After 38 years of visits to almost 100 doctors, Brazilian priest Marlon Múcio finally managed to discover which disease was responsible for a series of symptoms he began to experience at the age of seven. Today, he needs to take 281 pills a day to control Brown-Vialetto-van Laere syndrome, a rare condition.
“Even without a chance of a cure, I don’t give up. I have the disease, it doesn’t have me”, says the priest on his social networks.
Brown-Vialetto-van Laere syndrome is so rare that, worldwide, only 350 people have the diagnosis: the number is eight times smaller than the number of billionaires on the planet.
In the priest’s case, the first symptom was deafness, which manifested itself when he was seven years old. He underwent corrective surgery but, at 14, the disease progressed and the boy even began to have difficulty chewing — the family, however, did not know that the two symptoms were connected.
While going through what he defines as a “via crucis” of doctors, Marlon trained as a religious man, but found it increasingly difficult to control his muscles. The condition worsened in 2010, and he began to fall frequently, not being able to support his own neck and using a respirator 24 hours a day to combat fatigue and shortness of breath.
It was only at the age of 45 that he discovered the diagnosis of his disease. “I received six erroneous diagnoses and was treated for what I didn’t have,” he said in an interview with Fantástico, on TV Globo, this Sunday (3/3).
The rare disease
Brown-Vialetto-van Laere syndrome (SBVVL), one of the two subtypes of riboflavin transporter deficiency, is an inherited degenerative disease characterized by sensorineural deafness followed or accompanied by a variety of changes in the cranial nerves that can compromise the functioning of various organs.
The condition is caused by a mutation in the intestinal riboflavin transporter genes. The component, contained in vitamin B2, processes carbohydrates.
SBVVL is mainly treated with riboflavin replacement. But as the diagnosis delays, it is necessary to adapt the treatment to deal with conditions that appear due to the weakness of the digestive system.
“I am already a living miracle, I am not afraid of dying, I am at deep peace with God. My mission is to help discover a cure for this disease”, says Marlon, in a report published on UOL.
