Jacob with Hyperekplexia Experience Extreme Stiffness
September 15, 2014
A 4-year-old boy has been diagnosed with a rare, life-threatening illness that means he could literally be scared stiff at any moment, The Chronicle Live reported.
At 8-months-old, doctors diagnosed Jacob Madgin, of North Tyneside, England, with hyperekplexia – a disease which causes him to react in an extreme way to being startled.
The hereditary disease is usually found in infants, but may also affect children and adults. Patients diagnosed with hyperekplexia are found to have extreme muscle tension and an exaggerated startle reaction to unexpected stimuli, like loud noises, according to the National Organization for Rare Diseases (NORD).
During a reaction, muscle tension may prevent voluntary movement, possibly causing a patient to have trouble breathing, or to fall to the ground without losing consciousness, according to NORD.
Jacob’s mother, Lesley Madgin, said Jacob has experienced reactions which have caused him to stop breathing, and also suffer seizures and spasms.
“You never know what might trigger Jacob’s condition. When I open a box of blueberries, the noise of the plastic as I opened the lid set him off,” she told The Chronicle Live.
Jacob suffered his first episode when he was less than two days old. Doctors had to use a feeding tube because the touch of a bottle to his nose triggered a spasm, according to the report.
Now, the family says they try to avoid anything that might startle him.
“It’s a very difficult condition to manage, and I have to watch him all the time as he can choke on anything,” Lesley told The Chronicle Live.
There is no known cure for the disease, but muscle stiffness may be treated with certain medications.
Jacob will attend school in the fall where he will have one-on-one support to ensure his safety, the report said.
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