A Three-Year-Old Weighs 100 Lbs. Due to a Rare Genetic Condition
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A heart-wrenching story emerges from North Attleborough, Mass., where Benjamin Freitag, affectionately known as Ben, faced an extraordinary challenge from a young age. The Freitag family had to navigate a delicate balance of managing Ben’s insatiable hunger and excessive weight gain as he battled a rare genetic condition that altered his life dramatically.
Ben’s mother, Karen Freitag, shared the emotional turmoil they endured as Ben, at just three years old, tipped the scales at nearly 100 lbs. His constant hunger and weight gain were perplexing, considering his normal birth weight of 8 lbs. Karen vividly recounted instances where Ben’s hunger drove him to tears, even after consuming full meals, painting a picture of the family’s struggles to cope with the relentless appetite.
By the tender age of two, Ben’s weight had ballooned to 65 lbs., necessitating a transition to adult-sized diapers and impeding his ability to crawl. The Freitag family was consumed by worry, questioning if Ben would ever walk at the rate he was gaining weight. Despite efforts to regulate his food intake, Ben continued to gain almost a pound per week, eventually culminating in his weight reaching almost 100 lbs. by the age of three.
The journey to uncover the root cause of Ben’s condition was fraught with uncertainty and frustration. Following various referrals and extensive testing, including genetic panels and examinations at prestigious medical facilities, Ben was diagnosed with a leptin deficiency in late September 2020. This rare condition disrupts the body’s response to leptin, the hormone that regulates hunger, leading to perpetual hunger pangs and severe obesity.
Dr. Mary Pat Gallagher, an expert in pediatric endocrinology and diabetes, emphasized the rarity of Ben’s condition, with only an estimated 500 to 2,000 cases in the US. The diagnosis brought a sense of relief to the Freitag family, confirming that Ben’s struggles were not imagined but rooted in a genuine medical anomaly affecting his brain’s hunger signals.
Treatment options initially appeared bleak, with the rarity of Ben’s condition posing challenges to finding appropriate interventions. However, a glimmer of hope emerged when the family was connected with specialists at Columbia University conducting a clinical trial for a drug called IMCIVREE. This medication aimed to address the dysfunction in hunger signaling pathways caused by Ben’s leptin deficiency.
Ben’s enrolment in the clinical trial marked a turning point in his life. The IMCIVREE injections swiftly transformed his daily routine, alleviating the constant food cravings and allowing him to engage in typical childhood activities with newfound freedom. Karen joyfully recounted Ben’s progress, noting his participation in sports and recreational activities previously hindered by his condition.
As Ben turned six and prepared for first grade, the transformation in his quality of life was evident. The daily injections of IMCIVREE granted him the ability to enjoy a childhood unencumbered by relentless hunger and weight struggles. Karen expressed gratitude and relief that Ben could now relish simple joys like playing with friends, participating in sports, and attending social events without food dictating every aspect of his existence.
The Freitag family’s arduous journey, marked by uncertainty and emotional upheaval, culminated in a tale of resilience and hope. Ben’s story serves as a poignant reminder of the complexities of genetic conditions and the transformative impact of medical advancements in restoring normalcy to individuals facing extraordinary health challenges.