A boy with a rare disease receives the most expensive medicine in the world: ‘The most exciting day of our lives’

Henrique Berg was diagnosed with spinal muscular atrophy (SMA) type II, a rare degenerative disease

The family of 1-year-old Henrique Berg has been in a race against time since he was diagnosed with spinal muscular atrophy (SMA) type II, a rare degenerative disease. THE Earth told the family’s story in July. Until, this week, on the same profile used to describe the little boy’s battles, his family shared that he had received the medicine.

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“Today is the most exciting day of our lives. After a long battle, we received the news we were waiting for: the judgment was unanimous and our little Henrique will take Zolgensma, the medicine that will save his life.”the family wrote in the publication.

The medicine indicated for the treatment, known as the most expensive in the world, costs from R$6 million and must be administered before the child turns two to ensure a better quality of life.

“Now Henrique has the chance for a future full of possibilities, and for this we will be eternally grateful,” they wrote, thanking “every contribution and every word of support.”

Remember the story

Raquel Berg, Henrique’s mother, explained to the Earth that the son turned one on June 29th and on June 13th he had an episode of respiratory flu. Concerned about her son’s tiredness, Raquel took him to the emergency room for an evaluation. Various tests, including x-rays, were carried out in the hospital to rule out possible infections.

The mother reported that the emergency room doctor noticed a tremor in Henrique’s hand, which could not be explained by any medication administered. This led the specialist to request a neurological evaluation, concerned about the possibility of a viral pathology.

Raquel said the doctor also noticed weakness in Henrique’s legs. Until then he had not yet started to crawl and had a delay in motor development, which worried doctors. After suspecting SMA, the neurologist ordered a genetic test that confirmed the diagnosis of SMA type II about eight days later.

According to the Ministry of Health, SMA is a rare, degenerative disease, transmitted from parents to children, which interferes with the body’s ability to produce a protein essential for the survival of motor neurons, responsible for the body’s simple vital voluntary gestures, how to breathe, swallow and move.

The disease varies from type 0 (before birth) to type 4 (second or third decade of life), depending on the degree of muscle impairment and the age at which the first symptoms appear. The condition causes the death of motor neurons due to lack of the protein, and patients gradually begin to experience signs and symptoms of the disease, which can lead to death.

Zolgensma therapy must be administered until the age of two to be effective. The National Health Surveillance Agency (Anvisa) approved the medicine in 2020.

The therapy involves injecting the necessary gene into the patient’s body using laboratory-modified viruses, which deliver the gene to the cells of the spinal cord. The dosage is unique and adapted to the weight of the child, being more effective the smaller the patient. Zolgensma acts directly on DNA without modifying it and clinical studies have already demonstrated its effectiveness against SMA.

Source: Terra

Ben

Ben Stock is a lifestyle journalist and author at Gossipify. He writes about topics such as health, wellness, travel, food and home decor. He provides practical advice and inspiration to improve well-being, keeps readers up to date with latest lifestyle news and trends, known for his engaging writing style, in-depth analysis and unique perspectives.