In all of Spain there must not be even a dozen people with the pathology that Guille suffered from. Those who discovered it named it Desanto Shinawi syndrome and it is rare among rare diseases. One of those that even most doctors don’t know. And, as often happens on these occasions, his parents had to struggle to reach a diagnosis and to provide him with adequate care, which included physiotherapy and speech therapy to stimulate progress. in psychomotor far from children of his age (two years and eight months. ).

It all started with what appeared to be a growth delay when Guille was less than a year old. And that is what many doctors at the Peace Hospital in Madrid have diagnosed. Quite a few, because she rarely sees them, said Laura, her mother. This, despite the fact that the first time he was treated by the neurologist who diagnosed him, he noticed it on his face, as soon as he saw him. “I don’t know what it is, but this child has a genetic syndrome,” said Alberto Fernández-Jaén, head of the pediatric neurology department at Quironsalud University Hospital in Madrid.

What gave him away was, in addition to his small size, “his forehead, small nose, shape of his ears, and his swollen hands and feet,” as his mother described him. Characteristics of the syndrome are developmental delay, hypotonia, speech delay, mild to moderate intellectual disability, abnormal behavior, and dimorphic facial features. Those who are used to dealing with children with these types of diseases will easily recognize it. Cristina Corral, the physiotherapist he went to, also noticed a fly syndrome (without specifying which one) before he had his definitive diagnosis.

But as in the case of diseases that are less common, for some professionals they go unnoticed. This is the big problem with rare diseases: patients wait an average of four years to get a diagnosis and, in 20% of cases, 10 or more years later, according to the Spanish Federation of Rare Diseases (Feder) . This entire time is the time lost in treatments and rehabilitation that can influence the life and development of the affected person.

Guille didn’t last long. When his parents saw that they could not understand what happened to their son, they went to Fernández-Jaén. The diagnosis happened in May, when Guille was more than two years old and his parents were not sure for almost a year and a half. “The tests cost 2,200 euros, but it is clear that if I have to stop eating, I will do it to find out what happened to my child,” said Laura. “He is two years old and he doesn’t speak. In addition, he suffers from frequent episodes of bronchiolitis and breathes like a French bulldog. As a mother, I was surprised how no one noticed anything wrong with her,” she continued.

When he was diagnosed with the syndrome, his parents looked everywhere for help, other parents to look for support, but they found nothing. The only place where they specifically treat this disease is in St. Louis (United States), where there are doctors who discovered it more than a decade ago. In Spain, as far as they know, there are only seven known cases and Fernández-Jaén estimates that there are less than a hundred worldwide, although he acknowledges that there may be many more. which has not been published in any scientific journal and many more. even more so without a diagnosis.

The doctor justifies the importance of finding the disease as soon as possible: “It is important, first of all, because you avoid unnecessary tests, which means that the family must be on a pilgrimage between the centers and specialists and cause a lot of suffering.Secondly, you can implement a specific program of stimulation and speech therapy, because you know which problems affect the child.

Good progress

Since he started working with Guille in April, Corral, his physiotherapist, has seen a lot of progress: “The work is focused on balance and respiratory problems. “Now he can move independently, something which I didn’t think was possible if we started before the summer.”

Corral, who specializes in neurological and respiratory physiotherapy, is used to dealing with parents who often ask for quick solutions. But none of these cases. “I chose to suggest the worst case scenario. I know Guille will walk, but I don’t know if he will do it without support, I think he will need a walker, which in the end he didn’t need. But not all children are as lucky as Guille, as not all parents can afford home physio and waiting lists for early care can sometimes last years “Your child’s health should not be conditioned by the economy,” he thought.

Daniel de Vicente, from the Feder board of directors, knows that it is common for parents to turn to private. “Although there are more and more diagnostic methods in the public sector, they tend to be delayed and end up paying, because the delay always causes the pathology to worsen; Even in cases where there is no treatment, support can improve greatly the quality of life of the patient and their environment, both physically and psychologically,” he explained.

Guille’s prognosis is optimistic. He goes and talks. “He says a word and many onomatopoeia of animals, which he likes very much; not phrases, not like his age, but he keeps moving forward,” said Laura. Its biggest problem focuses on the cardiorespiratory system. This month he was hospitalized for several days due to bronchiolitis. “And no one can tell us how it will develop, or if there will be new problems. This is the uncertainty in which we live. And we will not know if we do not investigate further,” his mother claimed. .

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