In 2009, economist Régis Feitosa Mota was shocked to discover that his eldest daughter, Anna Carolina, 12 at the time, had acute lymphocytic leukemiathe most common type of cancer among children.
It took the young woman almost three years to finish treatment with radiotherapy and chemotherapy against the disease. “After that, she got really good,” Régis, 52, told BBC News Brazil.
But that was only the beginning of a story that would forever mark that family of Fortaleza (Brazil). In just over a decade, there were 11 cancer diagnoses between Régis and his three children.
On the 19th, Anna Carolina died as a result of a brain tumor. He was the third child Régis lost to cancer. “In four and a half years I lost all my children“, the Mint.
He lost his youngest daughter, Beatriz, in 2018, due to acute lymphocytic leukemia. Two years later, another of her sons, Pedro, died of a brain cancer —He had previously treated other tumors.
While grieving the death of his children, Régis had to deal with his own health treatments.
Since 2016 he has been undergoing treatment for chronic lymphocytic leukemia. And in 2021 she discovered that she had non-Hodgkin lymphoma, a cancer that arises in the lymphatic system, the network of small vessels and nodes They are part of the immune and circulatory systems.
The cases in the economist’s family were linked to a problem he discovered in 2016: an inherited syndrome called Li-Fraumeni (LFS), caused by a genetic mutation that significantly increases the risk of cancer.
“It couldn’t be a coincidence”
Before his first cancer diagnosis in 2009, Régis says he and his three children were healthy and the family had no history of health problems.
After Anna Carolina finished her leukemia treatmentIt took a few years for cancer to become a concern again.
“The second diagnosis (in the family) was in 2016, when I discovered chronic lymphocytic leukemia after having symptoms such as fever, neck swelling and weakness,” details the economist.
The medical team informed Régis that his disease used to progress slowly and that he could live with it for years. At that time he started taking oral chemotherapy. At the same time, his son Pedro, then 17 years old, was diagnosed with osteosarcoma, a cancer that develops in the bone.
Added together, his two diagnoses, that of his son and the one that his daughter Anna Carolina had had years ago, caught the attention of the economist.
His and his son’s diagnoses, in addition to the one Anna Carolina received years ago, caught the attention of the economist. “We started to believe that these three cases could not be a coincidence. We decided that it was better to investigate,” says Régis.
He and his three children—Anna Carolina and Pedro from his first marriage and Beatriz from his second—underwent genetic testing in São Paulo.
“The results showed that I had a genetic alteration which, unfortunately, was also transmitted to my children, and which increases the appearance of cancer”, says the father.
According to the economist, no other close relatives of his or the mothers of his children have this syndrome. “We do not know the origin of my genetic alteration, because my parents do not have it. My father is currently 85 years old and my mother is 78. They are healthy,” explains Régis.
Follow-up for relatives
To understand the alteration to which Régis refers, it is first necessary to understand the TP53 gene. From it, the p53 protein is produced, which prevents the growth of tumors. This protein fulfills several functions in the cell cycle and tries to prevent the proliferation of cells that have errors, which give rise to tumors.
But for those who carry this mutation in this gene, there is inappropriate production or lack of production of p53.
“With that, the risk of developing cancer is much higher. The risk (among those with this alteration) will reach almost 20% at 10 years and, in adults throughout life, it will reach almost 90% “, explains medical geneticist María Isabel Achatz, who has been researching the issue for more than two decades and has already published studies on it in international scientific journals such as Frontiers in Oncology and Lancet Regional Health Americas.
This alteration in the TP53 gene is called Li-Fraumeni syndrome or LFS. Studies indicate that it has a 50% chance of being transmitted from father or mother to child.
According to the expert, the risk among these people increases for almost all types of cancer and points out that some of the most frequent they suffer from are sarcomas and breast cancer.
A carrier of this genetic mutation may have only one tumor, several independent tumors or even never develop the disease. But, in general, it is common for them to have a history of several relatives who have died from cancer.
Studies estimate that the incidence of people carrying a genetic alteration worldwide ranges from 1 in 5,000 people to 1 in 20,000.
Achatz, who is a doctor in oncology from the University of São Paulo (USP) and coordinator of the oncogenetics unit at Hospital Sírio-Libanês, warns that once a person is found to have the syndrome, other family members should seek follow-up doctor to find out if they also have it.
