Martí, a 10-year-old boy from Terrassa, has a different story from that of the vast majority of Spanish minors.. And this does not mean that it is worse, far from it, since he has had the support of his parents – and his most intimate circle – at all times, but it does something special.
Basically, because he is special, a child with a different essence that shines on his own, with a positivity that makes him stand out above the rest and a self-confidence – inappropriate for his age – that No He goes unnoticed by the doctors he regularly meets with.
Your story
Born in September 2014 with his twin sister, JuliaIt should be noted that she appeared healthy, but he did require respiratory support from the first moment. After five months in the neonatal ICU of the Sant Joan de Déu Hospitalin Barcelonaand seven years of research, have been able to diagnose your illness.
Great news, no doubt. This is an ultra-rare disease called protein deficiency. GLDNof which only four people have been diagnosed in the entire world and has no treatmentat least for the moment. And he, coincidences of life, is the oldest.
The beginning of everything
“Martí is the child who marks the future of this genetic disease. We are in the hands of science, research and trusting the entire Sant Joan de Déu team“, the mother explained forcefully, in statements collected by ‘The Country‘ a few minutes ago.
Like the specialists, the mother suspects that the number of affected people is clearly higher than that of those identified.as a result of the difficulty of diagnosis. What’s more, the young man has been part of a research project at the Sant Joan de Déu hospital and the Center for Genomic Analysis (CNAG).
The light at the end of the tunnel
Through an innovative genetic analysis, Martí has been able to contribute – and in a large proportion – to the diagnosis of 23 children with neuromuscular diseases. The study, whose results are published in the scientific journal European Journal of Human Geneticshas involved 58 pediatric patients affected by some type of neuromuscular disease.
For these families, “have a confirmed diagnosis it’s a step determinant to have the option of receiving a treatment that helps them improve their quality of life and, in some cases, even slow the progression of the disease,” he says. Sant Joan de Déu.
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