León, Guanajuato.- On February 28th, the world day for rare diseases a date that seeks to raise awareness about these pathologies rare and improve the lives of those who suffer from them.
One of these syndromes is Coffin-Siris, an illness that affects multiple systems of the body and that, although it is infrequent, has a great impact on the lives of patients and their families.
Said pathology may affect about 10 percent of minors who suffer from it and who have not yet been diagnosed.
This makes it especially important to make the disease visible and improve the resources available for diagnosis and treatment.
A disease with multiple symptoms
Coffin-Siris syndrome is characterized by a extensive symptomatology that can affect various systems of the body.
As explained by Alejandra Paredes Vila, president of the Spanish Coffin-Siris Syndrome Association (AESCS), the Patients may present neurological disorders such as seizures, epilepsy or hypotoniaas well as cardiac abnormalities such as ventricular septal or atrial septal defects, tetralogy of Fallot, or patent ductus arteriosus.
In addition, those affected may present malformations in the digestive system that generate alterations in the normal eating process, such as dysphagia, gastroesophageal reflux or hernias, as well as malformations in the locomotor system such as short stature, hypotonia, scoliosis, flat feet or general weakness.
Daily and permanent care
Given the complexity of the symptoms associated with Coffin-Siris syndrome, most patients have a significant degree of disability and they need care “daily and permanent”.
This can cause a member of the family to have to leave their job to care for them, which has a significant economic and emotional impact on the family environment.
insufficient research
Paredes Vila has pointed out that, despite the importance of Coffin-Siris syndrome, research on this pathology “is still insufficient” to understand elements of how and why it occurs and to have adequate approaches.
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For this reason, it is necessary to make the disease visible and support it so that Funds can be allocated to conduct basic research.
At the moment, research is underway at the Pediatric Institute for Rare Diseases of the Sant Joan de Deu Hospital Barcelona.
