LAL-D REAL STORIES

Meet the Trendys

Diagnosed at 17, 14, 11, and 9 with LAL-D

When two-and-a-half-year-old Brendan was found to have elevated liver enzymes during routine preoperative bloodwork, his parents, Rebecca and Scott, never imagined it was the first sign that all four of their sons were suffering from an ultra-rare devastating disease.

The Trendys, diagnosed at 17, 14, 11, and 9 with LAL-D, with their parents

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.

The Trendys, diagnosed at 17, 14, 11, and 9 with LAL-D The Trendys, diagnosed at 17, 14, 11, and 9 with LAL-D, running

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.

KANUMA® (sebelipase alfa) INDICATION AND IMPORTANT SAFETY INFORMATION
INDICATION:

KANUMA (sebelipase alfa) is indicated for the treatment of patients with a diagnosis of lysosomal acid lipase deficiency (LAL-D).

IMPORTANT SAFETY INFORMATION:

Life-threatening and severe allergic reactions may occur in people who receive KANUMA. These reactions may occur in people who are starting treatment with KANUMA or in people who have previously received KANUMA without having an allergic reaction. Seek immediate medical care right away if you have any of the following signs or symptoms:

  • Chest pain or discomfort
  • Wheezing or trouble breathing
  • Rash or hives
  • Red eyes
  • Swelling of eyelids
  • Rapid heartbeat
  • Rapid breathing
  • Runny nose

Tell your doctor if you have had a severe allergic reaction to eggs or egg products, as people with a known history of egg allergies were excluded from clinical trials.

The most common side effects in patients treated with KANUMA are:

  • In infants with rapidly progressive disease presenting within the first 6 months of life: diarrhea, vomiting, fever, stuffy or runny nose, low hemoglobin (red blood cells), cough, swelling of the nose and throat, and hives.
  • In pediatric and adult patients: headache, fever, sore throat, swelling of the nose and throat, weakness, constipation, and nausea.

Tell your doctor if you are pregnant or plan to become pregnant, or are breastfeeding or plan to breastfeed.

These are not all of the possible side effects of KANUMA. Call your healthcare provider for medical advice about side effects. To report suspected side effects contact Alexion at 1-844-259-6783 or the FDA at 1-800-FDA-1088.

For additional Important Safety Information, please see the full Prescribing Information for KANUMA.

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.

US/ALL-A/0042