In search of support for the 15 people with Syngap1 in Andalucía

Encarnación Postigo describes her daughter as follows: "Celia is 25 years old and suffers from Syngap1 Syndrome. She is a cheerful girl who loves to go for walks, although she can hardly do so any more, as the epilepsy she suffers from has sapped her strength. Her eyes still sparkle with joy when it's time to go for a walk, even though she won't be going very far and she carries her bag full of rescue anti-epileptic drugs in case something happens."

This young woman, who lives with her mother in Rincón de la Victoria on the eastern Costa del Sol, received her diagnosis thanks to a project at the Hospital Parc Taulí in Sabadell, Catalonia, "to the generosity of the clinicians at this centre" Encarnación points out "Before, her life was always marked by an intense prevalence of all the symptoms that the disease entails," the mother says.

Syngap1 syndrome is a rare genetic disorder, which is not inherited, arising spontaneously by mutation, first diagnosed in Montreal. Symptoms vary between each individual affected and can range from mild to severe. The most common symptoms include learning disabilities, epilepsy, behavioral challenges and autism as well as sensory processing disorder. It affects between one and four out of every 10,000 individuals. In Spain, the association that brings together the relatives of those who have the condition has already identified 60 cases.

"Although we thought for a long time that we were the only ones in Andalucía, little by little more cases have appeared and now, as far as we know, there are 15 patients. In Malaga there are already five, and we are joined by those in Cadiz, Seville and Cordoba," Encarnación explains.

"Although the families belong to associations and we are all connected to research networks and that is important to collaborate in possible research and to be informed, it is clear that we need support from nearby medical professionals in our region and that these, in turn, can carry out research based on a representative number of patients," explains Celia's mother.

"We ask that centres with proven experience in rare and complex epilepsies, such as the Regional Hospital of Malaga, can take in this group of patients for treatment and clinical studies".

Encarnación wants to see a "point of reference for patients" who, she points out, have serious problems in being able to travel to other regions for treatment. "To this must be added the costs and problems of follow-up outside Andalucía or the waiting time. It makes no sense for us not to take advantage of the resources, professional expertise and willingness to help that our Andalusian medical centres can offer. For all these reasons, Andalusian families have come together to seek support, to ask for funding so that initiatives and trials can be developed to improve in some way the condition of these patients who have no cure at the moment," says Encarnación.

This idea began when the mother of Jairo, a 17-year-old patient from Seville and Celia's mother, decided to put their respective specialists in contact with each other. "Now there are more of us and all the families want to be close and collaborate on future projects or initiatives. Celia has been a patient at this hospital for several years, where she has received quality medical care focused on her complex circumstances. These are very vulnerable people with many care needs and their daily lives and those of their families need to be facilitated," Encarnación explains.

Andalucía and specifically Malaga also collaborates in initiatives for Syngap1 research, like for example at the University of Malaga via the Horizon Europe Euras project.

Scientific work has also been carried out to identify the communicative and expressive profile of people with this syndrome, based on projects financed by the University of Malaga's second research plan, the results of which have been published in scientific journals.

All the research carried out in other centres and other countries provides possibilities for cures and improvements, as Postigo points out: "Hopefully solutions will be found in the near future, but our children need daily attention, a response to the problems we have in the present and this is not possible without Andalusian centres and clinical professionals with experience in the various pathologies associated with this syndrome who welcome us and work with all of us. For all these reasons, we want to give visibility to the disease in Andalucía and request support and funding to develop research in our public centres," says Postigo.