LAL-D REAL STORIES

Meet Albie

Diagnosed with LAL-D as an infant

When Albie was born, his mom, Charlotte, said that he was, “absolutely fine. Everything was fine for about two weeks.”

Albie, diagnosed with LAL-D as an infant, with his mother

And then Albie started to have intestinal problems. His doctor thought he might be lactose intolerant or have reflux. However, he kept getting sicker, developing a large abdomen and groin, and wasn’t gaining significant weight. At two months of age he had only gained one pound since birth.

After numerous tests, physicians and hospitals, Charlotte still did not have any answers. Finally, a specialist narrowed the issue down to a metabolic storage disorder, but was not yet able to narrow down the diagnosis. According to Charlotte, when she asked what was going to happen to Albie, she was told, “Well, he’ll either live or he’ll die.”

These were words Charlotte would never forget.

Albie, diagnosed with LAL-D as an infant, wearing a motorcycle helmet with his mother Albie, diagnosed with LAL-D as an infant, riding a bike Albie, diagnosed with LAL-D as an infant, holding a puppy

After more tests, it was confirmed that Albie had a genetic and progressive ultra-rare metabolic disease called lysosomal acid lipase deficiency (LAL-D).1 At the time there were no treatments for LAL-D, but there was a clinical trial for an enzyme replacement therapy called sebelipase alfa (now known as KANUMA® (sebelipase alfa)). As Charlotte says, “It didn’t matter, the fact that it was a clinical trial, it was something, so I was quite happy.”

After several weeks of treatment, Albie gradually began to put on weight and improve.* He continues to receive the treatment once-weekly and is now four years old.

When Albie started pre-school, Charlotte remembers bursting into tears. When a teacher asked if she was sad because he was leaving her, she said, “I’m not crying because I’m sad that he’s leaving me, I’m crying because I can’t actually believe he’s here. I never thought I’d see the day.”

Charlotte says her hope for Albie in the future is “that he carries on being the way he is now, so he gets better. I just feel proud. He’s fought for himself, he’s been strong.”

*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