Rare genetic disease causes brothers to progressively lose movement in Acre At the age of 12, Pedro Rodrigues already had to give up football, running and even common childhood games. The youngest brother, Tiago Rodrigues, 7, still runs and climbs stairs, but the family knows that, as the years go by, the same illness that changed the oldest's routine will also limit, little by little, his movements. ? The two brothers, residents of Rio Branco, live with Girdle Muscular Dystrophy type 2C (LGMD2C), an ultra-rare, degenerative genetic disease with no definitive cure that causes the progressive loss of muscle strength. ? Join the g1 AC channel on WhatsApp As patients progress, they begin to have difficulty running, climbing stairs, getting up from the floor and doing other daily activities. In more advanced stages, the disease can also compromise muscles responsible for breathing and heart function. However, hope for a reversal of the brothers' health began to change last year, following a study carried out in the United States that showed significant improvements in patients who participated in the first phase of the research. Now, the family is seeking to raise R$5.2 million (US$1 million) to finance the second phase, which includes drug testing, and to actually be able to include them -- as both have received acceptance to participate. To g1, lawyer Fabíula Albuquerque Fleming, mother of the boys, said that monitoring the progression of the disease in her children is one of the family's biggest challenges. "It's very difficult to watch a child burying their own dreams while still alive. Seeing their brightness diminish, realizing that they have become more silent and sadder. This breaks any mother's heart", she reported. Check out this g1 report: What is the disease How is medical monitoring Diagnosis of the oldest Pregnancy and discovery of the disease in the youngest Intense routine Treatment Campaign to participate in research in the USA Pedro Rodrigues, aged 12, and Tiago Rodrigues, aged 7, live with Girdle Muscular Dystrophy type 2C, an ultra-rare genetic disease Personal archive What is the disease Girdle Muscular Dystrophy type 2C (LGMD2C) is an ultra-rare genetic disease that causes the progressive destruction of muscle fibers. According to neurofunctional physiotherapist Fabiana Martins, master in health sciences and who has already accompanied Pedro and Tiago, the first signs usually appear in childhood, generally between 2 and 4 years of age. The specialist explains that the disease is hereditary and occurs due to a genetic change, which can be caused by a mutation or transmitted by parents. Furthermore, it mainly affects the muscles close to the center of the body, such as shoulders, arms, hips and thighs, regions known as 'waists'. According to her, the child is born and develops normally, learning to walk, run and play like any other. Over the years, however, these abilities begin to be lost because the muscles gradually stop responding to the body's commands. "The child has every desire to run, play and do everyday activities. His cognitive ability remains preserved, but he is unable to perform the movements because the muscle begins to degrade and lose strength", he explained. 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However, although Tiago still runs, climbs stairs and plays, he already shows some signs of the disease. "He makes compensations to get up from the ground, but, due to his young age, he still has more preserved strength than Pedro. When Pedro was his age, he did the same things. The disease takes away that as time goes by. Today, Tiago doesn't talk about anything other than the cure and believes that one day he will be able to make his dream come true", he said. Doubled effort As progression progresses, simple activities begin to require effort, such as getting up from the floor, walking long distances or participating in games. In addition to the gradual loss of muscle strength, LGMD2C can also compromise muscles important for breathing and heart function. Therefore, according to Fabiana, early diagnosis and specialized monitoring make a difference in preserving patients' autonomy for as long as possible. "Treatment is not just to preserve muscles. It is to preserve quality of life, independence and development opportunities. These children need to continue living their childhood, playing, studying and living with other people", he highlighted. In addition to monitoring with neurologists, treatment includes specialized physiotherapy, monitoring of respiratory and cardiac function, nutritional and psychological monitoring, as well as adaptations that help maintain patients' functionality. ''Many children end up failing to participate in school, sports and leisure activities because they realize that they cannot keep up with their classmates. Therefore, taking care of social participation, self-esteem and offering psychological support is also part of the treatment'', he highlighted. Still according to the specialist, each child evolves differently, which requires individualized treatment. "In our experience following Pedro and Tiago, we realized that each child evolves in a different way. Therefore, the treatment needs to be designed for each patient and continuously monitored", he added. Tiago Rodrigues, 7 years old, during a medical consultation; he needs to be monitored by specialists since the diagnosis of the disease Personal file Diagnosis Fabíula Fleming said that, during her pregnancy and shortly after the birth of her children, nothing indicated that there was a genetic disease in the family. According to her, Pedro was born apparently healthy. However, the only characteristic that caught attention was that he had the flu more frequently than other children and tended to be tired during respiratory infections. “He started to have very high fevers, without explanation. We investigate everything. They thought about infections, viruses and even liver disease. We did tests practically every week and no one found the cause,'' he recalled. After changes in liver tests, doctors recommended a liver biopsy in Rio Branco. In search of answers, the family decided to travel to Brasília (DF). It was there that tests identified extremely high levels of CPK, an enzyme that indicates significant muscle damage. Initially, Duchenne muscular dystrophy was suspected. The genetic test ruled out this possibility and, after a muscle biopsy, the definitive diagnosis was made: Girdle Muscular Dystrophy type 2C. “When we received that diagnosis, our life changed forever'', highlighted Fabíula. Pregnancy When Pedro received the definitive diagnosis, at the age of 4, Fabíula was already pregnant with Tiago. The news of the pregnancy brought, in addition to the confirmation of the firstborn's illness, a warning from doctors about the possibility of it recurring in another pregnancy. “The doctor told us that my husband and I should no longer have children because of the genetic chance. But he didn't know that I was already carrying Tiago in my stomach. It was one of the most difficult moments of my life", he recalled. As soon as the youngest child was born, the family decided to do the genetic test in the first months of his life. While waiting for the result, Fabíula says that she lived