LAL-D REAL STORIES

Meet Tristan

Diagnosed with LAL-D at 5 years old

Tristan was almost five years old when his parents, Holly and Steve, took him to the pediatrician because of his enlarged abdomen and persistent issues with constipation. Tristan’s doctor felt his abdomen and became concerned. X-rays revealed that he had an enlarged liver, but his doctor was unable to diagnose him.

Tristan, diagnosed with LAL-D at 5 years old

Next, Tristan’s parents took him to a gastrointestinal doctor who was also unable to diagnose him. Several months later, Tristan underwent a liver biopsy which revealed that he had stage-two scarring on his liver. This allowed his doctors to narrow down the possible causes for Tristan’s liver damage but they still could not provide the family with a specific diagnosis.

Tristan, diagnosed with LAL-D at 5 years old, with his father

Eventually, a genetic doctor was able to diagnose Tristan with LAL-D. His parents described feeling a whirlwind of emotions and fear after learning their son had such a rare and serious disease.1 Learning that there was a clinical trial for LAL-D helped them cope with the situation. Tristan was enrolled in a trial for KANUMA® (sebelipase alfa),* which he still receives today.

Holly says that today life with Tristan is starting to feel more routine. “He’s a typical nine-year-old kid who just wants to run and play; and he really doesn’t let this disease hold him back.”

*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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