The parents of the boy with the campaign of the genetic disease for the treatment of the son: "The very urgent situation" says the mother | Rio Grande do Sul

Still in the womb of the mother, with weeks of gestation, tests revealed that the baby had small tumors in the heart. It was only indicative, but doctors later confirmed: Henry has a genetic disorder that affects several body organs and leads to the development of benign tumors, called tuberous sclerosis.

"It is multisystemic, but mainly affects the central nervous system, ie the brain and the retina, it may have a benign presentation or more significant alteration", explains G1 neuropediatra Alessandra Marques Pereira. She follows Henry's case.

The condition has no treatment and requires continuous treatment, a life time. With no financial means to pay for everything, parents, Mariana and Pedro Benck of Porto Alegre, launched the campaign "A Voice for Henrique" on the Internet. The goal is to collect 80,000 reais. That would be enough for a year of treatment.

"It's a very unpredictable disease, although tumors are benign, they're numerous, and they take the place of neurons, and this neurological damage is very large, so everything for Henry becomes harder." Mariana, 33 years old.

Beyond the heart, Henrique has tumors in the eyes, brain and kidneys. According to the mother, they cause epileptic seizures.

"We were afraid to see how the crisis has worsened, he lost the strength and balance of his legs, his body is very fragile, for the first time we are afraid for his future, "he admits.

A drug containing the active ingredient called everolimo, used in the United States for many years, has been approved by the National Health Surveillance Agency (Anvisa) to be administered in Brazil. The remedy reduces tumors and therefore seizures, but it is expensive.

As this is a drug used in cancer patients and undergoing a kidney transplant, it is only available in the public network for these cases. That is, Henrique does not have access to the drug through SUS. "Unfortunately, Brazil remains one of the few countries that does not allow the use of this drug for the treatment of tuberous sclerosis," the doctor complains.

In the case of Henrique, the disease was seen during Mariana's gestation. She was 30 weeks old. "It's the importance of prenatal care, we can make a diagnosis and plan for follow-up in the first years of life," says the pediatrician.

Since the family needed to reduce treatment for lack of money, Henrique 's health condition worsened. The crises have increased in frequency and intensity. They are daily, according to the mother.

"It's a very urgent situation, we will try to get the drug through the legal route, but we know it takes time," he says.

The drug costs about $ 8,000 a box, which would be used once a month.

This is the second time the couple turns to social networks to publicize Henry's cause. Three years ago, it worked. They have received support from many people and the child has progressed, according to his mother.

"It was possible to see him develop, evolve, very significantly, but of course, he needs attention and care, Henrique does not speak, he has a very great intellectual retardation, but we have already seen good results, "she says.

"I want to hear my son call me a mother day, run, play with other children, but my desire now is that he will recover."

Besides tuberous sclerosis, the boy also has autism. He has multiple medical follow-up, which includes meetings with an ophthalmologist, a nephrologist and a pediatric neurologist, and uses anticonvulsants. For this reason, Mariana has stopped working and devotes herself exclusively to the care of children. Her husband is a computer badyst.

"This is a completely dependent child, I can not leave, medical appointments take a lot of time," he says.

Despite the limitations, Henrique attends regular school, but in reduced hours. Twice a week in a single shift

"People were very reluctant to enroll in a normal school, people told me that he could not do it, but as a mother I had to try, "he says.