For most parents, the first few weeks of a child’s life are a blur of sleepless nights and new discoveries. For David Bermejo and his wife, those weeks in Valladolid, Spain, became the start of a lifelong medical mystery. Their son, Lucas, now eight years old, lives with a severe genetic condition that medicine cannot yet name, a reality that has transformed their family’s existence into a daily exercise in resilience and adaptation.
The struggle is not merely medical. It is a battle against the silence of an undiagnosed condition, the friction of a rigid bureaucracy, and the steep financial costs of total dependency. In response, a community movement under the banner “Todos somos Lucas” has emerged, turning a private family crisis into a public call for solidarity and visibility for those living with rare diseases.
As a physician, I have seen how a diagnosis functions as a key—it unlocks access to specific treatments, insurance coverage, and a roadmap for the future. Without that key, families like the Bermejos exist in a state of permanent medical limbo. Lucas’s case is a stark example of the “diagnostic odyssey,” a grueling period of testing and uncertainty that can last years, or in this case, nearly a decade.
The silence of a ‘de novo’ mutation
The first signs appeared when Lucas was just 15 days old. What began as unusual movements quickly escalated into a series of crises that led the family to the emergency room. Initial suspicions pointed toward epilepsy, but as the months passed, it became clear that the seizures were only one piece of a much larger puzzle.
The impact on Lucas’s development was profound. He struggled to meet the earliest milestones of infancy: he did not fix his gaze, lacked a social smile, and could not control his head. Despite years of lumbar punctures, genetic screenings, and consultations with specialists across multiple cities, a definitive name for his condition remains elusive.
Medical professionals believe Lucas is the result of a “de novo” mutation. In clinical terms, this refers to a genetic alteration that appears for the first time in a family member, not inherited from either parent. Because the specific gene involved has not been identified, there is no targeted therapy available. Treatment is currently symptomatic, focused on managing epilepsy and preventing physical deterioration rather than curing the underlying cause.
This lack of a name creates a psychological weight that David Bermejo describes as devastating. There were moments in Lucas’s early years when doctors gave him only 24 hours to live. While Lucas has survived every grim prognosis, the uncertainty remains. The family lives in a state of precariousness where the future is measured in days rather than years.
The invisible cost of total dependency
Beyond the clinical challenges, the Bermejo family faces the systemic failures of the support networks designed to help the disabled. Total dependency requires a specialized environment that the state often fails to fund in a timely manner. To ensure Lucas could be transported safely, the family had to sell their own car to purchase a vehicle equipped with a customized ramp—an expense they bore entirely on their own.
The financial requirements are constant and evolving. As Lucas grows, his needs become more complex, requiring specialized orthopedic materials, an adapted chair, and the upcoming necessity of a mechanical hoist and an articulated bed to prevent respiratory complications and facilitate movement.
However, the most exhausting hurdle is often the paperwork. David Bermejo describes a fragmented bureaucratic system where aid is frequently blocked by administrative delays. He notes that while the family meets every deadline and submits every document, the lack of coordination between different government agencies often leaves them without essential benefits for extended periods.
This systemic friction creates a “caregiver’s tax,” where the emotional energy required to fight for basic rights is stolen from the energy needed to care for the child. For the Bermejos, this burden extends to Lucas’s siblings, whose lives are naturally shaped and conditioned by the demands of their brother’s severe illness.
A community response in Valladolid
In the face of this isolation, an unexpected support system has materialized through David’s employer, the technology firm TOOOLS, located in the Boecillo Technology Park. Recognizing the unsustainable pressure on the family, the company has moved beyond professional flexibility to active advocacy.
The “Todos somos Lucas” movement is an effort to bridge the gap between public awareness and the actual reality of severe disability. Many people understand the concept of a “rare disease” in the abstract, but few comprehend the daily reality of total dependency—the constant monitoring of breath, the management of epileptic crises, and the total restructuring of a home to accommodate medical equipment.
The movement emphasizes that inclusion is not just a policy term, but a practical necessity. For David, the goal is to shift the public conversation from curiosity—asking “what is wrong with the child?”—to active support, asking “what do you need?”
To provide the necessary resources for Lucas’s evolving medical needs, TOOOLS is organizing a large-scale benefit dinner on June 26. The company is covering all event costs to ensure that 100% of the funds raised go directly to the family to improve Lucas’s quality of life.
Despite the hardship, the family finds meaning in tiny, hard-won victories. David recalls a moment years ago when Lucas said the word “mamá,” a milestone they have recorded. It serves as a reminder that even in the absence of a medical name or a cure, there is a capacity for connection and growth.
Disclaimer: This article is for informational purposes only and does not constitute medical advice. Please consult a healthcare professional for diagnosis and treatment of genetic or neurological conditions.
The next major milestone for the community and the Bermejo family will be the benefit event on June 26, which aims to secure the funding necessary for Lucas’s upcoming mobility and respiratory equipment.
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