By Janice Gaston, Winston-Salem Journal, N.C.
Dec. 26–YADKINVILLE — Now that he is crawling, Luke Pennell can explore his living room on his own. He can sit at the storm door and peer at the world outside.
He likes to lick the glass barrier that protects him.
Sometimes visitors come and stand on the front porch. They coo at Luke, make funny faces and talk to him and his mother through the glass. Unless they wear masks, sterile gowns and gloves, like a surgeon in an operating room, they can’t hug him or kiss him or even hold him.
The other day, when his grandmother stood at the front door, Luke kissed her through the glass.
Luke, who turns 1 on Friday, can’t risk those hugs or kisses — not even from his older brother and sister. A germ that most of us could fight off with no trouble could kill him.
A defective gene left Luke with severe combined immunodeficiency, also known as SCID or the “bubble-boy disease.” Most people became aware of the disease in the 1970s through the story of David Vetter, a Houston boy born with SCID who lived his life in a sterile plastic bubble. Vetter died at 12.
SCID babies develop one infection after another. If the disease is undetected, most of them die of a severe infection before they reach the age of 1. According to the National Human Genome Research Institute’s Web site, 40 to 100 of the 4 million or so babies born in the United States each year have SCID. But experts say they think the figures are actually higher because newborns are not routinely tested for the disease, so it often goes undiagnosed.
The best known treatment for SCID is a bone-marrow transplant, and it is most effective if done within the first three months of a baby’s life, said Dr. Rebecca Buckley, one of the leaders in treating SCID babies. But many cases aren’t caught until babies are older. Buckley is a pediatrician and a professor of pediatrics and immunology at Duke University School of Medicine.
Luke was 8 months old when doctors who had treated him for various infections and failure to thrive, a condition in which a baby fails to gain weight or grow properly, put the clues together and came up with the SCID diagnosis.
Luke weighed 6 pounds, 13 ounces, when he was born, said his mother, Wendy Pennell. He was the smallest of her three children. His troubles began at the age of 6 weeks, when he developed a cough and a fever. He also vomited frequently.
“I thought it was odd for a breast-fed baby to spit up so much,” Pennell said. Throughout the winter and spring, Luke continued to fall ill, and doctors prescribed antibiotics. Each time, the medicine would help — for a while.
In May, Luke landed in the hospital. He had inhaled food or liquid into his lungs. Doctors found that he had trouble swallowing, so they told his mother to thicken his formula. “By the end of June, he was really sick,” she said.
Doctors found that the muscle at the top opening of his stomach didn’t work properly. When he ate and lay down, food came back up. He needed surgery. They inserted a feeding tube.
Throughout the summer, Luke continued to get sick. His mother missed so much work that she lost her office job at a trucking company.
One day, in desperation, she called an allergy and immunology doctor at Brenner Children’s Hospital who had seen Luke before.
“Luke is sick again,” she said. “Please help me.”
The doctor started treating Luke with antibody therapy to boost his immune system. The day of his first treatment, he got really sick, his mother said. He coughed and coughed, and he wouldn’t eat.
“At 4:30 in the morning, I knew I needed to take him to the hospital,” she said. She arranged care for her two older children — Tyler Brown, 11, and Laken Brown, 8 — and raced him to the hospital.
“He had very noisy breaths,” she said. “One time in the car, I didn’t hear him. I shook the car seat.” Doctors admitted Luke to the hospital. Despite doses of antibiotics and administration of fluids, his condition continued to deteriorate. His temperature climbed.
At one point, Pennell uttered a resigned prayer.
“I know it’s selfish to want to have him on earth,” she prayed. “But I don’t want him to suffer.”
Luke got better. And doctors finally started putting together the clues that led to a diagnosis of SCID. Luke needed a bone-marrow transplant, and he was referred to Buckley. Pennell and her husband had their blood tested. She turned out to be the closest match.
When Luke was admitted to Duke Children’s Hospital, he was suffering from pneumocystis pneumonia, a disease frequently linked to people with AIDS. Although AIDS and SCID are both diseases that damage the immune system, AIDS is caused by a virus, and SCID is caused by a defective gene.
Doctors put Luke in reverse isolation and gave him antibiotics to fight his pneumonia. He didn’t have to wear a mask and gown, but everyone who came into his room did.
Pennell checked into the hospital in late September, and doctors took marrow from two sites in her lower back. What Luke needed were her immature stem cells, cells that would develop into normal blood cells. He received the cells the same day that they were removed from his mother.
If the transplant works, those cells will rebuild Luke’s immune system, and he will be able to lead a normal life. The results take at least 90 to 120 days to show up.
Luke spent nearly three months in the hospital. He is considered disabled with SCID and Medicaid pays his bills. Pennell has no idea how much his treatment has cost.
During his long hospital stay, Pennell sometimes took him to Duke Gardens to see the ducks. She carried a sterile gown to quickly wrap him in if someone came too close. She took him out into the hospital halls at night, when they were empty, so he could play.
Luke left for Duke weighing 15 pounds. He now weighs 22, within the normal size range for his age. He takes several drugs, and every week, he must receive antibody therapy to boost his immune system. He gets the antibodies under the skin through a needle about the size of a post on the back of an earring. The needle goes into his belly, his love handles or his thigh. He takes the hour-long treatments in stride.
Now that he is home, Luke plays with his toys and bounces to the music of Sesame Street. He is a happy baby who dissolves into fits of giggles when his mother tickles him and loves playing peek-a-boo with his blue blanket.
But the two remain isolated. Pennell and her husband have separated. Her older children live, for now, with her mother.
“Schools are full of sickness,” Pennell said. Luke can’t be constantly exposed to the germs Tyler and Laken might bring home. On a recent Sunday, Luke’s sister and brother, garbed in gowns and masks, visited their home to decorate a Christmas tree with their baby brother. A few days later, the image of a snowman and their names, along with baby Luke’s, still remained in chalk on the sidewalk outside.
Her other children miss her, Pennell said, and they want to come home. They are trying to understand why they can’t. It is hard.
“This is a difficult disease for adults to understand,” she said.
Pennell can’t take her son to the grocery store or out to eat. If she needs to go out, she usually calls on her stepmother to stay with Luke.
Out in public, she keeps an eye on the people around her so she can steer clear of people who are coughing or who have runny noses. When she comes home, she immediately changes clothes and washes her hands thoroughly.
Her life may be different, but it’s not lonely, she said.
“He’s got a lot of personality,” she said, “and I have friends who call about every day.” Luke gets plenty of visitors.
“There’s not been a day when someone has not stood on the porch, talking to us through the glass,” she said.
Pennell is grateful for a community that has offered lots of support throughout her son’s illness. One local company, which employs one of her best friends, adopted her children for Christmas. Friends and people she doesn’t even know have sent money and offered their prayers.
Luke’s immune system is now working at about 20 percent capacity. When it reaches 50 percent, she said, she hopes her older children will be able to come home. Luke probably won’t be able to go out and be around people for at least a year.
“Right now, I just dream about him being outside and playing with Tyler and Laken,” she said.
She also has dreams for herself.
“Once he gets normal, I think I’m going to finish school,” said Pennell, who is 31. She wants to earn a bachelor’s degree in nursing. She has already completed basic course requirements, and she has applied to Winston-Salem State University.
“It’s interesting to me. It comes easily, especially now, since I’ve learned so much.”
–Janice Gaston can be reached at 727-7364 or at firstname.lastname@example.org.