Less than twenty people in Spain have the 12p13.33 microdeletion syndrome and two of them are the husband and daughter of Lidia Mesegue. Leire, one year old, was born with a heart condition for which she had to undergo open heart surgery when she was just four months old. “We thought it was just that, that once she got over it, the nightmare was over, but it had just begun,” she says.
The little girl had no muscle tone, could not hold her head, ate very little, was dehydrated and had a fever. “They thought it was all because of the heart and we ended up in the ICU with seizures and very stiff muscles. In addition, it seemed that she was disconnected from the world and that she did not know us », Lidia recalls.
In a sea of doubts and without any diagnosis, at the hospital they were very blunt. «They told me I was going to be like a plant. But do not believe these things because children are surprising. I am tired of hearing that children who were not going to be able to walk or talk can. Let them try even if it seems impossible and it costs a lot«, she advises parents like her who found themselves with this harsh prognosis.
After this, they did an analysis in which they detected the microdeletion. As a result of that analyzing the blood of both parents and it turned out that the syndrome is inherited from his father. “As a child he had problems walking and talking and now he is a bit clueless. This shows that even though they have the same weird illnessin each person it develops in a different way«, explains Lidia.
Yours it is not a degenerative disease, but it is unknown if he will be able to recover all his abilities due to the little information that there is about this syndrome. “For now we are with speech therapist, physio and occupational therapy, in addition to medical visits with the nephrologist, hepatologist and pediatrician,” she says. Thanks to the early result and the therapies, the family has managed to get her to sit up and hold her head, but even though she is one year old, “it seems that she is between 6 or 8 months old,” says her mother.
“If I want my daughter to evolve, I have to leave my salary and not make ends meet”
However, all this has a cost. “After months of waiting, they offered us two one-hour sessions a month to stimulate her mentally and physically,” Lidia denounces. That is why they decided not to let time pass and went to private clinics. “If I want my daughter to evolve, I have to leave my salary and not make ends meet,” she criticizes.
Although both parents work, Lidia points out that her husband’s salary goes entirely to therapy and with hers they survive as best they can. And it is that the physio sessions (with a discount thanks to an agreement) are 20 euros and you need at least three per week, the speech therapist costs between 45 and 50 euros and is twice a month and occupational therapy 35 euros per session twice a week. To which we must add the displacements.
In addition, now that they are beginning to be able to stand it up, they have detected that will need a prosthesis on his feet because they twist and also a standing frame «so that his hips fit and his body gains strength. All of this is not covered by social security, only part of it,” says Lidia.
All in all, Leire has a normal life expectancy, since “Your body works but it goes slower” and the therapies take effect. «At least with the diagnosis I knew that my daughter was not going to stay in an intubated bed as they told me. It was a relief », she indicates.
That is why Lidia insists on trying what ‘a priori’ seems impossible. Although it costs a lot of time and effort, the work that is done with them works. What It is shameful It is that because they are a minority, it is not investigated because it does not pay off and on top of that they do not give you the support you need“, he concludes.