Creutzfeldt-Jakob Disease Devastates Israeli Families with No Known Cure

Creutzfeldt-Jakob disease (CJD), a fatal neurodegenerative disorder, affects about 30 Israelis annually, with a particularly high hereditary incidence among Libyan and Tunisian Jewish communities. The disease, often confused with mad cow disease due to a shared prion protein mechanism, causes rapid neurological decline leading to death typically within a year of symptom onset. Symptoms include behavioral changes, memory loss, vision problems, impaired walking, instability, and sleep disturbances.

Families living with CJD describe the swift deterioration and emotional toll. For example, Maya Yeshayahu, a 42-year-old mother of three, experienced progressive symptoms over three months before diagnosis and death. Her sister, Racheli, emphasized the need for doctors to consider family history in neurological cases, especially among Libyan descent, to avoid delayed diagnosis. Another family, represented by Roni and Daniel, found hope in a clinical trial in the U.S. after Daniel’s diagnosis, highlighting the urgency of early detection.

The disease’s hereditary form is linked to a genetic mutation prevalent in parts of the Libyan and Tunisian Jewish populations, making Israel unique globally for its high genetic case rate. Despite the genetic risk, not all carriers develop symptoms, and many families hesitate to undergo genetic testing due to the current lack of effective treatments. However, preventive measures such as IVF with embryo selection are available and funded by Israeli health services to prevent transmission.

Dr. Nurit Omer of Ichilov Medical Center, Israel’s leading CJD research and treatment center, explains that while no cure exists, ongoing research aims to identify early biological markers and develop treatments to slow or prevent disease progression. Ichilov participates in international trials of experimental genetic drugs targeting prion protein levels in the brain. The hope is to eventually treat carriers before symptoms appear, offering families a chance to avoid the devastating impact of CJD.

Activists like Alis Enan, who lost her father and brother to CJD, have established foundations to support affected families and promote research. The disease remains a profound familial trauma, with rapid progression and no survivors to date, underscoring the critical need for medical awareness, early diagnosis, and research advancements in Israel and worldwide.