Rare diseases of low frequency in children can surprise any family in the world, but when they happen to one in a developing country, the consequences can be even worse.

The case of Cayetana, a ten-month-old baby from Quito, is an example of this. From the time he was born, he had problems that were not properly diagnosed due to ignorance of the disease he was suffering from: FOXG1 syndrome, a rare neurological disorder that causes severe physical and cognitive disabilities.

In Ecuador, as has already been seen in other countries with this syndrome, due to the small number of cases there is no greater knowledge or direction of research about it, which means that its treatment is not formal due to a lack of information and because care in Public Health in these cases is not referred to supported.

The only way to know if you have this syndrome is through genetic studies, which are expensive. Something vital to receive appropriate therapies to alleviate the symptoms, which are also burdensome.

This reality requires better communication with other countries regarding health issues and where there is more information about this type of rare disease, for example, the United States or Spain, to get a larger record of cases and see what has been done. , whether or not it worked in juveniles, especially because different mutations of FOXG1, a gene important for early brain development, can occur.

In addition to this syndrome, there are other diseases that, due to their low frequency, are beyond the knowledge of local experts. Having access to research related to symptoms or cases that may occur would help greatly. What is needed and what can be done is a question that must be asked by the whole society and the health authorities in order to find ways that will allow them to have such data at hand, but also the necessary financial assistance, since the costs are usually very high for families , bearing in mind that health is a right guaranteed by the Constitution. (OR)