Ataxia: the routine of a Brazilian journalist with a rare disease that affects movement and speech

It was while working as a reporter at TV Anhanguera, a Globo affiliate, in Goiânia, in 2017, that journalist Rodrigo Mansil, now 40, had the first signs of ataxia — a neurological disorder that causes loss of motor coordination. Despite his efforts, his speech was slow and slurred, 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 about two decades until his death in 2021 – Mansil decided to have a genetic mapping, by collecting a blood test, and, right away, he 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 beginning to emerge — such as slower, slurred speech and a lot of fatigue — Mansil decided to leave his work in television and began to dedicate himself exclusively to his second passion: psychology and medical care. your office.

The passage of time made the symptoms worse. It started with fatigue in small day-to-day activities, then came the imbalance to walk and mobility difficulties. Today, four years after the diagnosis, all his activities had to be reduced due to the increase in motor limitations caused by ataxia. He moves with difficulty and needs the help of a cane to help with balance.

“Any activity I need to do will take more time than someone else due to lack of motor coordination and balance. Even to walk inside my apartment, sometimes it is necessary for me to stop and lean against the wall because I lose my balance and it is dangerous suffer falls”, says the journalist and psychologist.

For his own safety, Mansil made some adjustments to his apartment. The rugs were removed and objects such as cups, for example, were replaced by items made with materials that do not break when dropped on the floor. In addition, he has the help of an employee to keep the place clean and a person who takes care of preparing his food.

“The lack of coordination makes it difficult for me to lift my foot to walk, I recently tripped on the rug, fell and broke my foot. And any activity I’m going to do, like drinking water or washing dishes, I take a long time because my movements are not very coordinated, but regardless of the difficulties, I am stuck a lot for 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 the worsening of the sequels, working became something practically impossible. To stay active, he now makes a few monthly appointments at his psychology office 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 dedicates 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 a 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 stay active, taking classes and interacting with people”, says the journalist and psychologist.

loss of movement

Over time, the journalist will lose leg and arm movements, trunk control and will not be able to stand upright. He will have to adapt to day-to-day activities, no longer using a cane and needing a walker until he gets to the point of using a wheelchair.

“Ataxia tends to get worse over the years and I will gradually need more help. That’s why it’s 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 the worsening of my condition as much as possible”, adds the journalist.

There is still no curative treatment for ataxia. Studies using medications and cell therapy, such as stem cells, are ongoing. An extra hope for those who have the disease.

what is ataxia

Ataxia is a neurological disease characterized by loss of balance. It usually occurs due to injuries or degeneration of nerve cells in the cerebellum – the area of ​​the brain responsible for motor coordination and balance.

There are several types of ataxias and their causes also vary and can be hereditary or genetic or secondary causes 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 some 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, a neurologist at the State Center for Rehabilitation and Readaptation, in Goiânia.

In the case of genetic ataxias, such as Machado Joseph’s or Friedreich’s, the most common, they are divided into two main groups: the autosomal recessive forms and the autosomal dominant forms.

In dominant forms, a patient who has the genetic alteration has a 50% chance of transmitting the disease to their children. Patients with dominant ataxia have symptom onset 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 a recessive ataxia have symptom onset in childhood or up to age 25 years.

“The diagnosis is made 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 magnetic resonance, for example, can help. For the diagnosis of hereditary ataxias , the genetic test must be carried out, carried out by a blood test or saliva swab”, explains José Luiz Pedroso, professor at the Department of Neurology and Neurosurgery at the Federal University of São Paulo.

What is Machado-Joseph Disease?

Machado Joseph’s ataxia, popularly known as the “stumble disease”, causes degeneration of the nervous system and can be easily confused with Parkinson’s, as it generates 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 a genetic mapping is necessary, since the syndrome is caused by a mutation called ATXN3. The number of times the mutation is repeated is a determining factor for the severity of the disease.

This text was originally published here