Rodrigo Mansil, now 40, had the first signs of ataxia while working as a television journalist in Goiânia.
It was while working as a reporter for TV Anhanguera, an affiliate of Globo, in Goiânia, in 2017, that journalist Rodrigo Mansil, now 40, had the first signs of ataxia, a neurological disorder that causes the loss of motor coordination. Despite his best efforts, his speech was slow and confused, signs that began to be noticed by his bosses who made him re-record his stories.
Due to the genetic history of the condition – which followed his father for nearly two decades until his death in 2021 – Mansil decided to have a genetic mapping done, doing a blood test, and immediately had to face the diagnosis: he was a carrier of Machado Joseph’s disease, a type of ataxia that causes degeneration of the nervous system.
With the diagnosis in hand and the first difficulties of the condition starting to emerge – such as slow, confused language and a lot of fatigue – Mansil decided to quit his television job and began to devote himself exclusively to his second passion: psychology and medicine. take care of your office.
Over time, the symptoms worsened. He started with fatigue in small daily activities, then came the imbalance in walking and motor difficulties. Today, four years after his diagnosis, all his activities have had to be reduced due to the increased motor limitations caused by the ataxia. He moves with difficulty and needs the help of a cane to help with balance.
“Any activity I have to do will take longer than someone else due to lack of motor coordination and balance. Even to walk around my apartment, sometimes I need to stop and lean against the wall because I lose my balance and it is dangerous to suffer falls “, says the journalist and psychologist.
For his safety, Mansil has made some changes to his apartment. The carpets have been removed and items such as cups, for example, have been replaced by items made from materials that don’t break when they fall to the ground. In addition, he employs the help of an attendant to keep the place clean and a person who takes care of the preparation of his food.
“Lack of coordination makes it difficult for me to lift my foot to walk, I recently tripped on the carpet, fell and broke my foot. And any activity I will do, such as drinking water or washing dishes, takes a long time for my movements are not very coordinated, but regardless of the difficulties, I am very stuck in my autonomy and independence and, therefore, I continue to live alone, “he says.
early retirement
This year, Mansil retired due to complications caused by the disease. With sequels getting worse, working has become virtually impossible. To stay active, he now makes a few monthly appointments in his psychology studio as a volunteer.
In an attempt to delay the worsening of the disease, the loss of motor functions and have a better quality of life, Mansil devotes himself to various activities such as swimming lessons, weight training, occupational therapy and ecotherapy. This is how he spends most of his weekdays.
“The treatments were not aimed at the cure, but they will give me a better quality of life. Not to mention that my intellectual part is not affected by the disease, so I need to keep active, to follow the lessons and to interact with people”, says the journalist and psychologist.
loss of movement
Over time, the reporter will lose leg and arm movements, trunk control, and will not be able to stand upright. You will have to adapt to daily activities, no longer using a cane and needing a walker until you reach the point of using a wheelchair.
“Ataxia tends to get worse over the years and I will gradually need more help. This is why it is very important for us to have psychological counseling and participate in support groups with people with the same pain. I know my future will be more limited, so I take the opportunity to do everything I want and take care of myself to try to delay as much as possible the worsening of my condition “, adds the journalist.
There is still no curative treatment for ataxia. Studies are underway on the use of drugs and cell therapy, such as stem cells. An extra hope for those with the disease.
what is ataxia
Ataxia is a neurological disease characterized by loss of balance. It usually occurs due to injury or degeneration of nerve cells in the cerebellum, the area of the brain responsible for motor coordination and balance.
There are different types of ataxias and their causes also vary and can be hereditary or genetic or secondary such as stroke (stroke), lack of vitamin B12 or even infections caused by antibodies produced against the cerebellum.
“Ataxia can also be generated as a response to certain types of cancer or secondary to celiac disease (gluten intolerance) and even the excessive use of alcohol or phenytoin (a drug used to treat and prevent seizures)”, explains Paulo Phelipe Barbosa Monteiro, neurologist at the State Center for Rehabilitation and Rehabilitation, in Goiânia.
In the case of genetic ataxias, such as that of Machado Joseph or that of Friedreich, the most common, are divided into two main groups: the autosomal recessive forms and the autosomal dominant forms.
In the dominant forms, a patient who has the genetic alteration has a 50% chance of passing the disease on to their children. Patients with dominant ataxia have an onset of symptoms in adulthood, typically between the ages of 30 and 50.
When it is recessive, for the child to have the disease, it is necessary to have two genes with mutations, one from the father and one from the mother. Patients with recessive ataxia have symptoms onset in childhood or up to the age of 25.
“Diagnosis is based on a medical evaluation and with a detailed analysis of symptoms, family history and neurological physical examination. Complementary tests, such as imaging tests, such as MRI scans, can help. For the diagnosis of hereditary ataxias, the genetic test must be carried out by means of a blood test or a salivary swab “, explains José Luiz Pedroso, professor at the Department of Neurology and Neurosurgery at the Federal University of São Paulo.
What is Machado-Joseph’s disease?
Machado Joseph’s ataxia, popularly known as the “stumbling disease”, causes the degeneration of the nervous system and can be easily confused with Parkinson’s, as it causes lack of motor coordination and loss of balance. Also called type 3 ataxia, it is one of the most common in Brazil.
Its cause is usually genetic, but genetic mapping is required, as the syndrome is caused by a mutation called ATXN3. The number of times the mutation is repeated is a determining factor in the severity of the disease.
– This text was published in https://www.bbc.com/portuguese/geral-63420869
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