Since Martín was born, his parents live in a continuous struggle. First it was to have genetic tests done to find out what was wrong with her son. Now the family focuses on the little one having the best benefits in a system that is not designed for someone with his needs.
Martin, 11 years old, has a double mutation in the BRAT1 gene, which produces a syndrome that does not yet have a name due to how rare it is. The disease causes a lack of growth in the cerebellum and prevents him from walking and talking, as well as a lack of cognitive development.
“It is a disease that usually causes lethal childhood epilepsy, so there are not many cases. let it be known there ten cases described worldwidebut the doctor told us that there are probably children like my son who have not been detected”, explains his father, Alberto Alfonso Martín.
To detect syndromes like yours, it is necessary to carry out a genetic test called an exome. However, in Madrid Public Health they put him on a waiting list for years that seemed endless.
This is how they told it in a Change.org petition: «We fight for our son to have a genetic study called an exome done once and for all at the INGEMM Department of the La Paz Hospital in Madrid. We say ‘once and for all’ because the Hospital considers that our son’s case is not a priority and it seems embarrassing to spend years waiting to be included in the list so that he can access this test».
Thanks to the publication, a clinic contacted the family to offer them the test for free. In it they found the double mutation that causes its slow level of development. However, his journey did not end there.
In schooling, this family has not had an easy time either. In order for Martín to be in a school with a combined classroom, they had to move from Navalcarnero to Gradarrama, more than 60 kilometers away. «He is one of the only ones in the entire Community of Madrid who make a combined classroom. There were only two of this type and the other navalcarnero had architectural barriers”, Alberto denounces.
Not only have they had to distance themselves from their family nucleus, which was very supportive, but they have also distanced themselves from their workplace. «Now I do 65 kilometers to go to work and as many to return. The other option was to get the child up at 6 in the morning to go to school », he explains.
“I work to eat and to pay for my son’s therapies”
In addition, although when he was younger they managed to give him stimulation and physiotherapy sessions in early care, as he grew older, this help disappeared and they had to resort to private healthcare.
«We took him to physiotherapy and to the osteopath and before we also went to the speech therapist, equine therapy and hydrotherapy, but for economic reasons we have left them. We have no help and they are very expensive. I work to eat and to pay for my son’s therapies,” laments Alberto.
All in all, what Alberto asks for is very simple: stability in the teaching staff and staff who care for children like his son at school. According to him, his son’s speech therapist “changes every year, which makes it even more difficult for him to evolve” because “they take time to understand his needs, the child has to get used to it and gain confidence and when that is achieved, there is little time left to finish the grade”.