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 ultra-rare metabolic disease associated with multi-organ damage in infant, pediatric and adult patients and premature death in infants.1 All three 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 enzyme replacement therapy called KANUMA® (sebelipase alfa). Both girls have since experienced improvements in their liver enzyme levels and continue to take KANUMA today.* 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.”

*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.

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