Otto Sparkes has been given just over a year to live
A four-month-old baby boy has been given 13 months to live after being diagnosed with a rare and incurable condition.
Otto Sparkes, now four months old, has been diagnosed with Krabbe leukodystrophy – a rare inherited condition that damages the nervous system and affects around one in 100,000 people worldwide.
Parents Ella Burton, 27, and Keiron Sparkes, 30, noticed their son was jolting from birth, but early genetic tests came back clear. At two months old, his symptoms worsened and he was constantly crying, struggling to feed and vomiting, before eventually the infant stopped smiling.
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Doctors initially put his symptoms down to regular reflux and colic until he underwent a lumbar puncture and extensive blood testing which led to his diagnosis. The heartbroken parents have now been told he has over a year to live.
Otto is currently the only known case of Krabbe leukodystrophy in the UK. The fatal disease strips the protective coating off the nerves, causing the brain to lose its ability to communicate with the body, leading to progressive muscle stiffness, loss of motor skills, and sensory problems.
Ella, 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.
“He was crying 90 per cent of the day, even would during his sleep. It’s all he’s done. Doctors thought it was a cow’s milk allergy as he was vomiting a lot. Doctors had him try seven different types of milk.
“But then he started to have these jolting, jerking episodes in his sleep – I was told it was a startled baby reflex. Then after three months he stopped smiling.
“I said I was concerned but they said it was normal startle reflex, then he started becoming more and more stiff, with 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, who works in the discharge sector of Yorkshire Ambulance, and Keiron, a finishing operative, knew something wasn’t right immediately after birth despite the pregnancy being unproblematic.
Otto was tested for Down syndrome after being delivered by c-section but genetic testing came back clear. From the first days and weeks of his life, Otto also had a curved posture and his thumbs were fixed into his palms.
Ella, said: “He 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 into the palm is 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, Ella and Kieron were given the devastating news that their son’s rare disease had no cure.
“It’s heart-breaking,” Ella said. “Not the words you ever want to hear that the doctors cannot do anything, no treatment, just awful. The doctor came in on her day off because she didn’t want us to wait any longer.
“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. We’re a bit numb now, have good and bad days.”
Ella added: “I’d have loved for them to pick it up earlier but it’s so rare, so we can appreciate they’re not going to know. He only got diagnosed through the blood database. It’s shocking.
“Otto means the absolute world to us, he’s 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 we’d always wanted.
“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 per cent chance that if Ella and Keiron were to conceive again a baby could have Krabbe disease. They are exploring the idea of IVF treatments as a means of finding 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, meaning loss of mobility, motor control, loss of learnt skills and continual absence of smiling are all imminent. The disease eventually becomes fatal when respiratory function deteriorates.
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”.
Their friends and family are also raising money with charity rugby game and a 215-mile run. You can donate the family’s fundraiser here.
According to Krabbe UK, some of the symptoms that may occur include:
- Feeding difficulties
- Irritability
- Stiffness of limbs
- Clenched fists
- Fever & seizures
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