Family fights for R$15 million medicine for child with rare disease in SC | Santa Catarina

Family fights for R$15 million medicine for child with rare disease in SC

A rare disease made the family of 4-year-old Raul Rassele join a national movement fighting for the release of a million-dollar medicine. The boy, who lives in Itajaí, on the coast of Santa Catarina, was diagnosed with Duchenne Muscular Dystrophy (DMD), a neurodegenerative disease.

According to the Ministry of Health, she affects movements how to walk, sit and lift your head, in addition to causing respiratory and cardiac complications, with early deathbefore the age of 25.

Before reaching six years of age, Raul needs to take medication that can change the course of the disease. The medicine costs R$15 million It is its release in Brazil is under discussion this Tuesday (30), in a public hearing promoted by the Health Committee of the Chamber of Deputiesin Brasília (read more below).

Raul has mild symptoms for now, but He can no longer run, jump or climb stairs. His parents discovered the disease in him by chance. They began investigating two years ago, when a test that anticipated adenoid surgery showed changes, according to his mother, Deborah Rassele.

“In these tests, the liver enzymes were altered. We continued the investigation, which confirmed, through another test called CPK, that there was some muscle damage” says Deborah.

As a result, the family sought out a neuropediatrician. “The neuropediatrician evaluated it, talked to us about the possibility of it being Duchenne and collected the genetic test, which confirmed the presence of Duchenne Muscular Dystrophy”, he reports. Confirmation was in June 2023.

Raul is treated with corticosteroids and physiotherapy – but it is only palliative, as the disease causes the muscles to lose strength. It is common for children to need a wheelchair when they reach 10 years of age.

Furthermore, simultaneously, or subsequently, respiratory and cardiac complications arise, which include dilated cardiomyopathy, arrhythmias, heart failure and respiratory failure. Death usually occurs between the ages of 18 and 25.

A medication that can prevent the disease from progressing is called Elevidys. The family’s hope is to obtain the remedy through the judiciary, and the expectation is that release will occur through a public hearing. It is one of the steps for Anvisa – the National Health Surveillance Agency – to release the medication in Brazil.

“Having Anvisa’s approval makes it easier for the judge to give a favorable opinion on Raul’s case”, says Deborah.

Duchenne Muscular Dystrophy affects around 700 people per year in Brazil – according to a survey carried out by the Federal Senate. It is more common in boys – one in every 3,500 born.

“In Brazil there are many boys with parents in the same struggle as us here in Santa Catarina. This hearing next week is our opportunity to make politicians see boys with Duchenne and help us”, comments Deborah.