Otto Sparkes’ family are raising funds to make memories with their little one
Otto’s doctors initially put his symptoms down to reflux(Image: Ella Burton / SWNS)
A baby who stopped smiling has been diagnosed with a rare disease that doctors initially thought was reflux. The rare inherited condition damages the nervous system and affects around one in 100,000 people worldwide, with baby Otto being the only existing case in the UK currently.
Otto Sparkes, now four months old, was diagnosed with Krabbe leukodystrophy in May 2026. Doctors initially put it down to regular reflux and colic until he underwent a lumbar puncture and extensive blood testing, which led to his diagnosis.
His parents, Ella Burton, 27, and Keiron Sparkes, 30, noticed their son was jolting from birth, but early genetic tests came back clear. His symptoms worsened at two months old, such as constant crying, struggling to feed, vomiting, and he eventually lost his smile.
They have since been told he has 13 months to live and he is currently the only known case in the UK. Ella, who works in the discharge sector of Yorkshire Ambulance, from Hull, said: “I knew there was a problem from birth. Everybody passed it off as colic and reflux, as he was really unsettled all the time.
“Doctors thought it was a cow’s milk allergy as he was vomiting a lot, so doctors had him try seven different types of milk. But then he started having these jolting, jerking episodes in his sleep – I was told it was a startled-baby reflex. Then, after three months, he stopped smiling.”
The 27-year-old mum said she was concerned as the condition progressed, with Otto “becoming more and more stiff”. She added: “His limbs locked out and weren’t moving, and he wasn’t playing with toys – that’s when I knew something really wasn’t right.”
Ella and Keiron, a finishing operative, had an unproblematic pregnancy but knew something wasn’t right immediately after birth. From the first days and weeks of his life, Otto had a curved posture, loss of smiling, excessive startle reflex and his thumbs were fixed into his palms.
Krabbe disease strips the protective coating off the nerves, causing the brain to lose its ability to communicate with the body. This leads to progressive muscle stiffness, loss of motor skills, and sensory problems.
Ella, who spoke to Sell Us Your Story, said: “[Otto] stopped smiling in March, and didn’t for a month straight. He smiled once in Leeds, and I thought he must be getting better, but he’s not done so since, for another month now.
“The thumbs fixated on the palm are specific to the disease, and I noticed that at four months. It was a big red flag for the doctors.”
When they were referred to Hull Royal Hospital and Leeds Neurology, they found out their son had the rare disease, and it had no cure. Ella said: “I thought it’d be something common and manageable, like cerebral palsy or MS, but it’s incurable, fatal.
“I just remember the room spinning. Everything went really muffled, I just felt ill. We were in bits, on the floor, crying.
“I’d have loved for them to pick it up earlier, but it is so rare, so we can appreciate they’re not going to know. He only got diagnosed through the blood database.
“We were expecting a normal life. To come to terms with the fact you’ll never hear him speak, achieve his goals is just dreadful.”
Ella said she reached out to Alex TLC – a Krabbe disease charity – and was told Otto is currently the only existing case in the country. The condition occurs when both parents carry a certain gene, meaning there is a 25% chance that if Ella and Keiron were to conceive a baby again, it could have Krabbe disease.
They are exploring the idea of IVF treatments as a way to find a “silver lining”. It can be spotted in pregnancy to give mothers the option to terminate or begin stem cell treatment in the baby’s first four weeks, which can prolong life.
Now, the family has launched a JustGiving page to fund trips to make the most of Otto’s life before he regresses too much as a result of the highly aggressive disease. Otto will soon lose his vision and hearing, while Ella said he has already begun struggling to feed.
The disease is said to have three stages, with Otto at stage two. It means a loss of mobility, motor control, loss of learned skills and continual absence of smiling are all imminent. The disease eventually becomes fatal when respiratory function deteriorates.
Consequently, Ella and Keiron want to take him to the beach and to Disneyland in America, rather than “just sitting and waiting for the inevitable to happen”. You can donate to the family’s fundraiser here. Their friends and family are also raising money with a charity rugby game and a 215-mile run.