Katie Pulling was a medical mystery...

QIMR researchers diagnosed Katie's disease and cured her.

Having spent years in and out of hospital, Katie had almost given up hope of ever being well.

“It was very confusing and daunting... seeing doctor after doctor and hearing them say ‘We don’t know what is wrong’, ‘We don’t know why you are so sick’,” said Katie.

Dr Maher Gandhi, head of QIMR’s Clinical Immunohaemotology Laboratory was asked to tackle this difficult case. “Katie presented with a range of symptoms when she was 11. No one could identify her condition. She did not respond to regular treatments,” said Dr Gandhi.

Katie contracted infections that would not usually cause problems for a healthy young woman. These infections would come back again and again. The real serious problems began at the age of 16-17, when Katie contracted a virus that causes glandular fever, which usually causes fatigue that lasts about three weeks.

Instead, Katie developed a full-blown version known as fulminant infectious mononucleosis (FIM). This is an incredibly rare, deadly disease that appears as a fever, enlarged spleen and lowered blood cell levels.

Dr Gandhi finally discovered that the signals in Katie’s immune system were not functioning normally. This meant her immune cells could not communicate with each other.

 “I couldn’t believe the results I was getting. I repeated the results several times, and we thought there was some sort of error. They didn’t match up to any disease I’d seen before,” said Dr Gandhi. “We had to design our own assays to try to determine the problem with Katie’s immune system.”

The only treatment was to replace her immune system.

“With no other options, we contacted Dr Glen Kennedy, an expert in bone marrow stem cell transplantation at the Royal Brisbane Hospital, to see if this might offer a cure. The transplant was dangerous, but the results were amazing. The defect in Katie’s immune cells is fixed,” said Dr Gandhi.

Katie is now enjoying living her life as a normal 23-year-old.

“I am now back to full-time study and loving it. Dr Gandhi was the only one to shed light on the reason for my illness. It was so great to have someone devote so much time and energy to trying to find a cure,” said Katie.

As featured in Lifelab June 2010