Igor and Aline Muniz will receive new treatment for Cauã
After a year and seven months of fighting in court, little Cauã Barbarioli Guimarães Muniz, 3 years old, will be the first capixaba to receive the single-dose drug Zolgensma, used to treat spinal muscular atrophy (SMA).
The drug is considered the most expensive in the world, worth 2,125 million dollars (which corresponds to about R$ 10 million).
It is scheduled to arrive between this Wednesday, 16, and Thursday, 17, in Vitória, and will be applied next Friday, 18, at Hospital Meridional de Vitória, the only one in the state that can receive and apply this medication.
Injected into a vein, the drug is a type of gene therapy – a procedure of introducing genes into cells to treat diseases. It is the most modern treatment for SMA, which is a genetic disease.
But, to receive the medicine, the walk was not easy. Cauã’s parents, public servant Aline Muniz, 34, and professor Igor Barbarioli Muniz, 36, won a lawsuit that has been taking place since August 2020 against the Union.
“It was the only alternative we had at the time, because this medication is not available through the SUS (Unified Health System). It was difficult, suffered, because there were many comings and goings, but we finally managed, through a decision of the Federal Supreme Court (STF)”, reported Aline.
Cauã was diagnosed with SMA type 1, the most severe, at 4 months of age. At the time, the family also had to go to court to get the Spinraza medicine, which is now offered by the SUS. He started taking the medication at 8 months of age.
This medication is given every four months by injection into the spine. In search of a more effective and faster treatment, as it is a single dose, the family went to court to obtain Zolgensma.
Neurologist Elisa Funck will apply the drug
Responsible for the drug application procedure in Cauã, the child neurologist of the Meridional Network Elisa Caetano Funck explained that AME is caused by the non-production of a fundamental protein to keep motor neurons alive, and that the drug corrects this genetic defect.
“We hope that the functions of swallowing, speaking and breathing will improve with the drug, and that he will gain more muscle strength,” he said.
Child neurologist Thiago Gusmão pointed out that the benefit of the single-dose drug is not having to deal with hospitalization and the risks it entails, such as infections, every four months. “Gene therapy is the future of medicine”.
“We have to fight for our rights”, says Cauã’s mother
The new medication against spinal muscular atrophy (SMA) that will be administered to little Cauã Barbarioli Guimarães Muniz, 3 years old, is a hope for the family, which is waiting for a better quality of life for him.
The mother, public servant Aline Muniz, 34, said that the fight in court over the medication has been going on for about a year and seven months.
A Tribuna – Why did you decide to go to court?
Aline Muniz – We decided to file this lawsuit to look for another medication, because it is the best in terms of therapy and treatment for SMA today. With the other (Spinraza), he had to go to the hospital every four months, receive sedation and injection in the spine. It was very invasive. This is a single dose and is an IV medication.
All that we have to support, in relation to therapy, medication and input, we had to go to court, whether against the Union or against the health plan. It is very exhausting, because we have to fight for something that is our right.
What do you expect with the new drug?
Our goal is for him to provide more quality of life for Cauã, so that he can carry out activities with more independence, such as eating sitting down and touching the wheelchair himself. All of these are gains that represent a lot.
How was the SMA diagnosis made?
At 4 months old, Cauã was diagnosed. But we have already observed the first signs when he was approximately 1 and a half to 2 months old. He was a softer child, he didn’t firm his neck, he moved his little legs a little. We observed this very early on, we looked for specialist doctors and got a quick diagnosis.
Spinal muscular atrophy (SMA)
- Spinal muscular atrophy (SMA) is a rare, degenerative, neuromuscular and often lethal genetic disease that affects motor skills and breathing.
- SMA is a disease caused by the failure to produce a protein essential to keep motor neurons alive. The new drug, Zolgensma, corrects the genetic defect and the person starts producing the protein. Thus, some motor limitations of the disease, such as locomotion, start to be alleviated.
- The earlier the diagnosis, the more effective the treatment. One of the specialists’ requests is that the AME test be placed next to the Foot Test, which is still carried out at the Maternity Hospital.
- AME has no cure, but it has treatment. In Brazil, three drugs are approved by the National Health Surveillance Agency (Anvisa): Spinraza (nusinersena, available through the Unified Health System), Zolgensma (onasemnogene abeparvovec-xioi) and Evrysdi (risdiplam).
Source: Experts consulted.