You Be the Doctor: What's Making Evan So Sick?

Aug. 19, 2008 — -- When three members of the McClow family got a bad cold, 16-month-old Evan didn't get better when his twin sister, Alison, and their father, Keith, did.

Teresa McClow, Evan's mother, said she remembers coming home from church one night and Keith telling her that Evan was experiencing rapid breathing and a fever.

"I could feel his heart pounding," Keith said. "We decided to call the pediatrician. ... She was very concerned and asked us to go to the ER."

"We were given Tylenol or Motrin to treat the fever," Teresa said.

The couple brought Evan home, but that night his temperature rose to 103 degrees.

"The pediatrician wanted to admit us to the hospital because the chest X-ray looked serious," Theresa said. Their pediatrician began to worry that Evan might have tuberculosis.

Farmer's Lung or Fungus?

Evan was taken to Advocate Hope Children's Hospital, in Oak Lawn, Ill., where doctors suspected he might have an infection. Lung specialist Dr. Javeed Akhter began asking about the McClows' family history.

"Evan was doing much worse than either Alison or Keith. ... It was indeed a little bit worrisome," Akhter said.

If it was a genetic problem, surely the twins would both be showing it, doctors thought. Then they asked whether the family had pet birds, or lived near a farm, because there's a serious allergy some people develop called Farmer's Lung.

"This was interesting to me because I work on a farm," said Keith, who works on a "living history" farm that's based on how people lived in the late 19th century and is also a tourist attraction where visitors can work on the farm with the "family" that runs it.

Because of Keith's job, doctors began to do blood work on Evan, and Theresa recalls that "Dr. Akhter wanted to perform a lung wash." A bronchoscopy was ordered to take samples from Evan's lungs.

"We actually tested for everything that could possibly cause pneumonia in this child," Akhter said. "After we did the extensive testing, we found only one slightly abnormal result. We said, 'We're not certain what Evan may have, but it's possible that he may have some histoplasmosis.'"

Histoplasmosis comes from a fungus, and the McClows had a big pile of mulch -- brimming with fungi -- that the kids had played in.

"We had requested that two tons be delivered so that we could distribute this mulch around plants and trees," Teresa said.

"Mulch exposure can be problematic because it has lots of fungi in it," Akhter said.

"Dr. Akhter never said to me that he was sure it was the mulch pile, the wood chips," Keith said. "But he said it was a good idea to get rid of it."

'What Do We Do Now?'

After being treated with anti-fungals, Evan was sent home after a few days. Keith said his son "looked good" and "was playful," but suddenly his fever returned, and Evan was coughing and couldn't keep food down.

"Of course we immediately hospitalized him," Akhter said.

"I just remember thinking to myself, 'What's the next step? What do we do now?'" Teresa said.

"When I saw the X-ray and the worsening, I knew that we were dealing with some rare and possibly fatal illness and that we had to move to the next [step], which would be an open lung biopsy," Akhter said. "When we saw Evan back again, my anxiety level was much higher. And there was a great sense of urgency that we needed to find out exactly what was wrong with Evan. Otherwise we may lose him."

The Diagnosis

"After we did the biopsy, the results came back the same day," Akhter said. "The pathologists told me two things: One, that Evan had a fungal pneumonia. And two, they also found clusters of what are called granulomas."

Evan had numerous types of fungus in his lungs, as well as the granulomas, which are white blood cells surrounding a foreign invading body.

"Because they can't kill it, they surround it," said Keith.

Evan's white blood cells weren't working. A rare genetic disorder, chronic granulomatous disease of childhood, or CGD, could cause that. But if it was genetic, wouldn't his twin sister have it, too?

As it turns out, not with CGD, which is carried by the mother but only shows up in boys.

"Dr. Akhter gave us the diagnosis of CGD. Yet, I have a son who's still lying in a hospital bed in critical care," Teresa said. "I felt as though he wasn't going to make it at this point."

"We're treating him, but it looked like he was still getting worse," Akhter said.

Doctors decided that because the white blood cells weren't working, they'd try giving him a white blood cell transfusion.

"After laying there for a month lifeless, suddenly, he started to try to open his eyes," Keith said. "Once he started responding to the treatments, Evan recovered pretty rapidly."

Evan will always need medicine for his white blood cells, but now he's playing with his twin sister again.

"Evan is jovial. And funny," Teresa said. "Looking at him, you would never know what Evan experienced. What he went through."

So if you chose option C: Genetic Disease, you were right. Evan has CGD, a genetic disorder of the immune system, which allowed a host of infections to invade his body.

For more information about CGD, visit http://cgd.cultivatecommunity.com andhttp://www.cgd.org.uk/.