“There is still a lot of social learning, very difficult to go out with a disability child.”
They say in The hero of Spanish origin Which is 370 times more likely to get the greatest Christmas to get Champ1 syndrome, Ultrarara disease Only 10 people have been diagnosed in Spain so far.
One of them is MAR, MURCIA -The -old, which was diagnosed with less than two. In fact, when she was born, with the mutation, scientists did not discover this. “We have reached the limits of science, and we know that there is something, but today we cannot know,” they told their families again and again after giving them results Genetic tests.
Mar, according to his mother, Noria, was born without any clear problem. The natural birth and all the reviews appeared properly, even in the four months, something was changed, “I started seeing that I had stopped looking at myself, and it was not little by little, Stop responding to all incentives Hearing control, visual, and opinion … The pediatrician told us that it was like a computer that was separated from all devices, and until it was completely separated, we only had to pray … “.
Noria, a physiotherapist, did not remain intersecting, but he started stimulating “like madness”, “speaking with my comrades who made pediatrics, and we started at the Assarapace Association, which is cerebral palsy, where they welcomed us and still continue. During that time, what we did isA symptoms treatmentsTreating speech, physical therapy, mouth face … with the emergence of problems, we were putting spots … and we continued, from time to time reviewing the tests, because Everything indicated that it was a hereditary thing“.
In 2023, nearly 10 years later, they returned to genetics, since the last review, 2000 pathogens have been discovered, that is, it could cause changing diseases or syndrome. In fact, one of them was a hero 1, “the capital itself had to study first to tell us what we faced because it did not know, this was the first case he saw.
Diagnosis and find a “new house”
After the diagnosis, many things began to come, as Mar responded to many symptoms caused by this genetic change, such as Mental disabilityHarsh language disorder, severe sleep disorder or periodic vomiting … “MAR has been associated with hyperactivity disorder and lack of attention, ASD features and understanding everything, but try to speak and cannot. Periodic vomitingSometimes we control his sleep and others. We have to go to the hospital and put ONDANTRON to control it. There are many children with CHAMP1 who must be accepted because it does not stop vomiting. Before the diagnosis, we did not know the reason for this, “Noria says.
They also found, after a lot of research, a person who understood them, “I found a page on Facebook, CHAMP1, which is international and was all in English. I wrote and answered Stacy, a Scottish mother I always talk about because of that I changed my life. When answering, “You can be calm, you have already found your tribe, you are already at home.” So I felt, because you finally find someone like you. “
The genetic world had to study the syndrome to tell us what we faced because it was the first case I saw
Thanks to that page, they learned that after five days, the first European conference was held from CHAMP1 in Italy, and therefore the four, Mar, Noria, his father and brother, “It was very exciting and comfortable, because when you spend nearly 10 years looking around your son and your son You don’t see anyone who looks like itHe remembers enthusiastically.
When they returned from Italy, they did this with the aim of searching for more Spanish families, and they found them. They already go for 10, and with eight of them He decided to create a Spanish champion 1, A group and association that wants to collect Spanish families that stand out, “We are united with the international group, but we wanted to eliminate the idiomatic barrier that we have a lot so that they do not feel lonely, because a little English. We want everyone who speaks Spanish is welcome.”
Also, each of the angle, but United, seeks to investigate, “There are open studies in the United States, in Japan … but above all it aims to Language improvementAnd not only in the hero 1. In Spain, we could not start anything, although we are united with the international. In fact, all the children who went to Italy took blood to start their studies worldwide and Standardization of standardsNoria says.
Fighting with day to day, but with a smile
During the creation of that great small family, fighting to make the hero 1, Noria and his family continue with day to day, “due to the lack of an investigation, all that we left is it Treat symptoms and try to improve your independence And the quality of its life with professional therapy, speech therapy, physical therapy … and its vision in neuroscience, in psychiatry, in the digestive system … but this is the case in the sea, because the condition is different in every child. There are a lot who also suffer from respiratory problems or Epilepsy“.
The sea has 3 degree of accreditation, 95 % disabilityAnd it is one of the things you claim, because it complains that it is difficult to reach Disability Y Accreditation When you don’t have a name, “it’s very unfair, because there are a lot of people who have a lot of influence who have no diagnosis. March 47 % before he had” delay in development “only, and he was not justice, because he was not independent on any side. Just a sign, you have no greater recognition, but it was not before?” He asks.
At home, in its vicinity, Everyone goes toSomething that helped them in difficult times, “the family turned from the beginning, and friends are always … and this love is the person who makes you swing, because at the beginning it is normal to drown,” as he admits.
In addition, within their society, everyone knows and worships it, but it regrets outside that closest environment, not that. “A lot of social learning is missingIt is still very difficult to go out with a child with disabilities, because you find great people, and another makes you feel bad, and this happens every day. When you see a specific appearance, your mother’s heart suffers a lot, and I know it is a very big demand, but we must, as a society, must, Learn that diversity is goodBecause, in all sides, it improves and enriches us all. “
Despite everything, Nuria believes that he has many other things he thanks, like his older son, David, who loves his sister, “I am amazing. I always say that. Brothers of children with disabilities They are equally distinctive, more mature, with a special sensitivity … I have recently read that if you want to know how to treat a child with disabilities, look for what he is doing He treats her naturally“She has improved a lot thanks to her desire to imitate him,” he says enthusiastically.
Another thing to thank him? The smile of the sea and all children with the Levant 1, which which They smile, Wooddon and very attached. In fact, “CHAMP1 Day is celebrated on March 20 because it is the Day of World Happiness and when the spring begins, because this is exactly what represents them, the vitality and the desire to enjoy life.” The desire to live in Noria wants to be injured because we are “present, even if we are a little, and we are important, the minorities are also imported.”
