Patient 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.”

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. After more tests, it was confirmed that Albie had a severe, genetic ultra-rare disease called lysosomal acid lipase deficiency, or LAL-D. 

Albie is now four years old and when he 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.”