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The search for a diagnosis: they were told that their daughter had autism and discovered that she suffers from a disease that affects 700 people in the world

He is 8 years old, he is the first person diagnosed in Argentina with Syngap1 syndrome and there are only 700 cases in the world

When Charo Rodríguez (8) was six months old, her parents realized that He did not have a development similar to that of the rest of the boys of his age. He did not want to eat and he did not feel well. First came the consultation with the pediatrician and then with the neurologist. Later they began to study her and told her that her daughter was autistic. But parents, Valeria Tochetta and Sergio Rodríguez, did not remain silent before this diagnosis: they wanted to know the cause of their autism.

“In 2016, with the help of our neurologist, Nicolás Schnitzler, we did a study in a laboratory in Germany, since at that time it was not being done in Argentina. It’s called whole exome sequencing. That result showed that my daughter had a mutation in the SYNGAP1 gene, but in the laboratory they told us that they had no other record in the world. We feel upset: on the one hand, relieved to have found an answer, but on the other, very lonely”, Her mother, Valeria Torchetta, told Infobae.

“It was an absolute bewilderment. We were already coming from the initial blow of the autism diagnosis, which implies a before and after in any family. One feels very lonely, but luckily with the autism we had found a space in the Brincar Foundation, with parents who go through the same situations and one feels accompanied. It was a space for unloading, “he said.

Charo with her mother, Valeria: “I seek to raise awareness and make my daughter's case visible so that other children can also access an early diagnosis", he told Infobae
Charo with her mother, Valeria: “I seek to raise awareness and make my daughter’s case visible so that other children can also access an early diagnosis,” he told Infobae

“They told us that there are many diagnoses that are not achieved with absolute certainty, but the important thing is to focus on the treatments so that Charo can walk, talk and can manage autonomously. That’s how we started, because her father and I refused that they could not give us an answer about what our daughter had”, He expressed.

Since he was eleven months old, Charo has been doing various therapies: equine therapy, physical therapy, kinesiology, psychotherapy, music therapy, speech therapy, occupational therapy and practicing exercises in the water. Thus he was achieving significant progress.

Valeria said that a year ago they took up the agenda of genetics and they began to look outside the country for the news regarding Syngap1. They found an international NGO, which began to nuclear information on all patients worldwide and was able to determine that there are approximately 700 people in the world with this diagnosis. This entity raises funds, created an international association and finances research such as the ones currently being carried out in Barcelona and Los Angeles.

In family;  Charo with his mother Valeria Torchetta, his father Sergio Rodríguez and his brother Fermín, 5 years old
In family; Charo with his mother Valeria Torchetta, his father Sergio Rodríguez and his brother Fermín, 5 years old

“This international foundation made us find the same support that we had with autism. The fact of being the first in Argentina converted that feeling of loneliness into a need to search, to create a space to find more people who are going through the same thing and that we can join each other to improve the quality of life of other children. The more people know about this type of situation, we will be able to transform ourselves into a more inclusive society, “he said.

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Syngap1 syndrome is a very rare genetic disorder. It is caused by a mutation in the SYNGAP1 gene, which is located on chromosome 6 and creates the protein that bears its name, which, in turn, causes various neurological disorders. He was first diagnosed in 2009, in Montreal, Canada.

Among the most common symptoms are: autism, epilepsy, hypotonia, intellectual disability and delays in speech, motor skills and sensory processing, among others. Valeria seeks to publicize her daughter’s case so that those who receive a diagnosis of autism, epilepsy or intellectual disability, do not stop and carry out specific genetic tests to rule out this syndrome that, at the moment, has no cure or treatment.

Charo and his horse Top, with whom he enjoys equine therapy
Charo and his horse Top, with whom he enjoys equine therapy

“It is important that all those families who have their children with a diagnosis of autism, epilepsy or maturational delay advance in genetic studies because they are fundamental. For example, in the case of autism, it will help them to do family planning to know the real possibilities of having a second child with this disorder. Obtaining a diagnosis is a right and what happens to us is that the social works do not cover these studies, although with legal actions they end up doing it, “he said.

