Founded in 2017, the Spanish Coffin Siris Syndrome Association is an organization dedicated to supporting families affected by this rare genetic disorder. In an exclusive interview with Alejandra Paredes, president of the association and mother of a daughter with Coffin Siris Syndrome (CSS), we learned about the challenges faced by the families and about the initiative to create this association.
The results of Alejandra Paredes’ daughter’s Photo in Face2Gene indicate the correct diagnosis of Coffin Siris.
“The idea of setting up a patient support organization was suggested by a doctor during a consultation for our families,” explained Alejandra. “We were approximately 10 families that day, meeting in a quiet area, and made the decision to formalize a national association. Although we came from different parts of Spain, it was clear that we shared a common cause.” The main objectives of the Spanish Coffin Siris Syndrome Association include public recognition of CSS, inclusion of it in the list of rare diseases in Spain to access benefits, financial support for therapies for low-income families, ongoing research at the Hospital San Juan de Dios in Barcelona, and psychological support through its psychology department.
The diagnostic process for the disease is a significant challenge for families. “In our case, suspicion arose early, when my daughter was just a few months old,” shared the interviewee. “She couldn’t feed properly and had stiffness in her neck. We went through a period of uncertainty until we reached a definitive diagnosis.” Alejandra continued “The typical symptoms are diverse and can vary widely: From hypothermia to swallowing problems, generalized hypotonia, hypoglycaemia, and autism spectrum disorders (ASD), there is a wide range of symptoms that should alert both families and doctors”.
Adapting to the diagnosis and treatment can be overwhelming for families. “We went from thinking that we were the only ones in the world with CSS, to discovering that there are many others like her,” said the founding member. “The treatment varies according to the symptoms, from physical therapies to specific medications to address individual symptoms.”
The barriers to accessing quality care are constant for affected families. “My daughter, who is now 8 years old, has autism, which hinders her learning and cognitive development,” shared the founding member “However, she had surprising abilities, such as writing correctly without spelling mistakes at a young age.”
The Spanish CSS Association is a beacon of hope for affected families. Their determined work in raising awareness, providing financial support, and conducting research is changing lives and offering a path to a better future for those affected by CSS in Spain and beyond.
About the Spanish Coffin Siris Syndrome Association
The Spanish Coffin Siris Syndrome Association (AESCS) was founded in 2019 by families who, like yours, have loved ones with Coffin-Siris Syndrome. Their initiative creates a space for support and answers to common needs. They seek to provide emotional support, information, and resources, being a refuge where affected families find understanding. Here, experience is transformed into shared knowledge, and collective strength is key to addressing daily challenges.
Website: https://coffinsiris.es/
