“I do not rule out that my son would be dead if he had not moved heaven and earth for treatment”

There are only ten people in the world with him. Van Esch-O’Driscoll syndrome and one of them is César, son of Beatriz Martín, a mother who has not stopped fighting so that her 3-year-old son can have a future. The disease affects him at least at the cardiovascular level, in the respiratory area and causes sepsis, developmental delay, eating problems, seizures and autism spectrum disorder.

Despite the severity of the symptoms, it was difficult for Martín to be taken seriously by the doctor. «They told me that he was exaggerating, but I do not rule out that my son would be dead if he had not moved heaven and earth to get them to treat him,” he says in a conversation with ABC.

«The diagnosis was horrible. You as a mother notice that something is wrong. In rare diseases the problem is that, as it is unknown, in the eyes of doctors there is something, but on paper there is nothing because there is no name », he explains.

During the pregnancy they already realized that César hardly grew and when he was born everything was very slow. «They told me ‘it will grow up’ when it has never grown‘he will eat’ when we had to save him with a probe, ”laments Beatriz.

After four admissions for sepsis and being recommended to give him purees while he was severely malnourished, the little boy’s parents decided change hospitals to treat your child. For this they had to request a specialty that was not in the hospital where they were at that time.

In the new center they discovered that he had IGF-1 deficiency, so they supplemented experimental growth hormone. “She was there for a while and it seemed that she was doing better, she did not have sepsis, her immunity improved, the seizures disappeared and she was growing,” says Beatriz.

In the meantime the family remained without a diagnosis, so the hospital decided to stop the treatment. According to what the health workers told them, the growth hormone was incompatible with other syndromes that had not yet been ruled out. However, “they did a thousand tests and those syndromes did not come out,” Beatriz denounces.

Faced with the hospital’s refusal to continue with the growth hormone treatment, the family looked for other options and tried to have him seen in the Vall d’Hebron so that they could investigate his case and come up with a diagnosis.

At first they accepted his case, but after a few months, the doctor at the Catalan hospital informed him that he could not treat César because Van Esch-O’Driscoll syndrome did not belong to his specialty. «I found out about my son’s diagnosis from a third party and not by his doctor because they had talked about it in a congress and I didn’t know anything, “he criticizes.

Private treatment of 1,000 euros per month

After this, the family sought help in private healthcare and is now in the hands of a growth hormone specialist in Madrid who was head of the La Paz Hospital. “He hasn’t even been in treatment for a year and the doctor already tells me that It’s impressive the change that has given. And I notice it. I see an improvement because he is present, he tries to communicate, relate, etc. », she indicates.

Despite the improvement, César is a dependent child with special needs, with the cost that this entails, we must add that the private treatment involves an outlay of about 1,000 euros per month.

“If before we ate ribeye, now they have lentils,” says Beatriz. And it is that both parents are autonomous and do not have help from their family because they do not live in Andalusia. Still, for Beatrice, the treatment is worth it for the advancement of your child. “For head growth there is no longer a solution because there is microcephaly, but now I would not allow myself under any circumstances if I did not have growth hormone treatment,” she says.

To this medical battle that Beatriz recounts with her heart in a fist, we must add the school battle, since she had to fight for her school to have caregivers for children with special needs like her son.

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