
Living with Esophageal atresia/tracheoesophageal fistula
A birth difference in which the food pipe (esophagus) is not formed normally and may connect to the windpipe.
Understanding Esophageal atresia/tracheoesophageal fistula
The esophagus carries food from the mouth to the stomach. In esophageal atresia, the upper esophagus does not connect to the lower part and stomach. Most babies also have a tracheoesophageal fistula, an abnormal link between the esophagus and windpipe. It usually shows up soon after birth, when saliva or milk may enter the airway.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Extra saliva
- Feeding difficulties in infancy
- Trouble swallowing (dysphagia)
- Vomiting
- Repeated breathing infections
- Poor weight gain
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include digestive system specialists and genetic specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Digestive system specialists (gastroenterologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in genes cause this condition. GARD says it arises when the esophagus and windpipe do not separate properly in early development. GARD does not name a specific gene.
Also known as: abnormal connection between trachea and esophagus; abnormal connection between trachea and oesophagus; esophageal atresia; esophageal atresia and/or tracheoesophageal fistula; tof - tracheoesophageal fistula; tracheoesophageal fistula
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Esophageal atresia/tracheoesophageal fistula.
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