The Heartbreaking Story of a Boy Battling a Disease Found in Only 27 People Worldwide

16.12.2024 - 23:53

Imagine facing a condition so rare that only 27 cases exist globally. This is the reality for young Angus and his family, whose lives took a dramatic turn when he started having seizures at just six months old. For years, they lived in fear and uncertainty, unable to find a diagnosis. Finally, Angus was identified as having CRELD1, an exceptionally rare genetic disorder. Now, his family is on a mission to raise awareness and support for others facing similar struggles. Dive into their inspiring journey and discover how they’re turning hardship into hope.

For Angus’ parents, the realization that their three-year-old son was fighting an extremely rare genetic disorder marked the beginning of a frightening journey.

The condition, which causes Angus to experience frequent seizures as well as speech and movement difficulties, remains a mystery even to medical experts. Tragically, the disease can also lead to heart problems in children and, in some cases, can be fatal.

Angus’ father, Oli Powell, has taken a significant step to raise awareness about this rare disease and fund research.

Over the course of one week, he ran a marathon every single day, covering 42 kilometers daily. Through this grueling effort, Oli has raised over £30,000 so far. The donations are being directed to CRELD1 Warriors, an organization that supports affected families and advocates for better treatment options.

Angus’ mother, Sophie, recounted how their lives turned into a nightmare when their son experienced a severe seizure at just six months old.

“His eyes rolled back, and his body convulsed. I thought he was going to die,” Sophie shared, adding that the lack of a diagnosis at the time made the situation even harder.

For two years, Angus suffered recurrent seizures and prolonged crises.

It wasn’t until six months ago that doctors identified his condition as CRELD1, a rare disorder caused by the inheritance of a rare gene mutation from both parents.

Sophie described how Angus had been a perfectly healthy baby until his first seizure.

“That first seizure lasted only five minutes, but it felt like a lifetime,” she said. Initially, doctors suspected it might be a simple febrile seizure. However, in the following months, Angus was frequently rushed to the hospital, with severe colds triggering even longer and more intense seizures. “Doctors told us it could be temporary but couldn’t explain why it was happening,” Sophie said, noting that genetic testing at the time also yielded no answers.

CRELD1 is associated with a range of health issues, including heart problems, developmental and learning delays, and respiratory and immune system complications.

Last Christmas Eve, Angus was placed in an induced coma but thankfully recovered. “The doctors told us there’s only one medical paper on this condition, and they didn’t know how it would affect Angus in the future,” Sophie said, explaining that the diagnosis brought both relief and uncertainty.