Years ago, children with congenital diseases often did not get to grow up. Now they do, and parents and doctors can focus on the challenges these children face along their road to adulthood.
By Laura Mize
Underneath Jim Beau Reinhardt’s left lung, a synthetic patch stitched into place is helping him breathe.
Jim Beau, who will turn 2 in November, was diagnosed with a congenital diaphragmatic hernia during his 34th week of gestation.
Half of his left diaphragm, a muscle under the lung that moves involuntarily to aid in breathing, was missing at birth. The resulting hole allowed his small bowel, colon and spleen to migrate into the chest and push his heart toward his right side, crowding his lungs. As a result, they did not fully develop. Today, Jim Beau’s left lung is about half the size it should be, and the right one also is undersized.
Just a few decades ago, CDH was essentially a death sentence. Diminished lung capacity caused severe breathing and heart problems that medical treatments of the day could not overcome.
Starting in the 1990s, UF pediatric surgeons helped popularize new methods of ventilating CDH patients that were gentler on babies’ lungs and helped them survive. Since then, UF&Shands has become a national destination for treatment of CDH. Today, about 60 percent of CDH patients survive nationwide. At Shands at UF, the overall survival rate “exceeds 80 percent,” says David Kays, M.D., a UF pediatric surgeon who treats CDH.
Surviving CDH isn’t the only challenge Jim Beau has faced in his short life. He also was born with a mild case of tetralogy of Fallot, a collection of four heart defects that combine to allow blood with low oxygen levels to travel out of the heart and throughout the body. Babies with the disease often are born blue. They have difficulty breathing, tire easily and sometimes faint.
Before the first effective treatment for tetralogy of Fallot was developed in the 1940s, most patients did not survive childhood. Today, only 3 to 4 percent of patients die from the disease, estimates Gonzalo Wallis, M.D., an assistant professor of pediatric cardiology at UF.
As treatments for these conditions and survival rates have improved over the past several decades, medical care for the patients who have them has expanded in focus. Patients, parents and medical providers still are working to understand the challenges of bearing these childhood burdens into adulthood.
The big picture
Jim Beau’s two conditions complicated one another, and he endured two major surgeries in his first year of life: one to repair his hernia, performed by Kays, and another to repair his heart, performed by Mark Bleiweis, M.D., director of the UF Congenital Heart Center. So far, Jim Beau is a happy and relatively healthy child. But his conditions and extensive medical care have taken a toll, say his parents, Paul and Mary Abigail Reinhardt.
“There are always some long-term health concerns with CDH babies, just in terms of their development,” says Paul. “He’s probably a little bit behind, but probably no different than any other CDH baby.”
Jim Beau is small for his age, and a very picky eater. He has suffered from gastroesophageal reflux and, as a result of his surgeries, his core muscles are weaker than most toddlers’.
Kays says most of his CDH patients continue to visit for checkups until they start college. He says about half of CDH patients experience significant, but manageable, problems as they age, depending, in part, on the severity of their hernias.
“Those issues can be feeding problems for a few years, and then those issues drop off, (or) asthma for a few years,” he says. “Most of those issues are going to go away over time.”
Children with the condition also can suffer from scoliosis or pectus excavatum, an abnormality that causes the chest to cave inward. In severe cases of CDH, a baby’s underdeveloped lungs and the techniques used to treat them may limit oxygen to the brain.
“We’re very successful (at preventing) this,” Kays says. “But … these babies, the sicker ones, are at significant risk for brain damage.”
Kays and Michael Weiss, M.D., a UF neonatologist, are working to improve strategies for preventing brain damage in CDH babies.
“We have new monitoring techniques that help us be a little more aware of how the brain’s doing. We try to define our treatment protocols so that they’re brain-protective in their strategy, but we still recognize that periods of low oxygen are a risk for the babies.”
Jim Beau’s follow-up visits for his heart and diaphragm have been generally positive. His cardiologists say he doesn’t need another heart surgery just yet. But the day is coming when he will.
Three broken hearts
Kevin, Kyle and Kasey Massey were born nine weeks early, in April 1994. Their parents, Elaine and Keith Massey, were shocked months earlier to learn they’d be welcoming three babies into their family. It was the couple’s first pregnancy, and they had not undergone fertility treatments.
The boys’ arrival brought another surprise: all three had tetralogy of Fallot.
“We had no idea about their heart condition until after they were born,” Elaine says. “It was such a shock, we really didn’t know what to expect. We were told … it could be a possibility that none of them would come home.”
The severity of the condition can vary widely, says Bleiweis, the boys’ current heart surgeon. The Massey triplets are no exception.
Kasey, the oldest, has a milder case than his brothers. Middle brother Kevin’s condition is more severe. Kyle’s is the worst. He was born with a second condition, called pulmonary atresia, which left his pulmonary valve completely dysfunctional.
