Published: June 9, 2011
Updated: June 9, 2011
In 1979 the family of two-year-old Burns Blackwell learned he had a rare, multi-generational disease known as chronic granulomatous disease (CGD).
This was the same disease that claimed his grandmother’s brother as a toddler -- in fact, at the same age as Burns’s diagnosis.
Burns’s family was immediately referred to Duke Children’s Hospital & Health Center to see Rebecca Buckley, MD -- the beginning of a long and meaningful relationship.
CGD is a primary immunodeficiency disease (most common in males) affecting the white blood cells, which, left untreated, can claim life within the first few years. The white blood cells can “surround” infections but are powerless to kill them. So when the cells die, the infection is released back into the body.
Burns is particularly susceptible to fungal and bacterial infections. He has to have medicine to fight infection because his body cannot do it alone.
At age 10 Burns had a serious fungal infection that required a seven-week hospital stay -- something no child should have to go through. Later, the creation of an outpatient service now known as the Valvano Day Hospital in the Children’s Health Center transformed his care.
Instead of being an inpatient for treatment of infections, he could stay at home and come in daily for outpatient care. Burns and his family wouldn’t realize how important that would be until just over a year ago.
In February 2010, Burns became quite ill and began a battle -- his hardest yet -- which would last nearly 10 months. Patients with CGD show signs of infection, but cultures to determine the specific germ are often negative, making treatment difficult.
“Most of the time we don’t know exactly what we are fighting, but the doctors always find a solution,” says Burns, now 34. “Normally after three to four months the battle would be over. This time I wasn’t improving.”
In May, doctors located an infection in his spleen, but scans and tests were inconclusive as to the type of germ causing the infection. So Burns began a daily six-to-10-hour regimen of antifungal medicines in the Valvano Day Hospital.
He endured many reactions and side effects. Still Burns remained positive and strong. He and his fiancée Laura Mills counted down to their September wedding, along with the staff at the hospital -- all hoping he would be well enough for the big day.
“One of the first things I grew to love about Burns was his amazing strength,” says Laura.
“He tackles everything in life wholeheartedly. When I first learned of his illness, I did not know what to expect -- I had never heard of CGD. But thanks to his patience and the kindness of all the staff at Duke Children’s, I was taught about the immune deficiency and treatment that was consuming our days. And even though it was taking up most of our time together, we did not let it shape our lives.”
Burns was given time off from treatment for the wedding. The staff in the Day Hospital threw a surprise party the Thursday before the wedding. With the care of a home health team to provide him potassium and fluids over the weekend, Burns went home to Greensboro to enjoy the celebration with family and friends.
“I had more energy those two nights than ever before in my life,” says Burns. “We had an amazing wedding. Dr. Buckley attended and sat with the family in the second row. Our honeymoon was four days at a Chapel Hill hotel so I could be close to Duke Children’s. I paid greatly for being off the medicine for several days, but I wouldn’t trade it for the wonderful experience of my wedding. We danced all night.”
Still, the infection was not under control, and Burns had to return to his regimen of care -- his daily visits to the Day Hospital.
The toll of the treatment was becoming unbearable, and Burns asked for surgery to remove his spleen. Buckley had managed his disease for more than three decades, rarely having to resort to surgery.
“Other people with this disease are all cut up, having multiple surgeries to remove infections,” says Burns. “That is not Dr. Buckley’s style. Quality of life is very important to her.”
Buckley agreed that surgery might be the only option. She left to give a talk at a conference, staying in close touch with Burns. After her lecture, she was discussing Burns’s condition with two investigators at the National Institutes of Health.
They had just discovered a new germ, one that is resistant to the antibiotics that would typically be used in a patient with CGD.
Buckley quickly called Burns -- two days prior to his surgical consultation -- to give him the news. They tried a new course of treatment, with an antibiotic directed against the new germ, and Burns was feeling better within three days.
“I don’t know how my life would be different without Dr. Buckley,” says Burns. “She knows more about me than I do. She’s like a grandmother to me. She’s the person I call when I don’t feel well.”