A DEVASTATING diagnosis has seen a mum and dad try to cram ‘a lifetime of experiences’ in for their young son, who has an incurable disease.
Tj Colwell, seven, was diagnosed with Niemann-Pick disease in April, a genetic disease so rare there are less than 100 recorded cases in the UK.
“We’ve been told things no parent should have to hear,” said his dad Terry, 34.
The disease is life-shortening and there is no cure.
“We’ve just got to try to cram in a lifetime of experiences in such a short time,” said Tj’s mum Hayley, 43.
“I feel like I’m living a nightmare that’s not real. I feel I’m going to wake up and everyone will say it’s just a dream, it’s not real.”
They hope to take Tj to Disneyland and said they were being ‘ambitious’ and aiming for Florida.
For years, Tj presented a number of symptoms of the disease, but because it is so rare, it was not recognised until this year.
“We found out in April after he started having seizures out of the blue,” said Terry, who grew up in Chichester.
“They did a CT scan and found lesions on the brain.”
Tj’s symptoms include an inability to look up and down, seizures and falling over.
“He’s always been a little bit clumsy and uncoordinated,” he said. “He falls down because his tummy muscles haven’t developed properly.”
Tj must wear a helmet when he is outside in case he falls over and is currently receiving medication – the only treatment available – which might lessen some of the symptoms.
“Because of how long it’s been untreated, they’re not sure how effective it’s going to be,” said Terry.
The family was told by Great Ormond Street Hospital Tj should have been diagnosed when he was two years old.
Hayley described the moment they were told Tj’s condition as ‘devastating’.
“We know the outcome,” she said.
Terry and Hayley are raising awareness of the disease in a bid to boost detection rates and funds to help Tj. “The consideration from people we don’t even know has been overwhelming,” said Terry.
Of his son, he said: “He just keeps smiling. He’s such a nice-natured kid.”
Raising the profile
A DAD went the extra mile this week, as he took to the saddle to raise awareness of his son’s incurable illness.
Terry Colwell biked from Basingstoke to his mum’s house in St James’ Square, Chichester, on Monday.
“The actual route itself was just over 42 miles because I came through all the back roads,” said Terry.
He said the last half of the ride was definitely the most difficult, with his body sore and his legs ‘very tired’.
“I left Basingstoke about 10am and got here just after 4pm.
“I’ve not ridden a bike since I passed my driving test when I was 17.”
He said he bought the bike a month ago.
“I would do it again. It’s all about raising money for Tj.”
Tj was diagnosed in April with Niemann-Pick disease, a rare genetic illness which is incurable and life shortening.
Tj’ mum Hayley said of the ride: “I was surprised but I knew he would do it. He’s one of those when he puts his mind to it he’s got to do it.”
Since Tj was diagnosed in April, there have been a number of events taking place in support of him and to raise awareness of the disease. Some of Tj’s parents’ friends are even doing skydives.
Wristbands in support of the disease are on sale in LA Fish, in The Hornet.
Also visit www.niemannpick.org.uk for more information.