Little Sofia, saved by research on its rare type of leukemia

The small Sofia turned two on August 21 and did it with all his joy and health, after having spent half of his life without just force in the muscles to crawl, without great smiles and with a nasogastric probe to eat. As she realizes her father, Raimundo Hurtado, shortly at the year, "he was diagnosed with a very rare type of leukemia, with one of the worst forecasts and that less is investigated." If not for the work of the Cris Foundation against Cancer, "Sofia would not have come forward."

The reason for this 'sentence': youthful myelomonocytic leukemia. In the words of Antonio Pérez, director of the CRIS research unit and advanced therapies in Children's Hospital Cancer, "There are no more than 30 cases in Spain and has a five-year survival below 50%. That is, a Very rare disease by prevalence and with a very high mortality. "

The bad news came as a result of the symptoms of Covid-19 at Sofia's mother. Both parents had given positive and, as they waited at home, they observed "hoarse breathing" in the little one. After an analytical, the doctors who attended it in Córdoba detected certain anomalies through which they began to perform a battery of evidence with which they finally detected a genetic mutation responsible for the rare leukemia of it. She had to do an immediate transplant as a marrow.

However, the hopes were minimal: "We cried the death of Sofia every day," so the family began to look for other options until finding a research project of the CRIS Foundation against Cancer, in Madrid. They got in touch with the doctor who took him, Antonio Pérez. "The mutation of this type of leukemia conditions a very bad prognosis, with many relapses, and that is why we launched research," explains the doctor. "We have seen that these patients benefit from treatment based on a demethilant drug so that the disease is controlled before the transplant. These medications are not authorized in children (less than 20% of those we use in children with cancer are authorized)" .

With this treatment of eight sessions, they managed to stabilize Sofia and then transplant it with a not identical donor and here is another key to its current health status. "The less identical the donor, the less chance of relapse there will be (although the transplant is more difficult)". This was the choice of it for the little one and after the intervention of it, "we did cell therapy procedures, that is, we left lymphocytes with memory against her leukemia and a posteriori, we put the demeilant treatment again."

For Raimundo and his wife, the result has been "incredible". As explained by the specialist, "we have been seven months of treatment, with a very good clinical situation and, although it is early to talk about healing, the scenario has gone from being practically of imminent death to have a normal life."

Since May 5 "we are already at home. The girl is phenomenal. It returns to be the girl who was before. He laughs, to crawl, to eat normally, to play ... he has begun to speak and also to give his First steps. He gets up and falls asleep with energy. Amazing ". They only have to return to Madrid once a month, to the University Hospital of La Paz, to perform periodic infusions of Car-T cells.

Sofia "is a clear example of how research impacts on rare diseases of high mortality," says Pérez. An idea that she emphasizes coinciding that today is the International Day of Cancer Research. "Research is still a luxury, a situation that society does not yet value adequately, despite the pandemic. Independent, academic research, in universities, hospitals ... is done with very little support, with very few funds, With scholarship salaries, without work stability, with great volunteer [...] it is always necessary to have a plan that goes beyond what private organizations such as the CRIS Foundation against Cancer can do. "

There are more frequent types of cancer where you are advancing with pharmaceutical research, but in others, such as Sofia's leukemia, which affects only around 30 children in Spain, "we continue as more than 20 years ago and there is no interest in The pharmaceuticals ". For these cases, it would be convenient to put three, four or five centers with double resources, make research plan exclusively in pediatric cancer and with the purpose of cure this disease in the next decade. "

With rare diseases with high mortality, the strategy should be to "concentrate attention and knowledge in a few centers to have more experience, in order to do more research, move faster and improve the prognosis." It should be remembered that cancer in children can not be prevented. There is no preventive strategy. In adults, yes. Exposure to tobacco, alcohol or sedentarism influences ". In some way," administration should make a powerful research plan. "

In the same line, Raimundo recognizes and appreciates the work of the Foundation and the doctors who have attended Sofia because "if not for them, our daughter would not have come forward. They gave us life."

The type of leukemia of Sofia is not the only cancer whose survival is well below average. That of the tumors of pancreas, lung, esophagus and liver do not reach 20%. For this reason, oncological and researchers professionals claim a national, public and private investment.

Ramón Reyes, president of the AECC and the scientific foundation of the AECC, ensures that "it is necessary to correct inequity in research that passes, among other factors, by investigating all tumors and because all people have access to research results . There are more than 100,000 patients who each year develop cancers with low or stagnant survival that are less likely to survive than other patients whose tumors are most researched. " There is evidence that, in general, those types of cancer with better survival data also have a greater investigation.