Sisters Battle Rare Disease Causing Dangerous Blood Sugar Drops
Two young sisters, four-year-old Sheina Esther and three-year-old Yiska Sarah, have been diagnosed with hyperinsulinism, a rare genetic disorder where the pancreas overproduces insulin, leading to dangerously low blood sugar levels. Their mother, Lavi Adri, recounts a year-long ordeal of misdiagnoses before Sheina Esther's condition was identified at Schneider Children's Medical Center. Initially, doctors attributed her extreme sleepiness and frequent fainting spells to viruses, sending the family home with sugar and fluids.
During one critical episode, Sheina Esther lost consciousness, prompting an emergency room visit where her dangerously low blood sugar was finally detected. A diagnostic fast at Schneider confirmed the issue, and genetic tests revealed a mutation in the ABCC8 gene, a common cause of congenital hyperinsulinism. This condition is described as the opposite of diabetes, where the body produces too much insulin, causing blood sugar to plummet.
Managing Sheina Esther's condition requires a complex regimen of ten daily medications, administered via a feeding tube directly into her stomach. She also requires continuous overnight feeding to maintain stable blood sugar. The family's life revolves around a strict schedule of meals, medications, and monitoring. The younger sister, Yiska Sarah, began exhibiting similar symptoms around age one, and the parents, now familiar with the signs, ensured she was promptly taken to Schneider, where she received the same diagnosis.
Despite their young age, both girls are beginning to understand their condition. Sheina Esther, who wears a continuous glucose monitor, can sense when her sugar levels are dropping and insists on treatment. She also shows concern for her younger sister. Yiska Sarah, seeing her older sister's feeding tube, accepts the prospect of a similar device as part of her reality. The family shares their experiences on social media, which has helped other parents identify the condition in their own children, highlighting that hyperinsulinism may be more common than previously thought.
Dr. Kineret Mazor-Aharonovich, a senior specialist at Sheba Medical Center, explains that congenital hyperinsulinism is typically genetic, disrupting the 'switch' that regulates insulin secretion in the pancreas. While symptoms can appear from birth, milder forms may manifest later. The primary danger is to the brain, which requires a constant sugar supply. Early detection and intervention are crucial to prevent severe complications, including brain damage and death. Treatment options include medication like diazoxide, and in severe cases, surgical interventions or specialized feeding methods.
