“Four years ago, when I was in the bathroom at work, I couldn’t get up. I tried in all possible ways, in all positions, but I couldn’t… and I had to ask a colleague for help to get me up. Can you imagine the humiliation? Since then, everything has gone very fast. I have left work, I cannot go out, I need help to carry out any daily activity, to get dressed, to take a shower, for everything. I have stopped doing everything I liked and, worst of all, this is getting worse. Every day I lose a little more mobility.
This is how the Catalan Emma presented herself last September in the Congress of Deputies. She suffers from spinal muscular atrophy (SMA), a rare, neurodegenerative, very serious pathology that affects around a thousand people throughout Spain. SMA is a group of genetic diseases that damages and kills motor neurons (a type of nerve cell in the spinal cord and lower brain that controls movement of the arms, legs, face, chest, throat, and tongue). As motor neurons die, muscles begin to weaken and atrophy (waste away). Muscle damage worsens over time and can affect speech, walking, swallowing, and breathing.
Emma went to Parliament to ask for the support of the deputies for what, as she defined, is her only opportunity to “have a dignified life”: access to the latest treatment that is marketed against this disease. Because, the technical reports bet on giving this oral drug only to minors.
In November 2022, former minister Carolina Darias met with the Spinal Muscular Atrophy Foundation (FundAME) and promised that this drug, risdiplam, would also reach adults who, as a result of their state of health (such as Emma’s case), they could not receive a treatment that is administered through a lumbar puncture. Congress also approved a non-legal proposal to request that this treatment reach all patients (which are few) who require it.
But despite Darias’ promises and congressional support, the reality is that risdiplam, which went on the market in January, is not being administered to adults like Emma, ​​whose physical decline and dependency are increasing. “To deny it is to let me die,” says this young woman.
Given the situation of Emma and other (few) patients, the Spinal Muscular Atrophy Foundation (FundAME) has sent a letter to the Minister of Health, Manel Balcells, requesting access to this last authorized treatment for patients with this serious disease, recalling the commitment of Congress and the Ministry of Health itself.
“Emma had hoped to access oral treatment for SMA, but CatSalut is ignoring her, going against the advice of the doctor who ordered the risdiplam prescription and causing Emma added pain, increasing her despair at seeing life as it is. as he knows it, it escapes him. Waiting means getting worse and increasing dependence on it even more. Unfortunately Emma’s case is not the only one. We are aware that the Health Department is limiting access to or maintenance of treatment for people with SMA, blocking the prescription or decision-making capacity of our health professionals who, by the way, in Catalonia are among the best prepared in Europe about this disease â€, the letter states.
In the letter, signed by the president of this foundation, Antonio Hitos, Salut’s attitude is described as “inadmissible”, especially “when the Ministry of Health determined, by consensus with all the autonomous communities, to finance this treatment for all patients with unrestricted SMA. There are issues that can wait, but I assure you that people like Emma unfortunately cannotâ€, concludes Milestones.
