Experimental DNA test helps diagnose Cottage Grove teen
Next-generation genomic sequencing tests for viruses, bacteria, fungi
COTTAGE GROVE, Wis. — This spring Cottage Grove teenager Joshua Osborn will most likely be found on his trampoline, which is a welcome change from last summer when the 15-year-old was hospitalized and in a coma.
“I don’t really remember much about being in the hospital,” said Osborn when asked about his stay.
As a child, Osborn was diagnosed with severe combined immunodeficiency, the same disease made famous by the movie “Bubble Boy,” but the fevers and headaches he experienced were from something else.
“I just wouldn’t be able to focus or concentrate even if I wanted to. I just wanted to stay in one room where it was dark,” said Osborn of his headaches.
The symptoms began last April and they only got worse. Osborn made a couple trips to the hospital, each time he showed improvement and was cleared to go home, but the fevers and headaches persisted. By July, doctors said it had been going on for too long and Osborn had to be hospitalized.
Osborn reached a point where he was put in an induced coma to prevent brain damage from seizures.
He had meningitis and encephalitis, but no one knew why.
“They tested for everything they knew. They tested for viruses and bacteria and ultimately he had a brain scan and two or three spinal taps,” Osborn’s dad Clark said. “We just knew without a shadow of a doubt that they were doing all that they could so we just had to trust God and wait.”
Osborn’s physician Dr. Jim Gern, an immunologist at UW Health, contacted researchers at University of California San Francisco. Gern connected with Dr. Charles Chiu, a professor of laboratory medicine and creator of an experimental DNA test that would give the Osborns an answer.
The family was guardedly optimistic.
“We knew that we had an urgency, that we had to act since he was critically ill at the time,” Chiu said.
Chiu wrote the code for what has been called the next generation of genomic sequencing, a way to test for viruses, bacteria and fungi quickly.
Using Osborn’s DNA, Chiu’s team tested for 10 million sequences and found the root of illness.
In less than two hours the sequencing showed leptospirosis, a bacterial infection, was what caused Osborn to become critically ill.
Chiu said it felt good to call his counterparts in Wisconsin with an answer. Osborn was treated with penicillin and his health improved over a couple of days. He left the hospital in September 2013.
“The ability to take your research and translate to care of patients, there probably isn’t a kind of better feeling in the world,” Chiu said.
Osborn has been trying to catch up with schoolwork from home and still suffers from mild and infrequent seizures, but his father said there is no evidence of the leptospirosis.
“All I can tell you is I’m happy to be alive. I have dreams and I’m looking forward to accomplishing them,” said Osborn, who dreams of being a singer or working in film.
The DNA test Chiu wrote is experimental. He has made the code for the test available for public use because he believes it could benefit humanity.