Further test results on Brendan revealed he had Stage 1 liver disease, but doctors could not determine what was causing it. About six 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 four 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 ultra-rare metabolic disease called lysosomal acid lipase deficiency (LAL-D).1 A week later, all four were definitively diagnosed with the disease.
By this time, Brendan was suffering from Stage 3 liver damage, and the other three 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.”
The four boys began treatment with an enzyme replacement therapy called sebelipase alfa (KANUMA® (sebelipase alfa))* in October of 2015 under an early-access program. KANUMA was then approved by the U.S. Food and Drug Administration on December 8, 2015 for the treatment of patients with a diagnosis of LAL-D. The boys all continue to receive KANUMA today.
*The results from use of KANUMA may vary.