“The message I seek to give is: if you have a child with this type of diagnosis, consult a geneticist or neurologist about the possibility of advancing in the genetic search for the cause of their symptoms. It is a chain because as there are no diagnosed patients, there is no information or research, so we do not have a projection or prognosis.”, He expressed.

Valeria opened an Instagram account and another on Twitter, where she provides information about the Syngap1 disorder
Valeria opened an Instagram account and another on Twitter, where she provides information about the Syngap1 disorder

Charo’s mother stated that in Argentina there are only three diagnoses of Syngap: The first one that was found was that of his daughter in 2017 and this year two more diagnoses were obtained, a boy in Córdoba and another in Bariloche.

“The underdiagnosis of this genetic mutation has different causes. First, the ignorance of the disease. The second cause is the high cost of the genetic study that diagnoses it. The third is that the parents of many children with autism or epilepsy remain with that diagnosis and do not advance in the genetic search, “he said.

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Our great challenge is to obtain better diagnoses because this way we can promote research and achieve a cure or, at least, improve the quality of life of patients. We need the existence of this disease and the way to diagnose it to be publicized so that families who have children with autism, epilepsy, maturational delay or muscular hypotonia, consult their doctors about conducting genetic studies. But also we need the medical community to know about these studies and recommend them”He added.

Charo is the first patient in Argentina diagnosed with Syngpap1 disorder: in 2021 another two cases appeared in the country
Charo is the first patient in Argentina diagnosed with Syngpap1 disorder: in 2021 another two cases appeared in the country

Valeria says that, generally, history repeats itself when a parent realizes that there is something that is not entirely normal in the development of their child. The pediatrician makes a referral to the neurologist and the specialist doctor begins to perform a series of studies. Many times, professionals conclude that the child has autism because the characteristics of Syngap1 cause a delay in the development of speech. In fact, most are non-verbal, do not control sphincters and, having muscular hypotonia, have a motor delay that makes it difficult for them to start walking or sitting, although they later succeed.

“I say that history repeats itself because they tell you that your child has autism. Also, epilepsy is often detected, since a characteristic is that they have it in the form of micro-absences, with slight blinking of the eyes and not with a picture of seizures as one knows ”, he assured.

Valeria with her children, Fernín and Charo
Valeria with her children, Fernín and Charo

“Both autism and epilepsy are dealt with separately and, precisely, they are medicated separately. The rest is addressed with the common therapies of kinesiology, physiatry, equine therapy. It is everything that normally occurs in a picture of autism, but that means that the results of certain therapies are not represented in the reports about how one or the other impacts the Syngap1 pictures, which are very similar in all cases ” , he emphasized.

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During the 2020 quarantine, Charo and his family had a very bad time. The little girl did not go out on the street for 160 days, she could not do her therapies and neither could the specialists go to her house to treat her, which led to several crisis episodes that were very complex for the family to face.

The first departure of Charo and his mother after 160 days of quarantine
The first departure of Charo and his mother after 160 days of quarantine

“It was very hard, because he could not do any of his therapies and, among all of them, the ones he enjoys the most is equine therapy. Among the few words he says is the name of the horse he works with, Top. That already speaks of the bond you have, because you are looking forward to that moment. Through music he achieves a connection with the environment and can say some babbling. Another key therapy is with water, since the people diagnosed have a passion for this element, “he said.

Charo is very attached to routines and, suddenly during confinement, the family found themselves inside the house without being able to go to any of these spaces and without receiving a therapist at their home in order to advance with their treatment.

“There was no way to explain to him that we could go to the plaza, but that he couldn’t go up to the games. Going out for a walk meant that he did not understand that he has to wear a chinstrap, for example. We had to endure it at home and Charo, faced with certain situations of frustration due to not being able to communicate, has crises that involve self-harm, hitting, biting … The emotional burden of being able to contain these situations is very great for the family. During the months of quarantine, several of these crises occurred ”, he lamented.

Now Charo resumed his activities: he goes to school, attends all his therapies and, above all, he can walk on top of his beloved Top. “Normality made me stop having the crises because I couldn’t understand the situation. Now, he is much better ”, celebrated Valeria.

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