Carmen López was born 21 years ago with spinal muscular atrophy (SMA), a neuromuscular diseasegenetic and hereditary which affects approximately 1 in 10,000 births.
SMA is characterized by the degeneration of motor neurons in the spinal cord, causing progressive muscle weakness and atrophy. In fact, Carmen, diagnosed at 15 monthshe never managed to walk or crawl.
Nevertheless, she considers herself lucky for two things: to have type 2 of the disease while the most serious is type 1, with a very short life expectancy, and to have been able to access effective treatments for slow down the disease.
Indeed, he continues his studies normally and plays two high-level sports: hockey and footballboth suitable for playing on a chair.
Plus, there’s still time to participate in campaigns, like the one they jointly created Rock and the Spinal Muscular Atrophy Foundation (FondsAME), ‘lAMElodía’an awareness campaign that uses music – a song composed by artist Travis Birds– to tell the experience of those living with the disease, “every time they ask me to participate in a campaign, I always say yes, because if we want research to find treatments or a cure, people need to see us, they need to listen to us and they need to know what SMA is, and at the moment they don’t, because it’s a very rare disease,” he says.
Not knowing about the disease can lead to misdiagnoses, as was the case for Carmen, who was diagnosed with asthma. At 15 months, they already saw that their breathing problems were not due to asthma, but to SMA, a disease for which moves on a chair since he remembers it, “I’ve always moved like that, I had my first electric chair when I was 3 or 4 years old,” he tells us.
I noticed that I am different, because there are things that are much more complicated for me, but my environment has not limited me
A “normal” life despite SMA
As soon as the diagnosis arrived at Carmen, after the surprise, as there were no more cases in the family, her parents got to work, “they were always very involved and took me to all the therapies they found, but what they said to my parents when they gave me the diagnosis is that I wasn’t going to reach adolescenceand there was nothing to do. Fortunately, they decided to fight,” he says.
They decided to fight and after discovering that of the four other siblings, two were carriers and two were not, and that no one else was going to develop the disease, they focused all their efforts on improving Carmen’s life.
Fortunately, at the age of 13, he participated in the clinical trial of a Roche drug, now approved as a chronic treatment, and obtained significantly slow down the disease. Last year he had the opportunity, thanks to FundAME, to participate in another clinical trial in the United States which lasted two months and he managed to regain strength in his arms, “with the drug, what I noticed the most is that slowed the progression of the disease or I slowed it down a lot, because over these years I don’t notice that it has gotten worse, neither motor nor respiratory. In addition, I notice details that may seem trivial, but which are important to me, such as resistance to writing; before, my hand was more tired. There is hope, a lot of research is being done,” she says enthusiastically.
Being able to access these treatments, the effort and the possibility of her parents to give her the best therapies and the attitude of her environment towards her have meant that, despite SMA, Carmen leads a fairly normal life, “I feel very lucky because my whole environment has made everything very easy for me, my family and my friends, at school, at university… my disability has been normalizedthat’s why I never went through difficult times in which I felt alone. Obviously, I noticed that I am different, because there are things that are much more complicated for me, but my environment did not limit me,” she says proudly.
Not only did they not limit it, but improved their skills. On the one hand, in studies, and he is currently studying genetics, and on the other, in sport, where he trains and competes at the highest level: “I studied in the same school as my four brothers, the teachers understood the situation very well and always tried to adapt to what I needed. Last year, for example, I had to spend two months in the United States to clinical trial and the university allowed me to take online courses. In that I was very lucky,” he says.
What limited him the most were back operations – he had four – and rehabilitation: “I six hours of physio per weekno more doctors… but as my life has always been like that, for me it’s normal. But above all, they limited my surgical interventions, because I was in a lot of pain and had to stay in bed for a long time. In fact, I lost a year of studies because during an operation I was in a lot of pain and I couldn’t go to class,” he recalls.
Living with a disability is a cost that not everyone can afford.
Champion of Spain… and everything that comes from it
In addition to being a good student, Carmen has become a great athlete,”I have been playing hockey for 10 years. I started playing in a small school with other kids and four years ago I started competing. Now I’m in the national club league, I’ve been in the regional team for three years and I’m pre-selected for the Spanish team. In 2024 I was in a tournament in Belgium and in 2025 in Switzerland. I hope they finally select me for to be able to play the World Cup in May in Finland“.
Being admitted to the university’s elite athlete program made her life much easier, so much so that she decided to expand her sporting activity, because Two years ago he discovered wheelchair football“I participated in a tournament, we won it and now we are in the first division with the Leganés Sports Club,” she says proudly.
Sport, in addition to giving him the same things as any other person, “like perseverance, effort, teamwork…”, gives him share space and experiences with other people with disabilitieswho in his daily life does not have the opportunity, “you see realities similar to yours, people with whom you can share things that your environment does not understand, or does not understand in the same way, or harsher realities, which makes me learn a lot of values and feel lucky on many occasions”.
Seeing these realities encourages him to continue fighting for everything that is still missing, and not just in terms of research, especially in terms of resources for families of people with SMA and other rare diseases, because “while treatments or cures are coming, there are many things that families need.” Living with a disability is a cost that not everyone can afford.. Many families cannot afford it, and many people whose quality of life deteriorates because they do not have access to the therapies, wheelchairs they need or because they cannot adapt the house.
In addition to sport and supporting the cause, he wants to contribute to research, and that is why he decided to study genetics, a subject that has been very present throughout his life: “I have heard a lot about genetics as a patient, but as I have always seen closely the importance of knowing genetics, not only in SMA but alson many rare diseasesI decided to study genetics because I saw how important research is.
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