May 12, 2021

The encephalopath without name of Noa – The Province

The encephalopath without name of Noa - The Province

They have been fighting for years for the health of their daughter, Noa, a three year and three month old girl who does not hide her desire to crawl, throw herself down the slide and play, even though a rare disease greatly limits both her mobility and her express yourself. With that desire to live that gives off the small and in full daily battle to improve their skills, Noa's parents have decided to turn to the press to try to locate the other seven people diagnosed around the world with the same alteration as her, as explained by the neuropaediatrician of the La Fe hospital that treats her.

"It is a disease that has no name and we know that it makes it more difficult, but locating the families of others affected would allow us to know something more about it, to know how they approach it, what treatments they have tried or what life expectancy there are," they explained. Guillermo Chinchilla and Zuleima Alfonso, two neighbors of the Port of Sagunt who do not lose hope of being able to find other people with the same genetic mutation and identical symptoms, even in other countries. "They told us that they probably are not in Spain because the case would have reached the ears of specialists from La Fe, who are in contact with other provinces. By the Law of Data Protection only we have been able to say that, of the other seven, there are two brothers. But just now we can find one, "they said.

Noa was diagnosed with rare encephalopathy months ago. «After a genetic study at La Fe hospital they concluded that he has a problem with the CACNA1A gene. It's something that happens once in a million, according to what they told us, and it has happened to us. It's like that, "Guillermo told naturally and proudly" to have a special girl. "

Until that genetic study, there were many previous steps. According to his mother, "The first symptom that something was not right came at six months, with your hips. At that time, he was ordered to undergo rehabilitation at the hospital in Sagunt and that was corrected. We were also surprised that he did not crawl or walk, when others of his age did. That's why at first they thought it would be a muscular problem, until they finally saw that it was not, that it was cerebral. From there, there was no shortage of diagnoses then discarded, such as having a Rett or Prader-Willi syndrome.

In search of a second opinion, they did not hesitate to go to the Sant Joan hospital in Barcelona in May 2017 and although it was in La Fe where they did the genetic study in the summer of 2018, now the treatment that the little one follows is the result of the evaluations made in the two centers. "We know that the best specialists in leading public hospitals are taking it and in that sense we are sheltered," said the father.

In addition to that monitoring and treatment with medicines, Noa goes weekly to physiotherapy at the Sagunt Hospital and goes to the pedagogue of the Sant Cristòfol special education school. Since June 2018, he also attends several times a week to the speech therapist and occupational therapy at the Hospital de la Malvarrosa. All an effort with which, according to his parents, "he has made important advances"; a progress that they hope will go more, especially, if they find people who have gone through the same thing.


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