Rare diagnosis after mum pushed for tests when she noticed one thing about her baby

The family of a baby boy from Devon, who received a rare diagnosis, have undertaken an immense challenge to raise vital funds for the charity that supports their nephew.

Little Kobe was a "happy, healthy, and thriving little baby", but when his weight gain stalled, his mum took him to the GP, and ultimately a blood test revealed something was "seriously wrong".

DevonLive reports in October 2024, at just seven months old, Kobe was diagnosed with a rare condition known as Cystinosis, a disease triggered by a gene mutation that leads to crystal accumulation in organs and tissues.

Residing in Okehampton, Kobe and his family had their lives turned upside down as they grappled with this rare condition that affects 1 in 100,000 to 200,000 births globally. Until his diagnosis, Kobe was a happy