Affected by a rare disease: "Every four months they give me infiltrations in my legs and I have a bad time"

He started walking very late, when he was 21 months old with frequent falls, but his relatives did not give it much importance after the pediatrician told them that it could be something maturing. The alarms went off after three years, when his teacher informed them that he was always clinging to his robe and that any push from his companions while running caused him to end up on the ground. A year later, Marcos GC from Zaragoza - who is currently 15 - was diagnosed with familial spastic paraparesis, an ailment neurodegenerative which mainly affects the upper motor neurons, causing stiffness and weakness in the legs, and which is considered a rare disease.

As he comments mother, María Jesús Carod, the young man has a lot spasticity (muscle tension) in the legs and also in the arms. "Before she walked more and now if she walks for more than 20 minutes at a time she gets tired and has pain. At the moment, she has mobility problems: walk in scissors with legs turned inward. In May of last year he had surgery to lengthen the Achilles tendon in his left leg. (he has been in a wheelchair for many months), which is the one most affected. It is not a fatal illness, but it is very disabling and progresses over the years," she explains.

Likewise, he points out that They still do not know the gene that causes the disease. "It can be hereditary or de novo. Genetic tests have been done several times; the problem is that so far there are 106 genes discovered but it is estimated that there are more than 200," says this woman, who, faced with this reality, demands more research to improve the quality of life of patients and also more aid for the Somos Pera Association (People and Rare Diseases of Aragon).

For its part, Mark regrets that I can't do sports and other activities like the rest of their classmates. "Every four months I get botulinum toxin injections in my legs and I have a hard time; it hurts me. I have a problem with my legs and I'm not walking well.", he says. And along with the medical treatments, the minor - who has a 33% handicap - goes once a week to physiotherapy ("private").

For María Jesús, seeing him suffer (he is an only child) is painful. "They have been hard years. There are tests that hurt and a mother has a hard time. What worries me is that the disease is getting worse, although little by little. It is a condition that can appear at any stage of life. and when a person is older they advance faster," he says.

In addition, it invites all those who request information about this condition to visit the website of the Familial Spastic Paraparesis Association (aepef.org).