Boy, 4, who suffers from life-threatening startle disease, to start school

A four-your-old boy with a rare condition can literally be left scared stiff by everyday occurrences, like passing a dog in the street or his mother opening a packet of blueberries, she has said.

Boy, 4, who suffers from life-threatening startle disease, to start school

A four-your-old boy with a rare condition can literally be left scared stiff by everyday occurrences, like passing a dog in the street or his mother opening a packet of blueberries, she has said.

Jacob Madgin has hyperekplexia, also known as startle disease, which causes his body to overreact to shocks and make his muscles tense up. It is thought only 70 families in the world are affected.

His father Allan, from Wallsend, North Tyneside, said he has lost count of the number of times his son has had to be rushed to hospital by ambulance, as some seizures and spasms can lead to him choking as his throat goes rigid.

Yet Jacob will be starting school tomorrow, going to Battle Hill Primary along with his seven-year-old brother Josh, thanks to an improvement in his condition brought about by muscle-relaxing drugs.

The neurological condition was diagnosed when he was eight months old, but he had shown difficulties in feeding from the outset. Being breast or bottle fed would cause him to spasm if his nose touched the teat, so he had to be tube-fed.

As he got older, other routine incidents like seeing a dog or horse could send him into a spasm which could stop him breathing. Previously when his mother Lesley opened a plastic pack of blueberries the sound set him off.

Mr Madgin, 56-year-old nursing assistant, said: “I have lost count of the number of times we have had to be blue lighted into hospital.

“I have had to give him mouth-to-mouth myself three times before the paramedics arrived.”

His condition has improved so he no longer has full seizures, but goes into spasm. However, these too can be life-threatening.

Mrs Madgin, 48, said: “When he chokes, everything respiratory goes into spasm. He doesn’t alert anybody, he doesn’t cry or cough there’s none of that, he just goes blue and collapses.”

Mr Madgin said: “It is a life-long condition, but he is getting better now. The threat is still there, it is just not as bad as when he was a baby.”

The family have slowly introduced pets to their home and now have a cat and a puppy, which their boys love.

“That has really helped him,” his father said. “He does shock less now, without a doubt.

“He is a lovely, happy boy, always smiling and he has really taken it in his stride.”

Mrs Madgin, a teaching assistant at her sons’ school, is apprehensive about Jacob’s first day.

“It’s a massive step,” she said. “But it is a natural progression that you would expect for any boy.

“The big thing is the choking risk but the school has been absolutely brilliant and he will have one-to-one support and they have a medical care plan for him.

“He will be staying in for his lunch which is a big fear for us but we have to let him.”

She has been determined to let him do activities, and tries to never stop him trying new experiences like climbing and taking dance classes.

A two-year study by Action Medical Research has been carried out into the genes that cause hyperekplexia.

Dr Caroline Johnston, research evaluation manager at Action Medical Research said: “Understanding the genetic causes of startle disease is vital to ensure that babies get the correct diagnosis and treatment.

“Action has funded research in this area in the hope of giving more babies access to a full diagnosis so that they can be treated with drugs that help reduce the unwanted startle reaction.”

“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 difficulties.”

Lead researcher Professor Robert Harvey said: “Results from this study have resolved many additional cases of startle disease and uncovered new disease mechanisms.

“We feel this will have widespread impact in the care and wellbeing of startle disease patients.”

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