When little Oliver's inconsolable crying began at just six weeks old, doctors assured his worried parents it was simply colic. But as weeks turned to months with no improvement, first-time mum Chloe knew something was terribly wrong.
The Warning Signs Everyone Missed
"He would scream for hours, arching his back in pain," Chloe recalls. "We tried every colic remedy - different formulas, winding techniques, even osteopathy. Nothing helped."
At four months old, a health visitor finally noticed Oliver wasn't meeting developmental milestones. Referred to specialists, the family received the devastating news: Oliver had Krabbe disease, an extremely rare and fatal genetic disorder.
What Is Krabbe Disease?
- A degenerative condition affecting the nervous system
- Caused by mutations in the GALC gene
- Occurs in just 1-2 per 100,000 births
- Most patients don't survive beyond age 2
"Hearing there's no cure... it shattered our world," Oliver's father James told us. "We went from planning his first birthday to discussing palliative care."
The Fight for Awareness
The family now campaigns for earlier screening. "If we'd known during pregnancy, we could have explored treatment options," Chloe explains. "Newborn screening could save other families this heartbreak."
Despite the prognosis, Oliver's parents cherish every moment. "He's taught us more about love and strength than we ever imagined," James says. "We'll keep fighting for him and others like him."
