‘Jasper’s syndrome:’ Doctors struggle to diagnose newborn’s mystery medical condition

Published April 16, 2013

| FoxNews.com

Jasper Holt, born on Monday, has a medical condition that doctors at Newcastle’s Victoria Royal Infirmary in the U.K. say they’ve never seen before, The North-West Evening Mail reported.

The early birth was prompted by an ultrasound, which revealed the baby's health problems. 

“We were told that Jasper had problems with his kidneys and brain,” Jasper’s father, Jeffrey, told the Evening Mail. “It was devastating. Days later, we had to go to Newcastle. It has been a total nightmare. We were initially told the baby had a brain development problem called lissencelphaly. Subsequent scans showed that wasn’t the case, and what was wrong was basically unknown. As well as the other problem, he also had a small jaw.”

Jeffrey Holt said his son’s heart and kidneys worked at birth, despite the kidneys being shaped like a horseshoe (they are not separated), and the newborn was put on a ventilator. The baby also has a cleft palate.

Jasper, who weighed about 5 pounds at birth, had surgery at 1 day old, which included a reconstruction of part of his abdomen, the Evening Mail reported.

Doctors told Holt, and his girlfriend, Gemma Moorby, they thought Jasper might have a chromosome problem, but Down’s syndrome has already been ruled out.

A MRI scan revealed Jasper also has cysts on his brain.

For now, doctors are calling the condition “Jasper’s syndrome.”

“They have been doing lots of tests, and it could be years before we find out what chromosome has been affected,” added Holt, who also has a 19-month-old son with Moorby.

Click for more on this story from the Evening Mail.

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