Family Discovers Incurable Rare Disease in Child and Fights to Delay Degeneration | More health

Even at a young age, the little Davi Ramos Civeira, 5 years old, is already facing a great battle. Diagnosed nearly two years ago with Duchenne Muscular Dystrophy (DMD), a rare, incurable and degenerative disease that weakens the muscles, he struggles to slow down the effects caused by the pathology through advanced treatments.

A resident of Santos, on the coast of São Paulo, the boy was diagnosed in September 2019, according to his mother, 35-year-old Pâmela Ramos. “He started walking at 1 year and 4 months, and since then we noticed that he walked around with his hips, but we thought it was something characteristic of him. Another thing is that he always had very chubby calves, but we thought they were common”, she says.

The alert for a possible disease occurred in 2018, shortly after Davi suffered a fall from the bed, twisted his foot and had his limb immobilized for 15 days. When he removed the splint, the boy stopped walking.

A 5-year-old boy undergoes treatment to delay the effects of serious illness — Photo: Personal Archive

“He spent half a month without walking, putting his foot on the ground, but crying. When he started walking again, we noticed that he no longer climbed steps, nor stairs, didn’t jump and didn’t get up off the ground by himself. He did almost nothing”, says the mother. Pamela also began to notice that her son did not walk more than a block without complaining that he was tired.

After going through some specialists, reporting David’s motor difficulties, Pamela got the diagnosis. “It’s not easy. At first, your world opens up, you get scared at the diagnosis, not knowing which way to go”, he says. Since then, the family has been fighting for the boy to continue with treatment to delay the degeneration caused by the disease, which leads to loss of movement and can even affect the respiratory and cardiac muscles, which could lead to the child’s death.

“Boys with Duchenne lose the ability to walk around 10 years old. So what we’re trying to do with physical therapy is to slow that process down. If the expectation is that he will stop walking at 10, let’s try to get him to reach 12”, says Pâmela. For this, he undergoes monitoring by a specialized team, consisting of a doctor, physiotherapist, speech therapist and occupational therapist, in addition to other professionals.

David fights the effects of rare degenerative disease — Photo: Personal Archive

Recently, the boy started to undergo respiratory physiotherapy, as he is oxygenating low during sleep. This should only happen when he is older, at 12 years old, says Pamela. “This disease is a box of surprises, we don’t know what tomorrow is. We don’t know if we’re going to lose him. We try not to think about it. Diagnosis is not a sentence”, says Pamela.

Treatment to improve oxygenation levels uses the Bipap device, an air compressor device used to treat severe sleep apnea.

David needs oxygenation while he sleeps — Photo: Personal Archive

“Our fight is for him to have the best professionals. Whatever I have to do, I’ll do it”, he says. Despite all the struggle, the mother says that the boy does not lose his joy. “We never see David cry. He understands that he has the disease, but he is not saddened by it. We are the ones who hide to cry. He is full of life, of joy”, he concludes.

Physiotherapist Vivian Vargas explained, in an interview with G1, that Duchenne Muscular Dystrophy is rare, has no cure and is genetic, linked to the woman’s X chromosome, which, in most cases, is the carrier of the genetic error. Only the male son manifests DDM, the female daughters are carriers. That way, they can have children with dystrophy.

“The child is already born with it, but it is not at birth that it manifests itself”, he reports. According to Vivian, the lack of a protein essential for muscle integrity causes tissue to degenerate. The child takes a while to walk. Between 2 and 4 years old, he falls a lot, and a few years later, he stops running and climbing stairs. At 12, he normally stops walking.

According to the specialist, the sooner the child is diagnosed, the better the quality of life, and he will walk for longer. “If you introduce corticotherapy, a powerful anti-inflammatory that minimizes inflammation in the muscle, this is possible”, he highlights.

Over time, because the disease is progressive, the child loses the power of movements, starting with the legs, hips and buttocks. It also affects the respiratory and cardiac muscles, which can lead to the child’s death. According to Vivian, that is why physiotherapy and the specialization of professionals is essential in the care of dystrophics. “We rarely find professionals prepared to treat and diagnose DMD in Brazil. It is a very serious disease, and greater awareness and collective work are needed to face it”, he concludes.

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