Common Colorectal Conditions: Diagnosis, Treatment and Long-term Care
Most colorectal conditions are a result of differences that occur during development before a baby is born. Some of the most common colorectal conditions include: anorectal malformation/ imperforate anus, Hirschsprung disease, cloaca and severe functional constipation/colonic dysmotility. Anorectal malformation, when the child’s anal opening and the rectum do not exit through the sphincter complex while Hirschsprung disease causes blockage of the intestine based on lack of nerves in the bowel. Both of these developmental issues impacts 1 in 5,000 babies. Cloaca, a malformation in females where the rectum, vagina, and urinary tract are fused together, creating a single common channel, which affects 1 in 50,000 girls.
Children’s Mercy is home to one of a very few comprehensive colorectal centers in the nation. We spoke with Dr. Rebecca Rentea, director of the Comprehensive Colorectal Center, and Dr. John Rosen, gastroenterologist, about the importance of patients having a long-term, comprehensive care plan to achieve the best outcome.
What can parents expect after learning their child has a colorectal condition?
Dr. Rentea: A colorectal disorder diagnosis can be a great source of stress for patients and families. While a Cloacal malformation can in certain situations, be diagnosed prenatally, other conditions aren’t discovered until after an infant is born. For many parents, diagnosis such as imperforate anus and Hirschsprung disease are surprise diagnoses, which can be scary, devastating and overwhelming.
Most children will undergo surgery in the first few days of life to provide some type of stability, but it’s only a temporary fix. Additional surgeries may be needed throughout childhood and there are also other associated anomalies that may not be life-threatening or prominently featured at birth, but still need to be addressed.
Upon inpatient diagnosis, families will meet the entire care team, which includes a pediatric, fellowship-trained colorectal surgeon, gastroenterologist, urologists, gynecologists, psychologist, clinic coordinator and nurse practitioner. Together we build a long-term follow up plan for the patient and determine a plan that will best benefit the child.
Why is a team-based approach important for patients?
Dr. Rentea: The team-based approach is really important because colorectal conditions are associated with several different systems of the body. We engage families early because we want to provide one place where they can get the diagnosis, treatment, management and support of care throughout childhood.
Dr. Rosen: While a newborn predominately has surgical issues in the first few weeks of life and wouldn’t necessarily need a GI specialist, the entire team is part of the care plan from the beginning. We get to know the child and the family, so as the child gets older and more medical and psychosocial issues arise we can address those issues early on. We’re not meeting the child for the first time at 12 or 13 years old. We already know the child’s medical history and have been part of the shared plan.
As specialists, we also bring different perspectives to the table. Diseases affecting the colon can also affect the entire intestine. Kids may have trouble swallowing, with stomach emptying, and with nutrition. A GI doctor can help identify and treat these problems in the context of their primary surgical disorder. It’s not just surgical intervention the child needs, but an entire holistic view of the child’s overall health.
What are some of the other hurdles these kids face later on in life?
Dr. Rentea: One of the first milestone a family faces with their child is toilet training. The other potential hurdles are around puberty, sexual development and childbearing age. For instance, parents may wonder if their daughter born with a cloaca anomaly or without a vagina can give birth to her own child in the future. These are issues that we can provide information that we can discuss early on when meeting families and revisit again as we hit different developmental milestones. We provide support to patients and families at all times throughout their journey.
Dr. Rosen: Another great support system we have is a pediatric psychologist dedicated to the center to help patients and families deal with issues associated with medical disease, such as the stressors of surgical healing or going through adolescence.
There’s three prongs to treating colorectal conditions. You have surgical management, medical management and there's always a behavioral component of the management, and the psychologist is able to help families get from point A to point B.
Dr. Rentea: Our philosophy is these are real medical issues and not "emotional" problems. It's a whole new light when parents know they’re supported by an entire team’s expertise.
What are the other benefits of having a comprehensive colorectal center?
Dr. Rosen: Kids with complex colorectal conditions can be treated, but they’re not cured and will need long-term care. When patients visit us in the clinic they’ll see 5-6 providers in one day, so it saves families from making multiple trips to the hospital.
Dr. Rentea: We take great efforts to arrange imaging, tests, and labs to coordinate with scheduled clinic appointments. This allows all providers to go through the child’s entire medical history before that child arrives, so we can offer the best care. It really speaks volumes to the amount of work that is being done and our families leave the appointments with a real assessment and plan.
Whenever possible, we provide all surgical procedures necessary in one surgery. This reduces the risk of complication, recovery time and improves overall quality of life.
What new cutting-edge technology is available to help kids with colorectal conditions?
Dr. Rosen: We’re one of only a few centers that performs colonic motility testing to determine how the colon is or isn’t working. The test works by placing a tube with tiny holes in the colon and pushing water through the tube at a constant rate. When the colon pushes back on the water it sends a wave down the tube, which gets converted to a digital signal. Those digital patterns indicates to us if the colon is squeezing, the strength of the squeeze, and if the squeezes are disordered or going the wrong direction.
While colonic motility testing doesn’t fix the problem, it does tell us more about prognosis and what to expect. Having this information available is a huge asset, and helps us determine if medications are being maximized and/or what type of procedure could be performed to help the child’s colon.
Dr. Rentea: Understanding the latest evidence and management of patients with complex colorectal conditions is important. While the diagnosis may not have changed, the management and surgical decision making has come a long way! Additionally, more research in understanding the outcomes and quality of life of children who have undergone surgical procedures is more important than ever in making decisions for care.
What do you want families to know about complex colorectal conditions?
Dr. Rosen: We know pooping issues can be stressful for kids and families, but new technology, medication and surgical techniques can help make things better.
Dr. Rentea: A child is not going to feel optimally engaged in life if there is anything physiologically or anatomically wrong, so when you identify the issue, validate the issue and do something about it – that’s incredible. My passion has always been pediatrics and I feel grateful to be part of the care for these children and we’re really here to help provide a road map to life.
Children’s Mercy is home to one of a very few comprehensive colorectal centers in the nation. Learn more about Colorectal Treatment at Children’s Mercy.