Sisters team up to fight rare genetic disorder: Boston Children’s leads LAL-D clinical trial

(L-R) Maureen and Lauren Walsh                                 Sisters Lauren and Maureen Walsh have smiles that light up a room and personalities to match. Though they have very different interests—Maureen, 14, is an avid dancer and member of a high school dance team, and Lauren, 11, is a defensive player on a co-ed hockey team, the duo share one important mission: to conquer the genetic liver disorder lysosomal acid lipase deficiency (or LAL-deficiency). In June 2012, the Walsh sisters were diagnosed with late-onset LAL-deficiency—a metabolic disorder in which the body does not produce enough of an enzyme responsible for breaking down fatty materials in the body. The condition, which typically prompts a build up of fat in the liver, spleen and other parts of the body, is rare and often difficult to detect. For Lauren, who is more affected by the disorder, the signs and symptoms of LAL-deficiency emerged in October 2010 when she was 6 years old. Maureen (l) and Lauren (r) “She was very ill with a lot of belly aches and general fatigue,” recalls her father Greg. “She wasn’t eating much and [was] not herself.” Initially, Lauren’s local pediatrician believed the first-grader was battling a virus. But concern spiked as her symptoms persisted for several weeks. “She just wasn’t beating it,” her dad says. Further evaluations showed Lauren’s liver was slightly enlarged, her chol...
Source: Thrive, Children's Hospital Boston - Category: Pediatrics Authors: Tags: All posts Diseases & conditions Our patients’ stories Source Type: news