Our participation in the Rare Liver Diseases Conference
On November 18, LAL-D Patient Organization had the honor of participating in the Rare Liver Diseases Day, a key event to continue advancing the visibility and understanding of conditions that still face significant challenges in diagnosis, treatment, and patient support.
Our participation took place in three moments particularly relevant for the LAL-D community:
A testimony that opened the event: Eva and the reality of living with LAL-D
Eva, affected by LAL-D and mother of two daughters also diagnosed with the disease, shared a deeply sincere testimony about what it means to live with a rare and still underdiagnosed condition. She raised issues that define the daily life of many families:
- Uncertainties about the future, especially during critical life stages such as pregnancy.
- Difficulties in accessing disability support, despite the disease being chronic and progressive.
- Educational and work-related obstacles caused by frequent hospital visits for intravenous treatments, medical check-ups, and periodic tests.
Her intervention gave voice to invisible realities and helped raise awareness among professionals about the urgency of improving recognition and comprehensive care for LAL-D.
Medical presentation on LAL-D and Wolman Disease
In the clinical session of the event, Dr. Jesús Quintero, attending physician at the Functional Unit of Hepatology and Pediatric Liver Transplantation at Vall d’Hebron University Hospital, delivered a presentation dedicated to Lysosomal Acid Lipase Deficiency (LAL-D) with a focus on Wolman Disease.
His talk allowed a deeper understanding of the complexity of these conditions: their early liver impact, the aggressiveness of Wolman Disease in infants, and the critical importance of early diagnosis to prevent irreversible damage and improve survival and quality of life.
It was a key moment to place LAL-D on the map of rare liver diseases and to highlight the essential role of ongoing professional training.
Advocacy and networking: Eduardo’s participation
In the final session, Eduardo López, president of LAL-D Patient Organization, had the honor of presenting and moderating the panel “The Need for Networking.”
From this platform, he emphasized the importance of strengthening coordination between XUECs, CSURs, ERNs, and patient organizations, and highlighted unmet needs that continue to affect the LAL-D community:
- Prolonged diagnostic delays
- Territorial inequalities in access to specialists
- Lack of tailored social support
- Gaps in research and epidemiological data
A collective reminder that only collaboration between healthcare systems, researchers, and patients will allow progress toward fairer and more comprehensive care.
Thank you for making it possible
From LAL-D Patient Organization, we want to express our special thanks to:
- Iolanda Arbiol, director of the Fundació Dr. Torrent-Farnell
- The event organizing team
- All participating healthcare professionals
- And all the people working every day to ensure rare diseases are not forgotten
Thank you for creating spaces where we can raise visibility for LAL-D, share real experiences, and advocate for the support that affected individuals need to live with dignity, safety, and hope.
We will continue working so that no person with LAL-D feels alone or invisible.
