Driffield family hopeful for cure for baby with rare disease
"He was transferred to Leeds General Infirmary's intensive care unit on the Thursday, and then he remained in a medically induced coma for eight days while they tried to understand exactly what was going on," said Mr Dodds."As we were leaving, we got pulled into a room and told that we've got results back on one more test, and it appears Charlie's got a rare mitochondrial condition called PolG and there's no effective treatment and it's incurable."Over time the symptoms will take hold on his body and cause the regression."Five days later Mr Dodds, who works in construction management and competes in Hyrox contests, decided to begin a fundraising challenge.
He said: "I was texting a friend who is in London. He's doing an ultra-marathon in Slovenia next month and we started to say, 'let's try and do a bit of fundraising. Let's do a bit of a run."By 20:00 we had the fundraising page set up and we agreed £2,000 each."We shared the page, it went live and went to bed, woke up the next morning and to our surprise, we'd already surpassed the £4,000 mark within 12 hours."And then it was almost as though the floodgates opened in terms of generosity and support, because we got to 48 hours later and we broke the £25,000 mark."Seven days on we surpassed the £33,000 mark."The family, from Driffield, are hoping the money will fund research to find a cure and effective treatment for the condition.Meanwhile, they are meeting with experts from across the globe to find a way to help Charlie."We're speaking to professors in Helsinki, in Norway, in Australia, in Canada, Switzerland, United States," Mr Dodds said."And we have had extremely good support, but it has also confirmed how the condition is so rare."A lot of science is dedicated to more common diseases."We're reassured there is some extensive research going on across the world and we're not too far away from effective treatment and supposedly a cure."Money raised from the marathon, taking place in York on 19 October, will go to The PolG Foundation, an American organisation that funds research and supports families."At the moment Charlie is happy," said Mr Dodds."He's smiling. He appears pain free. "He's still very much the Charlie that he was before 9 July."We're taking it one day at a time and focusing on the here and now, and enjoying the moment with it."
Listen to highlights from West Yorkshire on BBC Sounds, catch up with the latest episode of Look North.
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According to the NHS, there are four types of chiari malformation, with type 1 the most is thought to affect one in 1,000 births, and can cause painful headaches, movement problems, dizziness and muscle also developed syringomyelia, which affects roughly eight in 100,000 people, in which cysts form on the spinal is one of an estimated 7,000 rare diseases under the UK Rare Diseases Framework. Charlotte's dreams of dancing were put on hold while she had emergency brain added: "I was really scared about the nature of it and I did genuinely have a fear of, am I going to survive this?"Although no-one could have predicted what was to happen, she says there was no time to acknowledge that this was a significant moment in her life."Just to have a human kind of conversation with somebody would've been invaluable," she says. "Because it does impact your sense of identity and nobody ever talks to you about that." Surgery in 2015 to remove the base of her skull was successful. It alleviated the pressure and unblocked the cerebral spinal fluid so it could flow from the brain to her recovering from surgery, Charlotte briefly returned to teaching dance, but had to stop completely due to worsening head and neck pain because of the November 2018, Charlotte unexpectedly started losing weight. By January, she'd lost a third of her body weight and was admitted to hospital with organ didn't know the new drug she'd been prescribed - which is used to treat epilepsy and migraine - could cause rapid weight loss, nor that it should have been monitored by her GP. But when she was admitted to hospital in early 2019, doctors misdiagnosed her with an eating her three-month hospital stay, Charlotte says she experienced "domineering" and "dehumanising" one occasion, she says she was threatened with being sectioned if she didn't admit to having an eating disorder. 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