for weeks waiting for the result to come back negative. However, the confirmation came precisely on the day that Tiago turned five months old. "When I received the news that he also had the disease, I completely broke down. The phone fell out of my hand. I thought my heart wouldn't be able to bear discovering that my two children had a disease with no cure", he reported. Pedro Rodrigues, aged 12, and Tiago Rodrigues, aged 7, live with Girdle Muscular Dystrophy type 2C, an ultra-rare genetic disease. bones and required a bone marrow transplant. “It seemed like one fight hadn't even ended and another was already beginning”, he highlighted. They follow up with doctors in Acre and also with specialists in São Paulo, a reference in the treatment of the disease. According to Fabíula, the teams maintain frequent contact to discuss the boys' progress and align medical procedures. "Whenever necessary, the doctors here talk to the specialists in São Paulo. We carry out this joint monitoring", he explained. In addition to periodic consultations outside the state, the brothers undergo specialized physiotherapy three times a week in Rio Branco, following protocols defined by the doctors who accompany them in São Paulo. For the mother, the routine of exams, trips and treatments completely changed the way the family sees life. "Discovering a degenerative disease changes the way you see everything. Simple things, like getting up, eating, going to school or receiving friends at home, start to have a very different value. We live between appointments, exams and medical follow-ups, always trying to do everything we can to ensure they have the best quality of life possible", he stated. Pedro Rodrigues and Tiago Rodrigues undergo physiotherapy to preserve mobility and slow the progression of the disease Personal archive At school, the two brothers also receive special support. Fabíula says that the pedagogical team sought to adapt the routine without compromising the children's autonomy. With Tiago, a teacher monitors the activities more closely. Pedro now receives attention from the entire school team, from inspectors to management. To avoid accidents during recess, for example, he leaves a few minutes before his classmates for lunch, avoiding the rush in the courtyard. Employees also remain vigilant to prevent falls. When Pedro began to show signs of sadness and difficulty dealing with the limitations imposed by the disease, the school began offering psychological care and adapted activities. "What I find most beautiful is that they do all this without Pedro realizing that he is being treated differently. They are concerned with preserving his autonomy", said the mother. Even in the face of limitations, Fabíula says that the family makes a point of allowing their children to continue living their childhood. "They continue to be children full of dreams, faith and the will to live. Here at home we choose to live one day at a time and not let the disease define who they are. That's why we continue fighting every day," he said. Treatment and hope For eight years, the family heard from doctors that there was no treatment capable of stopping the progression of the disease. However, hope began to change last year, when the neurologist who follows Pedro and Tiago in São Paulo participated in an international congress on muscular dystrophies and learned about the beginning of a study aimed precisely at patients with Girdle Muscular Dystrophy type 2C (LGMD2C), developed by the University of Florida, in Gainesville, in the United States. At the time, the medical team contacted those responsible for the study in an attempt to get a place for the brothers, but received a negative response. In March of this year, the first results of the research were released. According to Fabíula, the four children who participated in the first phase showed significant improvement, with a reduction in muscle inflammation and gains in strength. From then on, a new mobilization was carried out. In addition to family, doctors and friends began to contact the foundation responsible for the study. Medical reports were sent and the Brazilian team was available to monitor the treatment. "We achieved what seemed impossible. We received the news that it would be possible to include Pedro and Tiago. For the first time in many years, we were no longer fighting just to delay the disease. We were faced with a real opportunity to change the story of our children", he highlighted. Pedro Rodrigues and Tiago Rodrigues alongside their mother, Fabíula, and father, Márcio Fleming. The family seeks to raise funds for the brothers' treatment Personal archive Solidarity campaign Despite the selection, there is still a challenge. According to Fabíula, Pedro needs to receive the therapy before turning 13, the age limit for participating in this phase of the study. Today, he is 12 years old. To make participation possible, the family started a solidarity campaign to raise funds and help finance the research, which costs US$2 million for four patients, two of whom are Pedro and Tiago, involved through an invitation letter from the foundation that supports the study on the disease and which seeks to raise funds to finance the research. In total, the corresponding amount for both is US$1 million -- equivalent to R$5.2 million. The amount does not include travel, accommodation or stay expenses in the USA. "It's not just about my children. If the study doesn't continue, the cure won't reach the world. They discovered the cure, but it's not a marketable treatment yet. So, for example, if the study ends and the boys, receiving the therapy, are cured, the study ends and in a few years, if a child discovers that they have type 2C muscular dystrophy, they will have an existing treatment in the world", he said. The clinical trial, as professionals call it, must be done in four phases and the boys were involved in part two, where they already receive the application of the medicine that is not yet commercialized and which, based on the tests, needs to be approved by the US Food and Drug Administration (FDA). The overall objective is to raise R$5 million and donate it to The Dion Foundation, which supports research into the disease and which must guarantee institutional support for the boys' participation. "The pharmaceutical industry in general has no interest in investing in a medication that has no public. These clinical trials, the study to create this medication are being carried out by philanthropic resources in the USA. They are, basically, foundations formed by people who have [cases] in their families, this same family movement we are doing here to raise money and be able to contribute to research", he explained. She says that the family also intends to sell the house where they live and a farm to help cover other expenses necessary during the treatment. "We got the job. Now we need to overcome this last obstacle. After so many years of hearing that there was no cure, today I can say that it exists. I dream of seeing my children running, climbing a staircase without difficulty, walking into the church on their wedding day. I dream of being a grandmother, of seeing them grow and get old. I believe, with all my heart, that God didn't bring us here to stop here", she added. VIDEOS: g1 ´