Lucas’ story began with a heart complication diagnosed just three days after his birth. This unexpected news was just the prelude to an arduous and tortuous journey for his family. What seemed like a normal life soon turned into a relentless search for medical answers. Despite successful surgery to correct an abnormality in his aorta, Lucas continued to show unusually slow development.
However, it was not until April 2022, after almost ten years of fruitless consultations and medical examinations, that he was diagnosed with STXBP1 syndrome, a genetic disorder that affects neurological development. STXBP1 syndrome, which Lucas suffers from, interferes with the production of syntaxin, a protein essential for the proper functioning of neurotransmitters in the brain. Discovered in 1993, syntaxin is essential for communication between neurons, and its malfunction is associated with serious motor and cognitive development problems, as well as speech and sleep disorders.
From birth, Lucas showed signs of abnormal development: he was unable to crawl, sit up or talk. Despite these clear signs, doctors repeatedly downplayed the concerns of Maria Paramio, Lucas’s mother, attributing the symptoms to normal development. Years of wandering through doctors’ offices and hospitals followed, facing ambiguous and confusing diagnoses, until A genetic analysis at the Niño Jesús Hospital in Madrid finally identified the STXBP1 syndrome.
Maria remembers with anguish the first years of Lucas’s life: “He was a different child, we knew that, but no one seemed to take our concerns seriously. When I told the doctors that something was wrong, they looked at me as if I were an overprotective mother. They even told me that Lucas was mentally retarded without offering any concrete explanation. It was devastating.
Lack of evidence
Currently, 1,085 cases of STXBP1 syndrome have been recorded worldwide, of which 64 are in Spain. However, these figures do not reflect the true magnitude of the problem. The estimated prevalence of this disease is 1 in every 30,000 inhabitants, which means that more than 1,600 people could be affected in Spain alone, and approximately 240,000 worldwide. Unfortunately, most of these cases go undiagnosed due to a lack of accessible genetic testing and limited awareness of the disease.
Lucas’ situation perfectly illustrates the challenges families in Spain face when trying to obtain a diagnosis for “new, but not rare” diseases, says Maria. Although the health system managed to save Lucas’ life by treating his heart condition, the lack of resources and knowledge in other specialties left the family in a situation of prolonged uncertainty and distress. “The system has failed us in fundamental ways”says Maria, highlighting the crucial importance of early diagnosis and the urgent need to invest in research.
Maria also highlights the isolation felt by many families: “They tell us that we are few, that our needs are not a priority, but that does not make it any less painful.“It is not fair that the value of a life depends on the number of people affected by a disease.”
Faced with institutional apathy, María Paramio decided to act. Together with his family he founded the The Lukiss Foundation, whose main objective is to finance comprehensive genetic studies for children with STXBP1 syndrome, seeking to significantly improve their quality of life. The Foundation also seeks to raise awareness in society and authorities about the need to invest in research for rare diseases.
«Research is always necessary, whatever the disease, and it is also a right of every citizen to look after their health. Citizens do not choose their illnesses,» he points out. However, The financial challenges are tremendous: Carrying out a complete genetic study for 15 children with this condition requires more than half a million euros, a figure that families must raise through donations and charity events.
The Lukis Foundation also collaborates with other international organizations that research STXBP1 syndrome. “In the United States and the Netherlands, they are much more advanced,” María explains to LA RAZÓN. “There, the research is about to enter the clinical trial phases, something that here in Spain seems like a distant goal.” The collaboration with the American STXBP1 Foundation, which held its congress in Philadelphia this summer, has been especially significant, since it leads the research. 16 lines of research, including studies on gene therapies and RNA“We have established a strong bond with them, and we are doing everything possible to ensure that Spanish families can benefit from these advances,” says María.
((H2:«Illuminate the weird»))
Despite these efforts, resources are limited and bureaucracy is relentless. “Getting the Lukis Foundation up and running has been a huge challenge,” says Maria. “We have to work hard to get the job done.”We are faced with a system that is not designed to help small organizations. “It’s like every step we take is full of obstacles, but we can’t give up. Every step forward, however small, represents hope for our children.”
In Spain, the battle for visibility and recognition of diseases such as STXBP1 syndrome is an uphill battle. “What is not seen is not known. A very graphic example of what our families experience, during their struggle to find a diagnosis, is when doctors and professionals tell us things like: “Your son doesn’t look like he has the syndrome, he’s very handsome,” says María, stressing the need to break the stigma and increase public awareness about these diseases.
The Lukis Foundation has become a vital channel for raising awareness of the situation of these children. and to push for changes in health policies.
Lack of early diagnosis is one of the biggest obstacles to effective treatment of STXBP1 syndrome. Many children are initially diagnosed with disorders such as autism due to the similarity of symptoms, which delays appropriate treatment. Maria insists on the need for comprehensive genetic testing to ensure an accurate diagnosis, which would not only improve the quality of life of patients, but could also open the door to future curative treatments.
They have chosen the month of September to dedicate to this disease and under the motto “Light up the strange” to give it greater visibility: “We are not asking for compassion, we are asking for equality. We are not asking for charity, we are asking for justice. And we will continue to raise our voices until our children have the opportunity to live the life they deserve,” says Lucas’ mother.