GI Distress — Diverse Manifestations

by Lynn P. Audette, M.S.W., and Bruce Cleinman, M.A., Family Service Coordinators

(View this article in PDF format.)

GI problems are among the most common and troublesome issues we discuss with parents on a daily basis within the Foundation. Surprisingly, the cause of much GI distress turns out to be reflux related. In our experiences with families, it has become increasingly evident that among the most vital evaluations that a child can have are those to detect whether or not reflux is an existing condition. Reflux is a hallmark of CdLS. Up to 85% of individuals with CdLS experience some period of reflux in their lifetimes (most commonly in infancy or beginning of adolescence). Gastro-intestinal (GI) issues have diverse manifestations as the Abbotts and Smisloffs illustrate.

Jan and Jim Abbott wrote to the Foundation describing their experiences with their son, Gregg, who is 38 years old and moderately affected with the syndrome.

“Initially, he had difficulty eating but the reflux symptoms disappeared at about 2 years of age. He enjoyed a healthy childhood, had an excellent appetite, and a happy disposition. His only surgery was a bilateral inguinal hernia operation at the age of 13.

Two years ago, acting on the Foundation’s recommendation, we requested that Gregg be checked for silent reflux as it is a common disorder for people with CdLS. He had no behavior problems and did not appear to have reflux symptoms but he was having a lot of dental problems. An endoscopy indicated significant esophageal damage and a bacterial stomach infection. Gregg now takes Nexium one hour prior to his evening meal each day and has a yearly endoscopy. His doctor takes throat biopsies and monitors the condition. Periodically, Gregg has required antibiotics for the stomach infection. We urge all parents of children with CdLS to have their children examined for reflux even if they appear healthy and have no apparent digestive symptoms. Gregg’s dental problems and esophageal damage might have been avoided with earlier detection.”

Beth Smisloff, mom to Will (age 12) felt it important to share her family’s experience in hopes of raising awareness about pancreatitis, a much less common GI condition that has affected other people with CdLS.

“Will became ill in April exhibiting signs of lethargy, pain, and self-injurious behavior which led us to believe he may have a bowel obstruction. X-rays and a CT scan performed in the Emergency Room (ER) were negative and Will was sent home with a diagnosis of constipation. When his condition did not improve overnight, we contacted his doctor again. He called the ER and asked them to reread the results. We were told to report back to the ER immediately, as they had found something previously undetected — possible bowel obstruction. Will was then admitted to the Pediatric Intensive Care Unit where 24 hours later blood tests, which checked the pancreatic enzymes, revealed that he had pancreatitis. During his one-week stay, Will was treated for pain management and was off food intake entirely, giving his pancreas a chance to rest. When he was discharged from the hospital, he had improved but was still not back to 100%.

We were told pancreatitis typically resolves within a week but Will’s symptoms and discomfort continued for the next few weeks. Repeat CT scans were found to be abnormal. We pressed to have him admitted to Boston Children’s Hospital where there were pancreatic specialists. A two-week stay and thorough testing revealed that he indeed had smoldering pancreatitis.

He was discharged and under treatment for his pancreas (a j-g tube was placed for 24 hour continual feeds which allowed his pancreas to further rest) and yet he continued to act as if he did not feel well. Behaviorally, he was out of control with massive head banging and hand biting. He was miserable most of the day, nearly every day. We were feeling at the end of our rope wondering if there was some other physical explanation at the root of the problem or if he was starting with adolescent behavior problems. We were just steps away from trying medication to address behavior or looking into residential placement.

In August, an endoscopy performed during a final trip to Boston Children’s revealed an extensive yeast infection in his esophagus caused by a stricture at his fundoplication site. Tests also revealed that his pancreas was back to normal. Finally we had answers to the cause of his behavior problems. Four weeks after treatment of the yeast infection [with Diflucan after initially being unsuccessful with oral Nystatin] we finally had our old Will back. He was singing, twirling, laughing, and smiling again. There was no head banging or hand biting.

The CdLS Foundation message I always think of is ‘make sure there are no medical explanations for behavioral differences.’ In this case we persisted and didn’t take ‘no’ for an answer until we were certain we had gotten to the root of the problem. It takes patience, persistence, and sometimes the boldness to be a strong voice in the ears of the medical community, but these are imperative characteristics we must adopt in order to provide for the health and well being of our children. It was a long and difficult five months for Will and our family, and it highlighted our feelings that some physicians don’t always look to the gray areas because they are so used to going by the book. Our children don’t always get sick ‘by the book’ and that needs to be stressed.”

If undetected, GI issues can affect many other systems (behavior, dental, ear, and sinus). We are thankful to the Abbotts for once again reinforcing the message that all individuals with CdLS need to be evaluated for reflux and are grateful to the Smisloffs for broadening our perspective on additional GI conditions. We encourage you to contact us with your questions as we can provide extensive materials, information, and facilitate consultation with the GI specialists on our Clinical Advisory Board.