To mark Rare Disease Day 2025, HAE Junior is proud to announce a new project, a multilingual AI-backed research into the unmet needs of children and adolescents living with hereditary angioedema (HAE) and their families across Europe. This project is made possible thanks to the #RAREis Global Advocate Grant, awarded to HAE Junior patient organization as part of Amgen’s #RAREis program at the end of 2024.
The research, which is already underway, harnesses advanced AI analysis to identify key challenges faced by young HAE patients and their caregivers. The goal is to provide a data-driven foundation for improving patient advocacy, awareness efforts, and support services. It is our intention to present our research findings at future national and/ or international conferences with the goal to help interested European stakeholders to adapt their patient educational activities and support programs to better serve the pediatric HAE community.
Today, we are excited to share some initial insights from our research:
Chronic sleep deprivation, constant emergency monitoring, and lack of external support lead to burnout, job loss, and even serious health conditions in caregivers.
What people don’t realize: Caregivers of HAE patients face a lifelong battle, not just an episodic one. Unlike many chronic diseases with predictable patterns, HAE attacks can happen at any time, making life feel like a perpetual emergency with no relief. It has a strong societal impact, too.
HAE symptoms (swelling, pain) are still often dismissed as psychological, exaggerated, or non-urgent by the ER medical staff..Caregivers of HAE patients experience medical gaslighting, where doctors are reluctant to administer the injectable HAE acute medication brought along to the ER, assume the caregiver is overreacting or fabricating symptoms.
What people don’t realize: This is not just about education—it’s about bias and lack of urgency in treating rare diseases. The fact that caregivers must “prove” the urgency of the condition over and over is a sign of deeper systemic medical neglect.
People assume that missing school means missing education, but HAE children are also missing developmental milestones in social bonding, independence, and self-identity. Many children have to give up hobbies and physical activities they love because exertion can trigger HAE attacks, further limiting their opportunities for self-expression.
What people don’t realize: the long-term psychological impact of childhood HAE isolation is severe—some kids grow into adults who are afraid to live alone, travel, or take risks because they were conditioned to constantly fear an attack.
These early findings highlight critical gaps in the support young HAE patients and their families need, including access to effective treatment, proper emergency care, social and psychological support, and other essential resources. The final research outcomes are expected in the spring 2025, with a variety of communication activities to follow throughout the rest of the year.
We are proud to collaborate on this project with Semantic Hub, an innovative healthtech scaleup headquartered in Lausanne, Switzerland. Leveraging advanced AI and semantic analysis, Semantic Hub transforms unstructured patient narratives into structured insights, providing a deep understanding of patient experiences, unmet needs, and quality of life across diverse conditions and regions. By leveraging multilingual AI-powered analysis, we aim to amplify the voices of HAE families across Europe and drive meaningful change in the rare disease community.
Stay tuned for more information and tHAEnk you for helping raise HAE awareness!
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