Young man undergoes 36 doctors until he receives diagnosis of rare disease

Renan Treglia was 16 when he began to notice changes in his body. He could not, for example, carry a kitchen bottle to his bedroom or hold a tray in a food court without overthrowing the liquid contained in the glass. Shortly thereafter, he began to lose his leg balance.

Given the symptoms, he sought a doctor, who indicated him for physical therapy. Even so, already in college, where I took a course to be a plane pilot, started to have motor difficulties and could not accurately perform tasks in a simulator. Later, his speech began to be “wrapped” and slower.

This is how he started a real saga to find out the cause of his symptoms. First, a consultation from the neurologist, who requested several exams and, not being able to detect the origin of the problem, referred him to an orthopedist. The professional also failed to find out what affected Renan. They returned to another neurologist.

In total, it was necessary to consult 36 doctors for Renan to receive the correct diagnosis: Friedreich’s ataxia a rare neurodegenerative disease that reduces muscle and motor coordination progressively, and reduces life expectancy.

Because it is rare, up -to -date information about its epidemiology is scarce, but according to the Friedreich’s Ataxia Research Alliance (Fara) records, the disease can reach one in 50,000 individuals – affecting approximately 15,000 people worldwide, and Brazil is estimated to have the second largest population of patients.

Understand what Friedreich’s Ataxia is

Friedreich’s ataxia is a genetic neuromuscular disorder causing Progressive damage to the nervous system . The first symptoms include stumbling and frequent falls, lack of balance, difficulty walking and speech problems, and usually appears between childhood and adolescence.

The disease is caused by a mutation in the FXN gene, which encodes a protein called Fataxine. Such genetic alteration prevents the body from producing sufficient amounts of fataxine, resulting in iron accumulation in cells and oxidative stress, which leads to neurodegeneration. The disease generates damage to brain cells, spinal cord and peripheral nerves, as well as the heart and pancreas.

Therefore, people living with Friedreich’s ataxia are more likely to develop heart disease and diabetes, and have a lower life expectancy of up to 37 years.

Delay in the diagnosis of rare diseases impacts self -esteem and quality of life

The case of Renan, now 24, is not an exception. Because they are little known, with low and poorly studied incidence, rare diseases can take years to be diagnosed correctly. In addition to the greater risk of the condition progress, the delay can also have consequences for mental health and quality of life.

“I started to have a little embarrassing to go to college. Because of my imbalance, I couldn’t walk very well. Picking public transport started to get dangerous for me. So I decided to stop [de estudar]”Renan tells the CNN .

The saga in search of the diagnosis for its condition generated anxiety in the youth, which also developed depression. “I spent the night crying and had to pass a psychiatrist. I do treatment to this day,” he says. With the diagnosis confirmed, anxiety worsened. “I thought, ‘What now? What am I going to do?’. It’s a disease that didn’t exist medicine at the time,” he says.

The anguish felt by Renan was transferred to his parents, who also developed depression. “There were times when I woke up to go to the bathroom at night and they were awake, talking about what they could do. They couldn’t sleep,” he says.

“Renan’s case is more as a rule than for exception,” says Alberto Martinez, professor at the Department of Neurology at the University of Campinas (Unicamp), CNN . “The great difficulty [para o diagnóstico] It is because it is a disease ultrarara. Eventually, doctors who attend do not have Friedreich’s ataxia radar, no matter how much the most common recessive autosomal Ataxia in the world. It is very complex and very difficult to come across [com um caso como esse] In clinical practice, ”he explains.

Another obstacle cited by the expert is the very exam capable of confirming the diagnosis of the disease. It is a molecular test that analyzes the patient’s DNA to detect the mutation in the FXN gene and is not in the list of the Unified Health System (SUS). “A doctor from the Basic Health Unit may have difficulty requesting this exam, and this turns out to be a second barrier,” says Martinez.

Challenges in treatment and hope in new medicine

Another challenge faced by patients with Friedreich’s ataxia. Until then, there is no available for marketing, in Brazil, a specific medicine for the treatment of the disease.

In April, the National Health Surveillance Agency (Anvisa) approved the registration of Biogen’s Skyclarrys (Omaveveloxolone), indicated for patients aged 16 or over, to reduce the neurological symptoms of the disease. Nevertheless, it is still necessary to define the price by the Medicine Market Regulation Chamber (CMED) so that the medicine is available to be marketed.

According to Martinez, currently available treatment options include physical therapy and speech therapy. Psychotherapy and occupational therapy are also recommended. “This treatment framework that involves multiple professionals is necessary. However, this multidisciplinarity is very difficult to achieve, especially in the reality of SUS,” says the expert.

While awaiting the approved drug, Renan is treated with a diversity of professionals, including modalities such as Pilates and bodybuilding to preserve their muscle mass. The young person also supplemes vitamins, such as magnesium, coenzyme Q10 and vitamin B12.

“With the treatment I do at the psychiatrist and pilates, I can relax my mind and rest assured. I don’t forget [a doença]But I see life another way, ”says Renan. However, his hope is in drug treatment.“ He won’t heal me, but it will stabilize the disease, and it can go back to how I was two years ago, and that’s a lot, ”he says.

Examination to detect rare disease in newborns becomes mandatory

This content was originally published in young people go through 36 doctors until receiving diagnosis of rare disease on CNN Brazil.

Source: CNN Brasil