Sean and Joline Dunlap adore their children – Jackson, 3, and Sloane, almost 1. The young couple does everything a typical family does. They take them swimming in the backyard wading pool. They go on outings to the Memphis Zoo and Home Depot. They enjoy watching movies together.

The Dunlaps also do some things that most young parents do not have to do, including suctioning around Jackson’s tracheostomy, and arranging for home health nurses to help care for their son, who cannot breathe, eat or move on his own.

And they bring both children to Le Bonheur Children’s Medical Center every two weeks for an experimental enzyme replacement therapy that has saved Jackson’s and Sloane’s lives. In addition, this therapy has enabled Sloane to escape the devastating effects of the genetic condition that she and her brother share – Pompe disease.

Because of Jackson, Le Bonheur is one of about 100 international sites participating in this enzyme replacement therapy protocol that is showing results in previously-untreatable Pompe disease. Because of Jackson, Sloane was diagnosed with the condition prenatally, and has received the therapy since she was two months old. Besides some upper body weakness, Sloane shows no visible signs of the disease.

At nine months, “Sloane is the same age as Jackson was when we found out he was sick,” Sean said. Having an ’active child’ “is a brand new experience for us.”

Children with Pompe disease lack an enzyme that breaks down glycogen in the muscles and turns it into glucose, the body’s energy source. Instead, the glycogen builds up in the muscles causing them to deteriorate. Sadly, newborns with the disease rarely live more than a year.

Clinical geneticist Eniko K. Pivnick, M.D., who is on Le Bonheur’s medical staff,  diagnosed Jackson and is principal investigator for the protocol at Le Bonheur. Dr. Pivnick is an Associate Professor of Pediatrics at the University of Tennessee Health Science Center (UTHSC) where she has been on the faculty since 1997.

“The baby (Sloane) looks like a million dollars,” she said. “This is the greatest professional reward of my life. It’s the first time in my life I could make a difference. Geneticists can usually tell you what is wrong, but we can’t fix it.”

Dr. Pivnick is quick to point to the many other medical professionals involved in the treatment of Jackson and Sloane. For example, pulmonologists and cardiologists are deeply involved in their care because of the impact of the disease on the heart and lungs. Research associates help coordinate the study with the children’s pediatricians and with all health care providers when the children are hospitalized. They also schedule all necessary tests, such as X-rays and blood work, that are performed by Le Bonheur’s staff. The infusions, which can last up to eight hours for each child, are checked by the nurses on Le Bonheur’s metabolic unit. They also track the children’s vital signs every 30 minutes.

Joline calls Jackson a “trailblazer” and “pioneer’’ for Pompe disease in the Mid-South. Severely affected by the disease, Jackson communicates through eye gaze, but his mind his sharp. His parents can see the effects of the enzyme replacement therapy, which he has received since he was 15 months old.

"He can twitch his toes or feet now. That is a big deal to us. At one point he just did eye movement,” Sean said. “He has better head movement now, and he can wiggle his chest. It’s funny to see him do that.”

Despite the constant medical and financial challenges, the Dunlaps – both 30 – remain upbeat. “ We still have him, and he’s a blessing,” Sean said. “We are strong in our faith, too. We think there is a reason for everything.”

Jackson’s room seems to be the heart of the Dunlap home. With cloud-covered blue walls, the room is filled with books and movies. Multi-colored fish hang from the ceiling and beads decorate the window. Jackson loves to be read to from books like Mike Mulligan and his Steam Shovel and Little Whale Tale, and he loves to watch Veggie Tales videos. His grandmother comes to the house on Sundays to give him his Sunday School lesson.

On a recent visit to the Dunlap home, Sloane behaved like a typical busy baby – playing with a musical, blue-and-yellow train and reaching for everything in sight, including pictures, papers and a cell phone. She can stand, supporting herself against her mother. 

After his examination, the cardiologist gave Joline the shocking news that Jackson was dying of congestive heart failure, she said. Jackson was transported to Le Bonheur from the cardiologist’s local office by Pedi-Flite. After an excruciating week of testing and waiting, Dr. Pivnick gave the Dunlaps the grim diagnosis.

Along with the news, Dr. Pivnick tried to offer some comfort and promised to look for an experimental protocol to try to treat Jackson. “She gave us hugs,” said Joline.

Dr. Pivnick notified Duke University – a major site in the international enzyme replacement protocol. She also began working to set up Le Bonheur as a site in the study.

Because existing protocols were closed at that time, Jackson did not start receiving the enzyme, called Myozyme, until he was 15 months old and a new protocol opened in Gainesville, Fla. Joline and Jackson lived in Florida for several months until the protocol site was set up at Le Bonheur.

It was difficult for the Dunlaps to be separated for so many months, but it was worth it to get the life-saving enzyme for Jackson. The Dunlaps are undergoing another separation now as Sean has been transferred to Little Rick, Ark., for a much-needed work promotion. Joline is living with her parents in Collierville until she can set up necessary medical services for Jackson, such as home health and durable medical equipment, in Arkansas.

After they move to Little Rock, the Dunlap children will commute to Le Bonheur every two weeks for the enzyme infusions. Genzyme Corp., the Cambridge, Mass.-based company that makes Myozyme, has agreed to assist the family with gasoline expenses because Jackson is in the clinical trial for the drug.

The Dunlaps’ devotion to their children and their optimism have been felt by everyone, said Kim Fisher, Ph.D., research nurse director for the Pediatric Clinical Research Unit, which coordinates the complicated data for the protocol at Le Bonheur. “They have been such an inspiration to everybody who takes care of the kids.”

For research associate Taurus Rogers, who handles Jackson’s data for the protocol, the Dunlap children are an inspiration as well. “To see these kids and their will to live a somewhat normal life, and to watch them experience things and communicate is really something,” he said. “I feel as though they are my own kids at times.”

As rare as it is – Pompe disease affects only 5,000 – 10,000 people in the developed world - a third child from the Memphis area has been diagnosed with Pompe disease and is now receiving the enzyme replacement therapy at Le Bonheur.

Kamarian Taylor, 3, of Fayette County, is showing improvement with the enzyme infusion, according to his mother, Josephine Coach. Josephine said that before the infusions, “he couldn’t move his legs. Now he ’s using his legs more.” She notes he also is sitting up more steadily and rolling to move around.

Because of the enzyme and the care of Le Bonheur’s medical Staff, Joline and Sean have hope for their children’s futures. For Sloane, Joline says, “we want to see how many (developmental) milestones she can meet and maintain. We have the enzyme. The foundation is being laid so that we can see what we can do.”

For Jackson, his mother Joline hopes that, “he’s always happy, and as productive a member of society as possible.”

Despite the daily challenges, Joline and Sean are encouraged. “ We want to keep them alive until the cure is found,” she said.

Story by: Leigh Ann Roman

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