Living with Isolated tracheo-esophageal fistula
A rare condition in which an abnormal tube connects the food pipe and windpipe, causing coughing or choking with feeding.
Understanding Isolated tracheo-esophageal fistula
It occurs without a blocked esophagus (esophageal atresia). It is usually diagnosed in the first few years of life. Early signs include coughing, choking, or a bluish look to the skin or lips during feeding. Some people have mild breathing trouble or repeated pneumonia. Heart defects can sometimes occur with it.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Choking episodes
- Feeding difficulties in infancy
- Repeated coughing spasms
- Repeated pneumonia
- Bluish skin or lips during feeding (less common)
- Acid reflux (less common)
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, genetic specialists and lung and breathing 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); Lung and breathing specialists (pulmonologists)
- 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
GARD says changes in genes (also called variants) cause this condition. It does not name specific genes or describe inheritance.
Also known as: h-type tracheoesophageal fistula; isolated tracheoesophageal fistula; tracheo-esophageal 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 Isolated tracheo-esophageal fistula.
Explore research for Isolated tracheo-esophageal fistula
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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