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Everday is a fight for life for Jacob.

Byline: Helen Rae Health Reporter

LITTLE Jacob Madgin looks like any lad of four.

But he has hyperek-hyperekplexia, also known as startle disease, which causes him to react in an exaggerated way to being shocked as his entire body becomes rigid.

Jacob, of Wallsend, North Tyneside, has stopped breathing and suffers from seizures and spasms brought on by the life-threatening illness.

It is thought only 70 families worldwide are affected by the inherited condition. One of the most worrying aspects is it can cause Jacob to choke and he is unable to alert others to what is happening as he can't cough or shout as his throat goes into spasm.

Mum Lesley, 48, a teaching assistant, said: "You never know what might trigger Jacob's condition. When I was opening a box of blueberries the noise of the plastic as I opened the lid set him off.

"In the past it used to be animals as he could not go passed a dog without going into spasm, but now he's fine with dogs. Another time he asked to have a ride on a pony but as he approached the pony his whole body went stiff.

but I try to treat him as I would any child, although it's difficult to cut the apron ties as I worry about him all the time."

Anything can set off Jacob's condition and the unpredictably of the illness makes it almost impossible to know when he will have a serious episode.

Jacob was born naturally five days early, weighing a healthy 7lb 10lbs. But within 32 hours Lesley and husband Allan, 56, a nursing assistant, knew something was wrong with their son as he "was twitchy and upset."

He was unable to be breast or bottle feed because every time his nose touched a teat it would trigger a spasm and he had to be tube fed. But it was not until he was eightmonths North East experts made an official diagnoses after Jacob underwent a number of tests and examinations.

Now the family try to avoid anything that might scare Jacob - even water being splashed on him.

Lesley said: "When Jacob was initially diagnosed I felt OK about it because we were told that the most difficult time would be the first year of his life and I felt it could be his life and I felt it could be worse. But it's a very diffiworse. But it's a very diffi-cult condition to manage cult condition to manage and I have to watch him all and I have to watch him all the time as he can choke the time as he can choke on anything. It is sad that on anything. It is sad that he has this hereditary conhe has this hereditary condition and I do worry that dition and I do worry that he will get teased as he will get teased as he gets older. We just have to gets older. We just have to take it one day at a time, take it one day at a time, but Jacob has not got but Jacob has not got an awareness of an awareness of danger and that makes it even worse." worse."

Tomorrow Jacob will start Jacob will start his first day at his first day at Battle Hill PrimaBattle Hill Primary School and he ry School and he will get one-to-will get one-toone support to one support to make sure he's safe and well.

Luckily, the schoolboy has not known any different and continues to enjoy ent and continues to enjoy life to the full.

Lesley added: "Jacob has a brilliant sense of humour and he's a fantastic, funny boy that everytic, funny boy that everybody loves. He attracts body loves. He attracts people wherever he goes and he's always smiling. He is a very quick, bright and intelligent boy."

" Both Lesley and Allan" Both Lesley and Allan carry the faulty gene that crry the faulty gene that causes hyperekplexia, but fortunately their eldest son, Josh, seven, did not inherit the illness.

Jacob is monitored by consultants at the Great North Children's Hospital, based at Newcastle's Royal Victoria Infirmary, and takes medication to relax his muscles.

Action Medical Research has funded studies look-looking at the genes that cause the condition and Lesley is keen to raise awarenes.

Dr Caroline Johnston, research evaluation manager at Action Medical Research said: "Although the symptoms of startle disease often fade by the time babies reach their first birthday, they can continue throughout childhood and into adulthood, with some children experiencing severe breathing problems and others having learning dif-dif ficulties.

"Action has funded research looking at the genes which cause startle disease in the hope of giving more babies access to a full diagnosis. The research could lead to a new genetic test for babies and children. If diagnosed correctly, babies can be treated with drugs that help reduce the unwanted startle reaction and also reduce muscle stiffness."

Action Medical Research has launched a new 'Bear Miles for Breakthroughs' appeal featuring Paddington. To donate visit


Jacob Madgin with his mum Lynn - he looks like |any other lively lad of four - but this disguises his very rare genetic condition
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Publication:Evening Chronicle (Newcastle, England)
Date:Sep 3, 2014
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