Fred James, 3, could suffer fatal fit if gets too hot to overheats
But this isn’t an option for little Fred James as it could quickly lead to his death.
The three-year-old suffers from a rare genetic condition which means he was born without sweat glands and can’t sweat.
If Fred gets too hot and overheats, he could suffer a fatal fit.
Parents Jon James, 39, and Sarah Jones, 33, from Truro, Cornwall, have to ensure their son keeps cool by using fans, water sprays and ice packs.
Miss Jones, who is Fred’s full time carer, said: ‘We do everything possible so he doesn’t over heat. It means he has to be watched all the time.
‘He’s had convulsions when he’s overheated. They’re horrific. It’s extremely scary.’
She said she knew something was not right with her son from the moment he was born.
Fred had to be resuscitated after having breathing problems and he was kept in intensive care for the first four days of his life.
He also had episodes where he went floppy and lifeless.
When Fred was ten months old, he suffered his first seizure.
Miss Jones said: ‘We were at home watching television. I went to check on him and he had threw up everywhere. I shouted for Jon.
‘Fred couldn’t focus on us. He was really hot so we took all his clothes off.
‘Then we realised he was shaking all over. He was having convulsions. We didn’t know what to do so we phone for an ambulance.’
Doctors thought it could be a virus and he was given antibiotics.
However, when Fred’s teeth came through, his mum noticed they were pointed – a classic symptom of called Anhidrotic Ectodermal Dysplasia
Her health visitor suggested Miss Jones take him to a dentist who then asked a specialist for a second opinion.
The specialist immediately said he thought Fred had Ectodermal Dysplasia and the diagnosis was confirmed by medics at St Michael’s Hospital in Bristol shortly after his first birthday.
Miss Jones said: ‘I was relieved we had finally found out what it was. We knew we could put a name to it.
‘I knew something wasn’t right but it was still hard to come to terms with it. It was still heartbreaking.’
The couple, who also have a 13-month-old son Alex that doesn’t have the condition, were then referred to a specialist in Cardiff who told them Fred doesn’t have any sweat glands.
They have now learnt to spot the tell-tale signs he is overheating and react quickly.
Miss Jones said: ‘He goes pink and his ears go red.
‘Sometimes when he is running around he won’t realise he is getting too hot so I get him to stop and have a drink.
‘I pretend to accidentally spill some water over him and make it into a game.
‘I’ll soak his t-shirt in cold water and I keep a sun hat in my bag.
‘When I know it’s going to be really hot, I plan things to do inside.
‘We always have the windows open and we keep the heating off.
‘Summer is always a worry. Everyone loves the hot weather but it’s hard for us. I dread it in a way.’
But Miss Jones says she is determined Fred, who goes to pre-school, doesn’t miss out on things.
She said: ‘He is extremely happy. He loves running and playing. We make sure he does everything like other children. We just have to be really careful.’
Mr James, who is a regional development underwriter for an insurance company, and Miss Jones have been supported by the charity, Ectodermal Dysplasia Society.
Diana Perry, Chief Executive of the Ectodermal Dysplasia Society, said: ‘Overheating is the biggest worry as it will lead to fits and ultimately death if not monitored properly.
‘There can also be problems in the winter months in maintaining an adequate body temperature, i.e. they get too cold and have difficulty in warming up.
‘The other major symptom is lack of teeth. Some children have no baby teeth at all and maybe a few adult teeth. The teeth they do have are often pointed requiring dentures or implants in the future.
‘The hair is often thin and fine also causing a problem with peers. Nails, skin, eyes, ears, respiratory tract and many other areas are often affected.
‘We promote that children live a near normal lifestyle, but they can only do this if the correct procedures are put in place to help them.’
Just 400 people in the UK have Ectodermal Dysplasia. Other symptoms include fair and sparse hair, respiratory problems and very dry skin. There is currently no known cure.
SOURCE: Daily Mail
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