Rare Genetic Disorder Behind Sisters’ Unexplained Weight Gain Revealed

A Tennessee mother has shared the story of how her two daughters’ dramatic and unexplained weight gain led to a diagnosis of Bardet-Biedl syndrome (BBS), a rare genetic disorder affecting multiple organ systems.

Ciara Keown noticed her eldest daughter, Harper, began experiencing meltdowns over clothing sizes as she entered pre-K, and quickly gained 30 pounds despite being previously lean. Initial concerns led the family to an obesity clinic in Chattanooga, Tennessee, but lifestyle changes proved ineffective as Harper’s weight climbed to over 100 pounds by age seven, resulting in bullying and the need to withdraw her from school. Genetic testing last year revealed Harper, and later her younger sister Luna, had BBS, a condition impacting fewer than 5,000 Americans. This diagnosis highlights the challenges in identifying rare diseases and the importance of genetic screening.

BBS is caused by mutations affecting cilia, structures crucial for sensory information relay, and disrupts the brain’s hunger regulation. “The doctor was just mind-blown. She was like, ‘I’ve never heard of this before,’” Keown recalled. Both girls are now receiving treatment with medications including topiramate, Vyvanse, and setmelanotide (Imcivree), which have already resulted in Harper losing 30 pounds and Luna losing 10. The Bardet-Biedl Syndrome Foundation provides resources and support for families affected by this condition.

While the medication has helped manage their appetite and weight, BBS continues to affect both girls’ health; Luna is in the early stages of chronic kidney disease, and Harper’s liver has been impacted. They require ongoing care from a team of specialists and have accommodations at school to support their needs. Keown stated, “She’s braver now, like she’ll stand up for herself now, whereas in kindergarten, she wouldn’t stand up for herself. She’s not had any problems. She absolutely loves [school].” The family is now focused on raising awareness and connecting with other families facing similar challenges, hoping for potential remission and improved long-term management of the disease.

Medical professionals will continue to monitor the girls’ progress and adjust their treatment plan as needed, with the Keown family hopeful for a future where Harper and Luna can manage their condition and live full, healthy lives.