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 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.