Living with Congenital diarrhea 5 with tufting enteropathy
A rare inherited condition with severe diarrhea starting in newborns because of changes in the lining of the intestine.
Understanding Congenital diarrhea 5 with tufting enteropathy
Diarrhea begins very early, is severe and hard to treat, and can lead to intestinal failure. Babies can become dehydrated and gain weight slowly. It starts in newborns and infants.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Chronic watery diarrhea
- Dehydration
- Slow weight gain (failure to thrive)
- Poor absorption of food
- Swollen belly
- Irritability
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.
- 3Consider genetic testing
Changes in EPCAM are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
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 the EPCAM gene are listed. It is autosomal recessive, so a child inherits a changed copy from each parent.
Also known as: congenital familial intractable diarrhea with epithelial or epithelium abnormalities; congenital familial intractable diarrhoea with epithelial or epithelium abnormalities; congenital tufting enteropathy; diar5; epcam secretory diarrhea; epcam secretory diarrhoea
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 Congenital diarrhea 5 with tufting enteropathy.
Explore research for Congenital diarrhea 5 with tufting enteropathy
Explore actively recruiting Congenital diarrhea 5 with tufting enteropathy studies with HealthSpark.
Find actively recruiting studies for Congenital diarrhea 5 with tufting enteropathy with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
- Share your city to look for research near you
- Eligibility is confirmed by the study team
Powered by HealthSpark, our AI chat helper
I can help you find recruiting Congenital diarrhea 5 with tufting enteropathy studies. Enter a ZIP code, address or city below and I'll look within 50 miles.
Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
Get Signals for Congenital diarrhea 5 with tufting enteropathy
Stay in the loop with community stories and updates from medical researchers.
Create a living journal that talks back
HealthStory evolves private journaling with a living AI journal that talks back and asks thoughtful questions, helping you capture your Congenital diarrhea 5 with tufting enteropathy experiences more deeply and prepare for better conversations with your doctors and care team.
Your journal is private. Sharing your story publicly is a separate choice, made with Share your story above.