LAL-D REAL STORIES

Meet Maureen & Lauren

Diagnosed with LAL-D at 8 and 12 years old

Lauren was in the first grade when she became ill with persistent abdominal symptoms. Her parents, Susan and Greg, took her to a number of specialists and discovered that her liver and spleen were enlarged and her liver enzymes were elevated. Lauren’s lab tests were repeated every few months and remained abnormal, but still, no one could pinpoint exactly what was wrong.

Maureen & Lauren, diagnosed with LAL-D at 8 and 12 years old, with their parents and brother

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 rare metabolic disease associated with multi-organ damage in infant, pediatric, and adult patients and premature death in infants.1,2 All 3 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.

Maureen & Lauren, diagnosed with LAL-D at 8 and 12 years old

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 medicine. Both girls have since experienced improvements in their liver enzyme levels and continue to manage their disease. 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.”

Reference:

  1. Bernstein DL, Hülkova H, Bialer MG, Desnick RJ. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol. 2013;58(6):1230-1243.
  2. Jones SA, Valayannopoulos V, Schneider E, et al. Rapid progression and mortality of lysosomal acid lipase deficiency presenting in infants. Genet Med. 2016 May;18(5):452-8.