In Spain, there are only about 100 people diagnosed with this syndrome, which consists of the mutation of a gene in the brain. It was discovered in 2011, which explains the great ignorance. These children have intellectual disabilities and a characteristic physical characteristic: very broad front teeth. Again, research is the key.

Iker he is seven years old but do not speak, need help eating and wearing diapers. “We knew from an early age that something was wrong with him, but we did not know what,” said his mother. Veronica Ramon. when the child fulfills three years, she and her father, Juan Manuel Heredia, they gave him the diagnosis: Iker suffers kbg syndrome, caused by a mutation in the ANKRD11 gene, the protein of which is found in brain neurons. This is maybe the rarest of rare diseases: According to Spanish Association of KBG Syndrome, in the country there is 100 people diagnosed, although they may be more, as there is a infradiagnostics over.

Evidence of the great ignorance that exists around the KBG syndrome is that the patient association It was created just a year ago. in it is 60 families from all over Spain, 10 of them live in Catalonia. “It is not known how many people are affected, it is estimated one person out of every million. But we believe that there are many undiagnosed cases, since the ANKRD11 gene was recently discovered, in 2011 “, Explain Joshua Fernandez, president of the association and father of a three-year-old girl with this disease. In addition to developmental delays and intellectual disabilities, two physical characteristics of these little ones is the large incisors and a slightly triangular face, with widespread eyes, wide eyebrows or prominent ears.

“KBG has previously been treated as a developmental delay. It has been confused with autism,” says the Spanish Association of Those Affected.

Although in recent years more research is being done until very recently, “nothing was known” about the KBG, according to Fernández. This is why many people have been diagnosed in the adolescence or with 20 years. “The KBG was previously known as a developmental delay. It was confused with autism. But it was unknown at this time what he did to cause the injuries, “said the president of the Spanish Association of KBG Syndrome. of the 100 people diagnosed in Spain, some 40 Has been detected last year. “To give you an idea that most have been diagnosed in recent years,” he adds. The association works for make the disease visible Y promote research, for which he raises funds by this link.

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The struggle of the families

Iker goes to a special school in Santa Coloma de Gramenet (Barcelona), where he lives with his parents. The mother remembers how the alarms started going off when she realized that her son “did not watch” Y “He did not progress like other children.” He also does not forget the day when, finally, when the boy was three and a half years old, the Vall d’Hebron Hospital of Barcelona called what Iker suffered. “We felt lost, we did not know which school to take him to, he just went speech therapist “, Ramon says. “I broke, it left me feeling bad.” The doctors explained that it is a very unknown syndrome, it Every child is a world “, that some “progress” while others “get stuck”. “We did not know where to go” adds this mom.

“I collapsed, it left me feeling bad. We did not know where to go,” said a mother who remembers the moment of her son’s diagnosis.

That’s where he started journey of this family to find other parents “who had the same problem. One of them told him about the association and immediately Ramón and Heredia got the whatsapp group of parents with children with KBG. “Iker’s day-to-day goes to school. He still does not speak, we have to help him eat, he wears diapers. He goes to swimming pool, he likes water a lot. “He likes drawings, music, balls, noise,” says his mother. Sometimes I do not know how to handle it all. It makes me a world. Sometimes he throws tantrums, he knows how to express when he is thirsty or hungry.

Gene therapy, the future

The clinical geneticist and head of pediatrics at the Hospital de la Santa Creu i Sant Pau (Barcelona), Susana Boronat, explains that there are no records of how many people are affected by KBG syndrome, something that is very common in rare diseases. “But it is being worked on,” he says. According to Boronat, there more than 150 cases of KBG reported in scientific journals around the world.

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“It is a disease caused by the mutation of the ANKRD11 gene, which causes a series of problems, such as e.g. growth delays. But the most striking thing about these kids is that they have broad incisors. This, as a geneticist, gives you the most important diagnostic clue, “ Boronate explained. Thus, when the geneticist suspects that it may be KBG, he or she gives the patient a specific genetic analysis to confirm or discard. “There are many children with intellectual disabilities, but if they also have these teeth, it’s a cut. It is very important for people to know that it can be a symptom of KBG in children with learning difficulties, value.

Research advances in the development of gene therapies that cure diseases such as KBG

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Boronate emphasizes the importance of make the diagnosis, since, the more the cases are known, the more knowledge there will be about them and the better the patients can be treated. “KBG syndrome has no cure, it does not yet have the gene therapy. The only thing there is is patient support. If they also have Attention Deficit Hyperactivity Disorder (ADD) or epilepsy [algo que tienen muchos niños con KBG]They will need specific treatments. they are just support treatments and very similar to other syndromes of intellectual disability, ”explains the geneticist.

But there is good news. Research progress in the development of gene therapies which cures diseases such as KBG. “In this case, it would consist of introducing the gene that does not work well into the patient. Gene therapy – which is the ability to cure children with genetic diseases – is starting to become a reality in some diseases such as e.g. infantile muscle atrophy, if it is applied before it goes any further ”, concludes Boronat. Research is once again crucial.

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