A Nottinghamshire couple have described their “devastation” after their son’s medical issues – which they suspected was autism – turned out to be a fatal condition.
Jodi and Mark Lee, of Rainworth, had always thought son Carter suffered from either autism or dyspraxia, due to his poor motor skills and slow development.
But the four-year-old has now been diagnosed with Duchenne muscular dystrophy - a rare, incurable condition which degrades muscle function.
The condition means Carter will need to use a wheelchair by the age of 12 as his muscles lose more and more function.
Mum Jodi, aged 30, said: “Our whole world came crashing down. It is the worst possible news any parent could face."
"Carter has learning difficulties and he’s been slow with his development, so when he started displaying poor motor skills, we shrugged it off.
“All children develop at different rates and we thought he’d catch up. To us he’s perfect.”
Duchenne’s is a rare, incurable condition which gradually degrades muscle function, The condition will mean he is confined to a wheelchair by the age of 12 as his muscles lose more and more function, and will eventually kill him by his mid 20s.
“The last muscle to go will be his heart,” said Jodie.
“Our whole world came crashing down when we were told. It is the worst possible news any parent could face.
“He’s got such a big personality, he’s the loudest child in class and he loves the Ninja Turtles.
“He’s just a normal boy.”
Now the family want to raise awareness of the condition as they were unaware of the warning signs.
Jodi added: ““I wouldn’t have known until the doctor told me. So it’s about making sure others do.
“If you’re child is developing slowly, don’t make assumptions.
“You can’t stop it, but you can slow down the symptoms,” Jodie added, “and prepare yourself to make the most of the time you have.”
Tragic fate for boy with ‘big character’
Carter is a ‘happy’, ‘funny’ character and goes to school at Lakeview Primary.
“He’s got learning difficulties so he doesn’t really understand what’s going on", said Jodi. "He knows his legs get tired easily but nothing more than that.
“I can’t bear to think about the day I have to tell him he’s not going to go on and live like everyone else, and I dread him finding things out about the condition.
And as fundraising continues to help him, he has become well known in the local area.
Jodi added: “He’s become a little bit of a celebrity. People we don’t know say ‘good morning carter’ to him on the way to school. He likes the attention.”
The charity, Harrison’s Fund is working to find a cure for the condition and experiment with treatments to delay symptoms.
The condition affects the body’s ability to produce dystrophin – a protein you need to build up your muscles.
A spokesman said: “Most kids with it die in their late teens or early twenties. It leads to respiratory failure, heart failure, and other debilitating orthopaedic complications.
“Although we know a lot about how Duchenne is caused, current treatments are pretty limited. Steroids and daily stretching are what most doctors recommend, but they have their drawbacks and don’t prevent debilitating muscle contractures.”
Bucket list so Carter can make some memories
Carter will get progressively weaker as he gets older, and by the age of 12 he will likely need a wheelchair.
Jodi said: “My son’s never going to get married or have children, so we just need to make sure he lived his life to the full and does everything he wants to do while we have the time.”
The family have formed a bucket list they hope to complete while he’s strong enough, including trips to Legoland and Disneyland Paris. Money will also go towards home adaptations to improve his life.
Jodie’s sister Janey, who is organising the fundraising, said: “He is such a fun, loveable, happy go lucky, cheeky character that deserves the best experiences while he is able to make the most of them. His future has been taken away from him.
“We are looking at holding a fun day in March at Rainworth Welfare to raise further funds and will be liaising with local businesses to see whether they can donate.”
Visit crowdfunder.co.uk/carters-bucket-list for more details or to make a donation.