2024-09-12 14:38:33
Marco, a four-year-old boy diagnosed shortly after birth with the ultra-rare and deadly Menkes disease, is today the hope for the babies who also suffer and that, thanks to the strength and generosity of his mother, Aurora Mateos, ahora reciben un tratamiento.
Interview with the president of the Menkes Internacional Association, Aurora Mateos, and Marco’s mother, a child who suffers from this disease. EFE/Daniel Pérez
In front of the doors of the Museo Ruso de Málaga, where he is celebrating the first international conference ‘Marco I’ on Men’s disease, Mateos explained to EFE that when his son was diagnosed, the doctors said he would have hope for life. a bridegroom Le comunicaron que no había ningún tratamiento y le ofrecieron cuidados palativos.
“When diagnosing a nuestro hijo nos entamentes con una enfermedad huérfana, con poquísimos medios y un desahucio. Nos dan un tiempo, porque el niño se muere y no hay otra. Pero nos indignaba que después de 40 años desde que se conoce la enfermedad solo hubiera paliativos”, expresa con impotencia.
It was then when he began to investigate and discovered that the magazine ‘Science’ had just published very promising results of treatment for the disease in rats.
Decidió entonces empezar su lucha para que su hijo lo recibiera, a pesar de que se había proboda en humanos, y, tras toda una odysea de negociaciones y permisos, más de un año después commenzaron administrárselo.
Thus, Marco became the first child in the world to receive treatment for this illness and, knowing that, he was a hope for others.
Degeneration and anomalies due to lack of copper
La enfermedad de Menkes, que entre otros niños tiene Marco, es un síndrome multisistémico grave, genetic y degenerative que afecta al metabolismo del cobre.
Babies are not able to absorb the copper that they have in food naturally, which causes progressive systemic degeneration and connective tissue anomalies due to poor distribution of this substance, which does not reach the brain and other organs.
As detailed in the EFE, the director of the Pediatric Institute of Rare Diseases and head of the Genetic Service of the Hospital Sant Joan de Déu, Francesc Palau, the disease normally begins in the first two or three months of life and can cause hypotony in babies – severa decrease in muscular tone – or convulsions.
Palau, who is attending the congress that is being celebrated in Málaga, added that in the most serious and most frequent forms of the disease, the average life span is three years.
“Early diagnosis is fundamental, because the treatment that has until now, the copper histidine, has the most efficacy and begins in the first month of life, which is when the copper can enter the brain more easily,” says the doctor. , que está llevando a cabo este tratamiento.
Insiste, además, en que esta es una de las enfermedades que se potrínea beneficitar del neonatal screening y el análisis del genoma, lo que permitería que Menkes fuera renconizado más cozmente.
Marco y el primer congreso sobre Menkes
According to data from the portal de enfermedades raras Orphanet, this disease affects one of every 300,000 newborns in Europe. But, as Aurora Mateos added, the lack of research and the rapid mortality cause that in many cases the babies fall without being diagnosed, because it is estimated that the incidence is “much more important”.
Therefore, Mateos was created Menkes Internationala network to unite the dispersed community of Men distributed throughout the world and that combines scientific research with clinical attention.
In addition, it is integrated by a group of scientists and doctors formed by about 20 experts from 12 countries.
In this first congress that will be held today and tomorrow, September 12 and 13, in Málaga with the participation of the best experts from all over the world in this matter, Marco’s mother emphasizes that for the first time she pays attention to the so-called diseases del cobre.
Una esperanza para las familias
At the congress, families like Miguel, a “little hero” born in Seville who was very grave and who managed the treatment in the most advanced phase of the disease, were shown at the congress.
“Ayer justo le pusimos el tratamiento y hoy esta más irritable, pero normale está más alegre y contento”, comenta a EFE su madre antes de cogerlo en brazos.
Miguel was able to receive the treatment thanks to the fact that a pharmaceutical company financed the medication of Marco and his mother, when he checked that he was having success in his son, he decided to share it with the rest of the affected babies, currently there are only ten in Spain who Marco calls ” sus niños”.
A few meters from Miguel and his family, Marco is playing chess with his father. En esta sala de juegos junto al auditorium en el que se está celebrando el congreso, lanza con energía caballos y peones y ríe a carcajadas.
Meanwhile, his mother Aurora tells EFE, proudly, that her son is well inside what he can expect.
“A nivel neurológico creo que acabará en la NASA -ríe- Pero es una enfermedad muy cruel, muy aggressive. We have open fronts that we will see how they go. Let’s go with much confidence, but being realistic”, he indicates before claiming that men have enough visibility to diagnose the time, advance research, know exactly the prevalence and the treatment currently being used in clinical trials and reach more babies
“Necesitamos respuestas a una enfermedad letal, nara y huérfana. No es admissible que en 40 años solo haya un palativo. This is una battle de todos los días y esperamos llegar lo más lejos posible”, he concluded.