Otto Sparkes, now four months old, was diagnosed with Krabbe leukodystrophy in May 2026 – a rare inherited condition that damages the nervous system and affects around one in 100,000 people worldwide.
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 lost his smile.
But doctors put it down to regular reflux and colic until he underwent a lumbar puncture and extensive blood testing which led to his diagnosis.
They have been told he has 13 months to live and he is currently the only known case in the UK.
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.
Mum, Ella said: âItâs heart-breaking. Not the words you ever want to hear that the doctors cannot do anything, no treatment, just awful.
âThe doctor came in on her day off because she didnât want us to wait any longer.
“I thought itâd be something common and manageable, like cerebral palsy or MS, but itâs incurable, fatal.
âI just remember the room spinning. Everything went really muffled, I just felt ill. We were in bits, on the floor, crying. Weâre a bit numb now, have good and bad days.
“I’d have loved for them to pick it up earlier but itâs so rare, so we can appreciate theyâre not going to know.
“He only got diagnosed through the blood database. Itâs shocking.
âOtto means the absolute world to us, heâs our rainbow baby which is even worse.
“He almost fixed my life. I got so much better in terms of mental health, we were so happy and it was everything weâd always wanted.
âWe were expecting a normal life. To come to terms with the fact you’ll never hear him speak, achieve his goals is just dreadful.â
