and humiliating." Regarding the causes, people can be carriers of a new or inherited genetic mutation, but they can also develop the disease as a result of another health problem, such as a traumatic brain injury, among others. It doesn't cure, but there are treatments that improve the quality of life for those who suffer from it, and this is where Alarcón focuses: early detection and treatment starting as soon as possible on an individual basis. "Behind every diagnosis are people who have lost their autonomy, their jobs, their lives," she lamented.

Brain stimulation

All parliamentary groups present on the Health Committee have supported Alarcón and the association, and she has urged them to approve the budgets so that the allocation for the Department of Health and the care of rare diseases like hers can be updated. The Junts deputy even proposed working on a resolution to include Alarcón's demands and improve care for people with the disease, something she applauded. Even so, no timeline has been defined.

At the beginning of the year, the Ministry of Health designated the alliance between the Germans Trias i Pujol Hospital in Badalona and the Vall d'Hebron Hospital as a reference service for treating patients with movement disorders, such as Parkinson's, essential tremor, or dystonia, with surgery. Currently, there are two types of interventions to address cases in which medication has failed in neurologists' attempts to improve patients' quality of life and functional autonomy. This involves deep brain stimulation, which consists of implanting electrodes in the brain to "reorder" the malfunctioning brain circuitry, or the application of ultrasound, a minimally invasive technique of thermal ablation of the damaged areas of the brain that cause the tremors.