Parents Ella Burton (27) and Keiron Sparkes (30) noticed that their son Otto had strange twitches since birth. Although his genetic tests were fine, the boy’s health was rapidly deteriorating. , doctors finally diagnosed him with an extremely rare but serious disease that no one else in the UK suffers from.
- The boy Otto suffers from an extremely rare fatal disease called Krabbe leukodystrophy.
- This is the only known case of the disease in the UK.
- The disease causes irreversible damage to the nervous system.
- The parents have created a fundraiser so that they can create shared experiences with their son before his condition worsens.
The couple from the English city of Hull had no problems during the pregnancy. However, Ella knew immediately after the birth that something was wrong with her son. Already in the first days of life, Otto had an unnatural posture, he did not smile and his thumbs were clenched in his hands. His condition gradually worsened, with symptoms such as constant crying, feeding problems and vomiting.
Doctors initially mistook the warning signs for normal reflux and colic because his genetic tests came back fine. But when Otto underwent a lumbar puncture and extensive blood tests, they revealed a much more terrifying cause of his condition. It turned out that he was suffering from Krabbe Leukodystrophy – a fatal hereditary disease that attacks and damages the nervous system of a newborn.
The disease destroys the protective covering of 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 disturbances. According to experts, the disease has three stages, and little Otto is currently in the second.
Doctors have informed Ella and Keiron that Otto has a maximum of 13 months to live and is currently the only known case of the disease in the UK. “Otto means the world to us. I just remember my head spinning. We were down, we were crying. I wish they would have found it sooner, but it’s extremely rare, so we understand. Coming to terms with the fact that we will never hear him speak is horrible” explained the devastated mother.
Because the disease is caused by a mutation in a certain gene that must be passed on by both parents, there is a one in four chance that Ella and Keiron’s next child will also be born with Krabbe leukodystrophy. The couple is therefore currently considering assisted reproduction as a possible solution.
In addition, they created to raise funds for trips with Otto. Parents want to experience beautiful moments with their son before the aggressive disease takes its toll. “Otto will soon lose his sight and hearing and now has problems feeding himself. We want to take him to the beach and Disneyland in the US instead of just sitting and waiting for his condition to get worse,” Ella concluded.
