Tomás clings to dad’s arms as he clings to life.
He is one year and three months old, he is stable at home; she smiles and crawls, activities that she hasn’t been doing calmly for a while.
Her weight is less than seven kilos, when it should be between 7.8 and twelve kilos, after more than two months of examinations and exhaustive studies, the name or surname of her illness is still unknown, she is an orphan, say the specialists.
Like most rare diseases, diagnosis can be delayed.
The case
Tomás Andrés Palomino’s process began in November 2022, “he began to lose weight alarmingly, he presented fever and mouth sores, which was what led us to go to the hospital, we are in the process of seeing what he has.” . It is a kidney disease, there is talk of a malformation or other diseases, but I don’t know, they are being studied, so there is no treatment yet,” says Juan Carlos Palomino, father of Tomás, who shares his story in the framework of the commemoration of World Orphan Diseases Day.
The last few months have been challenging for Juan Carlos, his wife and their two children.
At the end of 2022, they arrived in Colombia from Mexico, where they lived, “with other plans than going through what we are experiencing now (…) Due to Tomás’s symptoms, on December 5 we consulted the San José de Buga Hospital and they transferred us to the Hospital Universitario del Valle, we were hospitalized for two months”, narrates Juan Carlos when thanking the Valle Health Secretariat for helping them with the affiliation procedures to the health system and the CroniCare Foundation for the support provided in this process.
Tomás is one of the 550 cases of patients with orphan diseases that are treated in Valle del Cauca.
Priority
The Secretary of Health of the Valley, María Cristina Lesmes, states that for her office “patients with rare diseases are a priority in their identification and management.”
In Colombia, one in every five thousand people is diagnosed with a little-known pathology.
“There are a number of diseases that are called orphans, rare diseases, but that cause great disruption to families and disability to patients. We take this opportunity to remember that there are special regulations in the department for the care of families and they must be protected by the general social security system and that we must generate knowledge about them” asserts Lesmes.
Commemoration
Since 2008, the World Day for Orphan Diseases has been celebrated around the world, on the last day of February, to sensitize the population that there are orphan diseases, that their confirmatory diagnosis could take between five and thirty years and that health care it must be timely.
For this reason, during this week the Valley Health Secretariat, together with foundations that support these people, carry out educational activities with medical specialists and families who will share the advances that have been made regarding the management of these patients.
The most common
Among the most common orphan diseases are: sickle cell disease, Multiple sclerosis, autoimmune chronic hepatitis, von Willebrand disease and bronchopulmonary dysplasia, in most, the signs and symptoms can be identified from birth or childhood.
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