SANTIAGO (AP) — When her five-year-old son was diagnosed with a serious genetic disease last year, Camila Gómez decided to put on her sneakers and walk the more than 1,300 kilometers that separate the southern island of Chiloé from Santiago de Chile.
On Wednesday, he arrived at the La Moneda Palace and met with President Gabriel Boric after touring the country’s roads for a month in a campaign to raise funds for medicine for his son, available only in the United States, and to raise awareness about rare diseases. and the need for accessible treatments.
Little Tomás Ross suffers from Duchenne muscular dystrophy, a genetic disorder characterized by progressive deterioration and weakening of the muscles. The United States is the only country that offers a drug to treat the condition, which costs about $3.7 million.
After receiving the quote last November, Gómez decided to undertake a trip to the Chilean capital and thus raise what was necessary to pay for the treatment, an odyssey that started from the town of Ancud, lasted 31 days and has been closely followed by Chileans. .
“Being away from my children is the most difficult thing. Being away from my house, from my home, from my comfort zone, from my privacy. That’s what has cost the most,” the woman told The Associated Press in the town. from San Francisco de Mostazal, about 75 kilometers from Santiago.
At his side walked Marcos Reyes, president of the Duchenne Families Chile Corporation and father of twins with the same disease. During the journey, dozens of supporters supported them with banners and warm words while cars and trucks cheered them on with honks.
Four days before arriving at his destination, Gómez managed to raise the necessary amount through donations to take his son to the United States.
“Here we are fighting for something beyond, bigger, for all children with Duchenne muscular dystrophy and to make (President Boric) note what is lacking in health here in Chile, which is a generalized discontent that they have made us feel in the streets,” he explained.
Because it is a progressive degenerative disease, Duchenne syndrome has a fatal outcome and patients “in the best of cases reach between 30 and 40 years” of life, said doctor Daniel Bórquez, academic at the Biomedical Research Center. from Diego Portales University.
When Tomás was diagnosed in March of last year there were no treatments or drugs available. But a few months later the United States Food and Drug Administration (FDA) approved the first gene therapy for this muscular dystrophy.
“Elevidys”, still in the clinical testing stage in other countries such as Chile and those that make up the European Union, is intended for the treatment of pediatric patients 4 to 5 years of age and its approval “addresses an urgent unmet medical need,” the director of the FDA’s Center for Biological Products Evaluation and Research, Peter Marks, highlighted in a statement.
Although there are several types of muscular dystrophy, Duchenne is the most common form and also one of the most severe. The disease is triggered due to a defective gene that results in the absence of dystrophin, a protein that helps keep the body’s muscle cells intact.
The first symptoms appear at 2 or 3 years of age with difficulties walking, climbing stairs or frequent falls. Because it is a progressive condition, most patients need a wheelchair around the age of 10 and ventilatory support to breathe at 20, explained Dr. Bórquez.
For Gómez and Tomás, the arrival of a drug on the market represented hope despite its high price.
“We had nothing for several months and we were in mourning, so to speak, suffering from the fact that our son had no other option than to follow the natural course of the disease. But when this came out it was like a light of hope for us and although the price was very high, there was at least something to fight for,” the mother stressed.
Father of 12-year-old twins with the same disease, Reyes pointed out that the objective of the campaign is to urge the government to implement health strategies and policies that allow access to this type of treatment. According to his calculations, at least 800 children suffer from Duchenne syndrome in Chile.
“What we are looking for today is a modernization of the State regarding timely access to this type of treatment,” because “what we ultimately seek is to save the lives of these children,” he said.
In the midst of the high popular mobilization generated by Gómez and Reyes’ walk, the Ministry of Health held two meetings with them during their journey to the capital, both unsuccessful.
In a statement, the ministry recalled that the drug is not approved in Chile and maintained that the accelerated approval of the FDA “does not mean that there is evidence of clinical efficacy of the drug” and, therefore, “further studies are required” to evaluate its effectiveness.
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2024-05-30 14:27:39