He “had his first shunt surgery when he was 35 days old,” Elaine Massey says. “He only weighed two pounds when they did surgery.”
Blalock-Taussig shunt surgery was once commonly used as a temporary solution until a child was strong enough to have a full repair.
“Shunt surgery is a way of providing extra blood to the lungs by connecting a small tube from one of the blood vessels coming off of the aorta to the pulmonary arteries,” Bleiweis explains. “In that way, you provide a secure source of blood flow to the lungs.”
Today, pediatric heart surgeons prefer to fix the heart within the first few months of a baby’s life, hopefully avoiding shunt surgery. Kasey and Kevin were almost 1 when they underwent shunt surgery.
The boys had full repairs of their hearts several years later: Kasey and Kevin in 1996, and Kyle in 1998. The surgeons removed their shunts, patched holes in the triplets’ hearts, repaired their pulmonary valves (Kyle received a new one) and enlarged their pulmonary arteries.
Each boy will need several valve replacements in his lifetime.
“Once you replace the valve, it will have to be replaced in the future, because it won’t grow,” Bleiweis says.
He says children who have an initial valve replacement before 3 will need another in about two to five years. Subsequent replacement valves should last a decade or two.
Replacements are necessary even after a child stops growing, because the body gradually attacks the donated or synthetic tissue used to fix the valve, causing it to wear over time. Deteriorated valves can cause abnormal heart rhythms and other serious problems.
The boys underwent valve surgeries again in 2006. Kyle had another in 2008.
The procedures take their toll on the boys, keeping each one home for six weeks after surgery. And, because only one triplet at a time has surgery, the boy undergoing the operation endures it and the time home from school without the company of his brothers.
Kevin says the operations are nerve-wracking.
“We get really nervous, because you don’t know if you’re going to come out of it or not,” he says. “I just go in and then pray I come out, and then, hopefully, I do.”
Dreams and limitations
Today, Kevin, Kasey and Kyle look like typical, energetic 17-year-olds. They wore roughed-up jeans, T-shirts and baseball caps to their latest checkup and teased each other mercilessly in deep Southern drawls.
At home in Georgia, their busy schedules don’t betray their faulty hearts. Kevin and Kyle play in the school marching band. They all participate in their church youth group. They’re already dreaming about their careers. Kevin plans to start an auto mechanic business. Kasey is considering his options. Kyle says he’s known since he was young that he wants to be a heart surgeon.
But their lives have been far from normal.
Elaine and Keith Massey spent most of their sons’ first year in the hospital as their children endured open-heart surgeries and battled a respiratory virus. Kyle stopped eating and had to be fed through a tube. Kasey required an oxygen tank after he left the hospital.
Their heart defects and lifetime of medical care have affected their growth, making these identical triplets different heights and weights. The brothers were developmentally delayed in early childhood, perhaps in part because of their prematurity and the amount of time they spent in hospitals. They have undergone speech therapy, as well as physical therapy to perfect fine motor skills. All three struggle with learning problems. Bleiweis says the causes of these difficulties are not fully known.
“It’s not clear whether children with congenital heart disease have intrinsic issues that may contribute to learning difficulties, or whether other factors before or around the time of the operations play a role,” he says.
Keith and Elaine, both teachers, work hard to keep their childrens’ spirits up.
“The kind of issues we’re dealing with now is to convince them they can do (it),” she says. “It just takes them longer. They may have to learn in a different way.”
Yet, some things are just too dangerous for the Massey boys to do.
“We can’t play contact sports — football or wrestling — because if we get hit, our chest might crack open,” Kevin says.
He and Kasey seem OK with this. They’ve enjoyed participating in other sports or in marching band. But Kyle wants to play football. The fact that he can’t, he says, makes him mad.
“Everybody at our school looks up to the football players and say they’re the best of the best,” Kyle says. “If you’re somebody, you’re going to be on the football team.”
‘You ain’t stopping us.’
Jim Beau Reinhardt isn’t even thinking about football yet. He recently started walking and talking, and the latest checkups on his heart and diaphragm showed no problems. Still, there are risks.
Several months ago, his parents rushed from their home in Georgia to Shands at UF because Jim Beau had been sick and vomiting bile for several days. Kays was concerned about an intestinal blockage that can develop in CDH patients.
“We thought maybe he had re-herniated or he had an obstruction,” Mary Abigail Reinhardt recalls. “It was just a virus. They got him an IV and he was immediately feeling better. But, it was kind of scary.”
For now, extra worry and the burden of future surgeries remain a part of life for children like Jim Beau and the Massey boys. But these children gain something else from their struggles. Kevin Massey says living with heart defects has given him a special strength.
“Most of the time, I know we can do more than they can,” he says, referring to his peers, “because we have the strength to do more. You ain’t stopping us. We’ve gone through a lot more than they have. Most of the kids ain’t been under a knife before.”