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The struggle for the life of Little Tiago

A Galician child manages to stop his muscular atrophy thanks to a drug that is not yet marketed in Spain and that the Xunta bought in Germany for its compassionate use

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The struggle for the life of Little Tiago

Last September, a few days after completing three years, Tiago was practised a lumbar puncture in ICU of pediatrics of hospital complex of Santiago de Compostela (CHUS). They extracted 2.5 milliliters of encefalorraquídeo liquid and injected same amount of Spinraza, a novel medicine against spinal Muscular atrophy (AME) that is not yet marketed in Spain because laboratory that supplies it, multinational North American Biogen, has not reached an agreement with Ministry of Health on price, which rounds 800,000 euros per person a year. The Small Coruña, however, was able to accede to him, becoming first Spanish patient affected by this genetic and degenerative disease in achieving it, thanks to a unanimous agreement of Galician Parliament that urged Department of Health to acquire Treatment in Europe.

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Two months after that first puncture, little Tiago, who has just begun school, can hold a pen between his fingers, so far curved in shape of a claw, and keep his back straight seated on couch. "Doctors are surprised by progress and, although I do not want to make too many illusions, truth is that degenerative process is already slowing, which in its case was very fast," explains his mor, Carmen Vázquez.

The Spinraza, approved in December 2016 by United States Health Agency and last June by European Medicines Agency, was acquired by Department of Health as soon as first European country, Germany, was supplieded. It did so in compliance with an agreement of Galician Parliament at behest of GaliciaAME Association, so far only collective of affected by this disease constituted in Spain, which understood that it could advance its administration if it was categorized as Drug of compassionate use (administered in patients with serious illnesses before ir official use in Spain) and was bought in Europe while Ministry of Health did not reach an agreement with pharmacist.

The victims feared that, as happened with delay in authorisation for use of drug that fights hepatitis C and that has ended with two high-ranking officials of Xunta charged with homicide for delaying its use for budgetary reasons, dilated considerably distribution. But in this case it wasn't.

"We still do not believe it," says president of Galician Association, Mercedes Alvarez. It narrates a exciting process undertaken by itself when it created collective after its late and uncommon diagnosis of disease, at age of 27. It was also his dermy that led association to present initiative to autonomous Parliament. "We thought it would be a long battle and we would have to end up encadenándonos in Parliament to get it, but in seven weeks we had everything fixed," he says, convinced that y have opened a door "for which rest of communities can enter" Spanish ".

GaliciaAME was clear about urgency of access to treatment. "We did not want to waste time because, since it slows down degenerative process, it is important to administer it as soon as possible," explains president reasons why it has begun to offer to all affected Galician, depending on age (from less to more) And degree of condition of a disease classified as "rare". The ailment is suffered by one in every 10,000 people, which causes a progressive loss of muscle strength that not only affects m to walk, but also to brea or swallow and ends up causing death by suffocation. Almost none of children who suffer from it exceed two years of age and so far re was no effective treatment.

After Tiago, two or small (one of m of just two months) have started same treatment in different hospitals of Galician public network. They will soon submit to him about twenty more people; Practically all those affected in Galicia. All but Mercedes, initiative's promoter. She was second person in Spain who was diagnosed with SMA at such an advanced age: she has a genetic mutation on a chromosome that is not usual. "After two and a half years doctors are still unable to find my genetic mutation although I am convinced that someday y will discover it, as well as a medicine that does not only serve to repair a specific chromosome," he argues, while at moment, he is excited about what He's got it for ors.

Now presiding association offers to help by providing its experience to or communities so that children affected by this disease can access Spinraza as soon as possible. "We are aware that it is not definitive cure," he says, "but it is a huge breakthrough that ensures small life expectancy and good quality."

With his three years barely fulfilled, Tiago is not aware of what happens to him. "It is very small and never asked anything although or day he was surprised when he found that he could open box of a toy," tells his mor one of first achievements of small after treatment. "I said, look, mom, I have a lot of strength now." Carmen does not know if his son will get up from wheelchair but is checking how disease not only slows down, but allows him to use his hands, already stretched like his back, to start at least a process of schooling under conditions . Because AME not only does not affect intellectual capabilities, but most patients often develop or extra capabilities.


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