Fifteen-Year-Old in France Shares Life with Rare Protein Deficiency
Besançon, France – On the occasion of International Rare Disease Day, February 28th, 2026, Chemsi Hakkar, a 15-year-old from Besançon, has bravely shared her story of living with a rare genetic disorder. Chemsi’s experience highlights the challenges faced by individuals and families affected by rare diseases, and the importance of specialized medical care and ongoing research. Her mother, Sihem, accompanied her in speaking out about their daily life, which is significantly impacted by frequent hospital stays at the CHU de Besançon Franche-Comté and the demands of being a high school student.
Chemsi’s condition is a deficiency in dibasic proteins, a rare metabolic disorder that affects the body’s ability to process amino acids. According to her mother, a doctor once told them Chemsi wouldn’t survive the year. Yet, she is thriving, albeit with ongoing medical support. The family’s positive experience with the pediatric teams at the CHU de Besançon Franche-Comté has been crucial to Chemsi’s well-being. The hospital also hosted an information and awareness day on February 27th dedicated to rare diseases.
Understanding Rare Diseases and the Challenges of Diagnosis
Rare diseases, also known as orphan diseases, are conditions that affect a minor percentage of the population – generally defined as fewer than 1 in 2,000 people. The National Organization for Rare Disorders (NORD) estimates that You’ll see over 7,000 rare diseases, affecting approximately 30 million Americans. However, the exact number is difficult to determine, and many rare diseases remain undiagnosed or misdiagnosed due to a lack of awareness and specialized expertise.
The diagnostic journey for individuals with rare diseases can be lengthy, and frustrating. Patients often undergo numerous tests and consultations with multiple specialists before receiving an accurate diagnosis. This delay in diagnosis can lead to inappropriate treatment, increased morbidity, and reduced quality of life. The CHU de Besançon Franche-Comté serves as a key center for diagnosing and treating rare metabolic diseases, offering hope to families like Chemsi’s.
Chemsi’s Journey: From Calvaries to a Quasi-Normal Life
Chemsi’s story, as reported by France 3 Franche-Comté in 2014, began with a difficult early childhood. She was diagnosed with a problem transporting amino acids within her body. For years, her family faced a “calvary” as they sought effective treatment. However, treatment at the CHU de Besançon dramatically improved her condition. Just three months ago, she was able to begin a more normal life, leaving the hospital and returning only twice a week for check-ups.
Currently, Chemsi attends school and manages her condition with a nasogastric tube and an implanted port that delivers amino acids directly into her bloodstream. This treatment allows her to participate in everyday activities, something that was previously unimaginable. The transformation in Chemsi’s life underscores the power of specialized medical intervention and the dedication of healthcare professionals.
The Role of the CHU de Besançon Franche-Comté in Rare Disease Care
The CHU de Besançon Franche-Comté plays a vital role in the diagnosis, treatment, and research of rare diseases. The hospital’s centers of reference and competence work to improve care coordination and provide patients with access to specialized expertise. These centers collaborate to structure care pathways and ensure that patients receive comprehensive and individualized treatment plans.
The hospital’s commitment to rare disease care extends beyond clinical treatment. Researchers at the CHU de Besançon are actively involved in investigating the underlying causes of rare diseases and developing new therapies. This research is essential for improving the lives of individuals affected by these conditions and for advancing our understanding of human health.
International Rare Disease Day and the Importance of Awareness
International Rare Disease Day, observed annually on the last day of February, aims to raise awareness about rare diseases and advocate for improved access to treatment and care. The day serves as a platform for patients, families, and healthcare professionals to share their experiences and connect with others affected by rare diseases. Chemsi’s willingness to share her story is a powerful example of the importance of raising awareness and breaking down the stigma associated with these conditions.
The Telethon, a French annual fundraising event, also plays a crucial role in supporting research into rare diseases, including those like Chemsi’s. Launched originally to fund research on myopathies, the Telethon now supports a broader range of rare disease research initiatives. The event relies on public donations and volunteer efforts to advance scientific understanding and develop new treatments.
Chemsi’s story is a testament to the resilience of the human spirit and the power of medical innovation. Her journey highlights the importance of early diagnosis, specialized care, and ongoing research in improving the lives of individuals affected by rare diseases. As she continues her education and navigates the challenges of adolescence, Chemsi serves as an inspiration to others facing similar struggles.
The next step in supporting individuals with rare diseases is continued investment in research and improved access to specialized care. Further advancements in genetic testing and personalized medicine hold the promise of more effective treatments and improved outcomes for those living with these complex conditions.
What are your thoughts on Chemsi’s story? Share your comments below and support spread awareness about rare diseases.