Sotos syndrome affects only one in every 15,000 people. Due to its recent discovery and its small incidence is still one of the diseases forgotten by society.
John is aware that it is harder to learn than their classmates. And he makes it known to his parents when he is frustrated. With eleven years old, his life begins to unravel because of puberty. But his family is already accustomed. When John was born, larger than normal big baby. From the beginning, her mother knew something was not right. His broad forehead, lack of strength in your muscles, the problem eating … it was clear that something was wrong with her baby. Later they discovered that what affected Juan was a strange condition called Sotos syndrome. This is the story of one of the thousands of unknown diseases.
What is Sotos syndrome?
According to estimates, Sotos syndrome affects one in every 15,000 people. is a genetic disease and manifests itself differently in each person . Some of the common features are a very broad forehead, small nose, distinctive facial features, low muscle tone, big bones, like hands and feet. Some affected also have back problems, thinness and other physical features. Within the Sotos syndrome also can give other problems that are not seen. For example, the arched palate is typical, so is an advanced bone age
children with Sotos syndrome usually grow very fast in its early stages, much more than other children without the syndrome, then growth stabilizes. You can also give a delay in psychomotor and cognitive development , although this manifests in each person very differently. One of the most critical aspects of this table is the incidence of certain tumors, which may be higher in these children. Luckily, once you spend ten years as pointing to some studies, the chances of a tumor are adjusted in number to the rest of the population.
Over time, many of the features of the syndrome Sotos are attenuated and smoothed. Sometimes the syndrome is not easy to identify, because the features are not too marked . The Sotos was described recently in the sixties, and is currently a very strange picture. Although medical research is making great strides, many aspects of this syndrome are still unknown. This greatly complicates the task of diagnosis and, above all, treatment, problem they face every day John and his parents.
As with , the origin of Sotos syndrome is in the genes of the sufferer. So far, what we know is that is an autosomal dominant disease . That means he is in a gene transmitted by parents whose presence is crucial. The gene is located on human chromosome 5, and encodes a protein called NSD1. This is responsible for assisting in the regulation of gene transcription processes, which is one of the essential processes to “translate” the information regarding protein genes necessary for life. This is the problem that is often used to diagnose the disease through a genetic test
But John’s parents do not suffer, none syndrome. In fact, none of his brothers is equal to John. Nor has there been any cases in the family before him. This is because the mutation in the gene has occurred in the process of reproduction, so “spontaneous” . Only in the case of Sotos syndrome suffer from it can transmit the disease and the odds are 50%. As explained, still more research is needed. Much more. Currently it is suspected other genes capable of causing the syndrome. There are people who also suffer from some manifestations of the disorder without having a mutation in this gene. Are diagnosed as “possible Sotos” due to lack of knowledge we have.
A day in the life of John
The life of John, in many respects, is equal to that of any other child. He is restless and cheerful. Sometimes a little hyperactive, a result of the syndrome. Of course, your condition forced his family to take special care . Here is where some problems in their daily lives. For example, in the hospital, the pediatrician in charge of caring for Juan, but efficient and committed, had never treated anyone like a child. In fact, hardly I knew syndrome until one day I ran into John’s mother and the child in his arms, long ago. But the biggest problem of the family is probably in school.
“Being so new, information is lacking to address it in education or even in the field health “ Juan needs a feature attention. Sometimes it costs to learn concepts or sustain attention. They have already changed schools once. “We are forgotten,” account for Hipertextual Monica Rodriguez. The president of the Spanish Sotos Syndrome Association explains that “when such a new disease, lack of information to address it in education or even in health. ” Thus, John is in school integration, where share class with others who do not have their needs and also the teacher, there is a technician who spends time every day.
But her parents are not convinced of the result. Even despite the great efforts made by the school, John returns home frustrated sometimes. The address fails to fit John in the class. “ No specific training to treat people with Sotos syndrome in schools ” insists Monica. Often, children with Sotos syndrome need special attention, but the “newness” of the syndrome causes a serious lack of knowledge in society.
Unity is strength
The Spanish Association Sotos Syndrome was created in 2009 to give a voice to people like John and their families. Not only voice but also assistance. Madrid in Spain has the support of a genetic unit and a team completely dump in the Hospital Universitario La Paz . However, the rest of the patients with Sotos syndrome are not always close to specialized personnel who knows the disease.
Since the association fight because Sotos syndrome is known, because we listen and because more money is intended for research to better understand how it works. That one of the main objectives we have.
As we explained Monica, is currently difficult to obtain funds to investigate this syndrome. The association has managed private funds to boost medical studies about it . “It’s very difficult to raise money for a disease whose research has a high cost and affects so few people,” he says. For now, the efforts are paying off. Several investigations have succeeded greatly expand the knowledge we have of the disease to date. In short, if all goes well, could reveal new investigations on the genetic functioning of Sotos syndrome.
But besides the important role in the investigation, the organization also works to guide and support families like John. So can advise or contacting with other patients and professional to help them in their daily lives. Unfortunately, the Spanish Association of Sotos syndrome is an exception rather than a rule. In other countries affected groups are much smaller and with fewer resources. In some countries, especially in Latin America, the disorder is virtually unknown despite the important efforts made by existing organizations.
A long way to go
As mentioned, the syndrome Sotos is still one of the great forgotten by society. Many people are completely unaware. The images of children and adults with Sotos syndrome are not as media like those of other diseases also considered rare. That makes it difficult to combat the negative effects and properly care for those affected. In the Association, like the parents of John, do not want to victimize their situation . Luckily, John is a happy child and is growing healthy. Of course, they have problems they face every day.
These are precisely those who should be less and less. Because they can solve. They are often problems arising from the lack of professional knowledge and specific training. This, in turn, is a consequence of short time disease is known as well as the limited number of scientific studies exist compared to other diseases. But each passing day is a new step forward. One more step on a path that, although it is still long, gradually becomes more simple both for John and his family.
March 21, 2016
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