There is no cure, but the diagnosis allows a closer monitoring of the patient’s health and provides opportunities to detect possible tumors in time.
Achatz explains that cancer treatment for people who have the syndrome doesn’t change compared to those who don’t have Li-Fraumeni.
In the case of Régis, the tests showed that he has, and passed it on to his children, the classic syndrome, which is not the most common in the country and is considered more serious than the variant found in Brazil.
Three children deceased in less than 5 years
After the discovery of the syndrome, Régis and the three children began to undergo constant medical monitoring.
In 2017, when the economist was already celebrating his recovery and the good results of his son Pedro’s treatment, his youngest daughter, Bia, was diagnosed with leukemia. The same disease that her older sister, Anna, had suffered from before.
Bia was 9 years old when her treatment began. She underwent a bone marrow transplant, in which his mother, Camila Barbosa, was the donor. A year later, and despite treatment, the disease returned.
“We thought that he would recover, but the disease returned so quickly that he did not have the strength for another transplant at that time and he died in June 2018,” says Régis.
At the same time, Régis was dealing with his son Pedro’s fight against cancer.
“There were several years of chemotherapy. They considered him cured 4 times. Between treatment and treatment he led a normal life, because they were all successful,” says Régis. “Both he and his sisters were always positive and Pedro had expectations that he would heal.”
Pedro dreamed of graduating in electrical engineering. He attended classes for about two months, but left when he had to undergo treatment again. Until, in 2019, Pedro was discovered to have brain cancer.
“That time, unfortunately, he couldn’t recover,” says his father. The young man passed away in November 2020, at the age of 22.
“He was a boy with a highly evolved soul. All (my children) had highly evolved souls, they were completely calm and they liked to live happily. There was no sadness or trauma from the treatments,” says Régis.
The economist’s latest loss occurred less than two weeks ago, when Anna Carolina died after a harsh treatment for brain cancer. The disease was discovered last year, in one of the happiest periods of his life: when he was about to finish his medical degree.
“She wanted to be a doctor since she was a child, because of the time she spent in the hospital being treated for leukemia and also because of her (deceased) stepfather, who was also a doctor,” says Régis.
The daughter had no further diagnosis between 2012 and 2021, the interval between the end of leukemia treatment and until she was diagnosed with the new cancer.
“It was quite dramatic when she found out. She was full of dreams and expectations. She was engaged, she wanted to get married in 2022 and specialize in dermatology,” her father says.
She says her daughter believed in a cure for the disease, but came to accept that there was no other way when things got worse.
“From there he began to say that he had already accomplished his mission, he began to face it that way, saying that he had fulfilled himself as a person and that he had achieved his goal of being a doctor.”
“They never blamed me”
For Régis, the loss of children can be defined as traumatic and painful situations.
“It is the alteration of the natural order of life.”
The economist affirms that he never felt guilty for having the syndrome or for having transmitted it to his children. “My children said that I was as much a victim as they were.”
After facing the various health problems in the familysays that it completely changed his way of seeing life.
“Today my vision is that you have to live intensely, with maximum joy. My son said a very coherent phrase: nobody can measure the pain of the other. I don’t think there is a major or minor problem, the fact is that we cannot measure the other’s pain.”
Régis is still undergoing treatment for chronic leukemia and non-Hodgkin lymphoma. “These treatments do not have a deadline. For now I am not cured, only stable thanks to daily medication and monthly monitoring with tests.”
The economist says that he used all the money he had saved throughout his life on his children’s health treatments and that now he needs the financial support of his parents. He says that one of his goals for the future is to start giving talks to tell his story and also talk about overcoming obstacles.
A few years ago, he began to tell his story on social networks. “I started using them as a way to communicate with friends and family, to get them to follow us, but that ended up growing a lot. Today I get a lot of messages from people who say that our story impacted them in a very positive way,” says Régis, who is currently he has more than 185,000 followers on his @regisfeitosamota profile.
She also wants her story to give more visibility to Li-Fraumeni syndrome, so that other people know more about it and even follow up if they have the same problem or suspect they may have it.
About the future, she says that her main goal is to live one day at a time: “As my daughter used to say, I want to find joy in each day and try to see life in a way that sees light and happiness.”
“My son Pedro used to say that happiness is just a matter of point of view“, Add.
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BBC-NEWS-SRC: https://www.bbc.com/mundo/noticias-63808209, IMPORTING DATE: 2022-12-06 11:50:07
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