USP Athlete with Rare Neurological Disease Overcomes Odds to Compete in French Paralympics
Brazilian athlete Giovanna Boscolo, a former actress from Chiquititas who has a rare neurological disease, will participate in the Paralympics in France. Giovanna arrives as the favorite, already with a gold medal from the Americas record. After being diagnosed with Friedreich’s ataxia, after suffering two injuries incompatible with physical activity, she was advised to give up the sport. However, she did not give up and set out to understand the genetics of the disease that affected her. Giovanna decided to delve deeper into genetics and graduated in biomedicine, writing her final project on Friedreich’s ataxia. Passionate about sports, she did an internship at the Brazilian Paralympic Committee where she discovered that she could compete in the category of people with brain injuries.
What is Friedreich’s ataxia?
Doctor Fernando Freua, a neurologist at the Hospital das Clínicas of the USP School of Medicine and coordinator of the Rare Neurological Diseases and Neurogenetics Outpatient Clinic at HC, explains that the disease is genetically determined when a gene called FXN repeats letters of our DNA, called trinucleotides, several times. The repetition of these letters can cause this disease, which basically causes incoordination of movements.
According to Freua, the disease can affect people of any age, but it most commonly affects children and adolescents between 10 and 15 years of age, and can also occur later in life. In addition to incoordination, symptoms such as difficulty walking worsen over the years, affecting other organs such as the heart. The neurologist explains that initially, there is difficulty performing simple movements such as walking, marching or performing finer movements, as can sometimes occur when the patient misses targets when reaching for an object with his or her hands. This condition progresses over time and these symptoms worsen.
Treatment
It is important to emphasize, according to the neurologist, that Friedreich ‘s ataxia , despite being an eminently neurological disease, with a multisystemic manifestation that compromises the part related to the execution of movements, can have other extraneurological manifestations such as, for example, heart disease related to the mutation of this same gene.
Although there is no cure for the disease, the good news is that there is treatment. According to Freua, there are both drug and non-drug treatments. Treatment should usually be carried out by a multidisciplinary team, with a physiotherapist, occupational therapist, speech therapist and a doctor who will administer the medication according to the patient’s needs and symptoms. More recently, a specific medication for this disease was approved. It is not a medication that changes the course of the disease, but it does bring benefits in terms of functionality.
Neurologist Fernando Freua explains that it is possible to practice sports, as there are very different degrees of impairment from a motor point of view, and physical activity helps a lot to prevent the progression of the disease. One of the medical recommendations is that the patient practice physical activities under the supervision of a physiotherapist or physical educator.