Further test results on Brendan revealed he had stage 1 liver disease, but doctors could not determine what was causing it. About 6 months later, Brendan’s oldest brother Dakota became ill and test results revealed that he, too, had elevated liver enzymes. Surprised to see a common symptom in both children, Rebecca and Scott immediately reached out to Brendan’s doctor, who recommended they have their other sons tested. To the family’s shock, all 4 boys were found to have elevated liver enzymes.
Doctors began hunting for a genetic disease that could potentially be affecting the whole family, but tests did not reveal any conclusive results. Several years went by, and Dakota again became ill. This time, the boys’ doctors decided to test for something new—a genetic and progressive rare metabolic disease called lysosomal acid lipase deficiency (LAL-D).1 LAL-D is associated with multi-organ damage in infant, pediatric and adult patients and premature death in infants.2 A week later, all 4 were definitively diagnosed with the disease.
By this time, Brendan was suffering from stage 3 liver damage, and the other 3 boys, Dakota, Charles, and Alec, had stage 2 damage. Rebecca and Scott were scared to learn about the severe outcomes that were associated with LAL-D, but Rebecca recalls crying with relief to finally have an answer to the mystery they’d been fighting for nearly a decade.
“It wasn’t until we got the answer that I really felt that relief,” she said. “Now we knew what we were up against, we knew we could fight.”