A four-month-old baby from Hull who stopped smiling has been diagnosed with a rare and fatal genetic condition. Otto Sparkes has Krabbe leukodystrophy, a disease that attacks the nervous system and affects approximately one in 100,000 people globally. He is currently the only known case in the UK.
His mother, Ella Burton, 27, noticed her son was jolting from birth, but early genetic tests came back clear. Doctors initially attributed his symptoms to reflux and colic. At two months old, his condition deteriorated, with persistent crying, difficulty feeding, vomiting, and eventually loss of his smile. A lumbar puncture and extensive blood testing led to the diagnosis in May 2026.
Krabbe disease strips the protective coating from nerves, causing the brain to lose communication with the body. Symptoms include progressive muscle stiffness, loss of motor skills, and sensory problems. Otto's parents have been told he has approximately 13 months to live.
Ms Burton said: 'I knew there was a problem from birth. Everybody passed it off as colic and reflux. Then, after three months, he stopped smiling.' She added that his thumbs fixated on his palms, a specific red flag for the disease. The couple, who also have a daughter, are now considering IVF treatment, as there is a one in four chance any future child could inherit the condition.
The family has reached out to the charity Alex TLC for support. Krabbe disease can be detected during pregnancy, allowing for early stem cell treatment that can extend life expectancy.
