The evaluation for congenital diarrheal disorders can involve a number of special tests including blood and stool tests. Other important tests that can help with diagnosis are analysis of intestinal biopsies taken by endoscopy and DNA sequencing.
The severity and medical complications vary depending on the disorder, but also the specific gene mutation that causes the disease. Currently there is little specific information about outcomes and prognosis in most CODE disorders. The PediCODE consortium is therefore actively gathering clinical information to try and answer this question.
How CODE disorders are treated depends on the specific disorder. In most cases, infants and children will require fluid and nutritional support so they can grow. This includes a form of intravenous (parenteral nutrition) support that includes fluid, electrolytes, minerals and vitamins that is delivered via a type of long-term intravenous access. Some disorders can be supported using specialized diets or formulas. For many disorders there are no treatments that change or ‘cure’ the disease, and some conditions may progress and require an intestinal transplantation. One of the goals of the PediCODE consortium is to try and develop new ways of managing and treating CODE disorders.
The length of time your child will need parenteral nutrition depends on the underlying CODE disorder that is keeping his or her intestines from working. We try to reduce the amount of intravenous nutrition as much as possible as a child grows, but this can be limited by gastrointestinal symptoms and disease. If necessary, many children can safely stay on parenteral nutrition for a long time.
Most gastroenterologists manage home intravenous (parenteral) nutrition in consultation with a dietitian. There are also dedicated centers across the country that specialize in intestinal rehabilitation, as a result of rare bowel conditions, that manage patients with home parenteral nutrition needs.
Our goal is for children with these rare intestinal disorders to be safe, with emphasis on their quality of life. Parents are educated on how to manage home parenteral nutrition with the goal of safely transitioning home. Care for your child will include follow up with your doctors and may include the assistance of a home nurse. Patients who receive parenteral nutrition and have a CODE diagnosis can attend school and/or daycare.
Our knowledge and care for patients who are on parenteral nutrition has greatly improved over time as we have learned about potential complications. We have many patient supported on parenteral nutrition transitioning into adulthood for various medical conditions. Some potential complications includes liver damage, risk of infections (intravenous line infections), and vascular access. To reduce the risk of complications, follow up visits with your gastroenterologist will focus on the components of your nutrition, growth, but also in reducing your child’s risk for complications.
Research teams are working on all aspects of CODE disorders including understanding the underlying biology as well as trying to develop new treatments. The PediCODE consortium is currently recruiting patients with known or high suspicion for a CODE diagnosis in an effort to gather clinical data, samples for research in order to try to help children with these disorders.