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 the need for individualized attention, appropriate rehabilitation, and access to centers best suited to their needs, as "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. It's important to understand 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 association's members. According to professionals at Vall d'Hebron Hospital who research 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 experience constant pain that prevents them from cooking or moving normally, spasms that affect their vocal cords and render them unable to speak, and contractions that ultimately lead to social isolation, as people are unaware of the disease's symptoms: "It's disconcerting and humiliating."

Brain stimulation

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's not life-threatening, but there are treatments that improve the quality of life for those who suffer from it, and this is where Alarcón focuses her attention: 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.

All the parliamentary groups present on the Health Committee supported Alarcón and the association, and she urged them to approve the budgets to update the allocation for the Department of Health and the care of rare diseases like hers. 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 timetable 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 disease, 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. These are deep brain stimulation, which involves implanting electrodes in the brain to "reorder" the malfunctioning brain circuitry, and the application of ultrasound, a minimally invasive technique of thermal ablation of the damaged areas of the brain that cause tremors.