Eventually, Lauren underwent a liver biopsy, which showed severe scarring of the liver. Doctors began to consider the possibility of a genetic disorder, and eventually zeroed in on lysosomal acid lipase deficiency (LAL-D), a genetic and progressive ultra-rare metabolic disease associated with multi-organ damage in infant, pediatric and adult patients and premature death in infants.1 All three Walsh siblings were tested for LAL-D, and it was revealed that not only Lauren, but also older sister Maureen had the disorder. Younger brother Gregory was unaffected.
The diagnosis was daunting, but the family quickly learned that they had the chance to enroll their daughters in a clinical trial for an investigational enzyme replacement therapy called KANUMA® (sebelipase alfa). Both girls have since experienced improvements in their liver enzyme levels and continue to take KANUMA today.* They are active kids who love hockey and dance and don’t consider themselves any different from their peers.
“My hope for their future is the same as any parent of any child,” says Greg. “I know that they can deal with this or anything else and move on and live their lives.”
*The results from use of KANUMA may vary.