Living with Chronic bilirubin encephalopathy
A rare nervous system condition caused by high bilirubin levels in a newborn, leading to movement, hearing, and eye problems.
Understanding Chronic bilirubin encephalopathy
Bilirubin affects parts of the brain such as the globus pallidus and subthalamic nuclei. Symptoms begin after the acute phase in the first year of life and change slowly over several years. They include mild to severe movement problems (dystonia and athetosis), hearing nerve problems (auditory neuropathy spectrum disorder), and eye movement and dental differences.
Signs & symptoms
Symptoms vary from person to person. GARD's summary describes these features:
- Involuntary twisting movements (dystonia)
- Slow writhing movements (athetosis)
- Hearing nerve problems
- Eye movement differences
- Dental differences
- Cerebral palsy
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 brain and nervous 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
- Brain and nervous system specialists (neurologists); 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
GARD says it comes from exposure to high levels of unconjugated bilirubin in the newborn period, which affects parts of the brain.
Also known as: bilirubin-induced neurological dysfunction; bind; bind - bilirubin-induced neurological dysfunction; cbe; kernicterus spectrum disorder; ksd
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 Chronic bilirubin encephalopathy.
Explore research for Chronic bilirubin encephalopathy
Explore actively recruiting Chronic bilirubin encephalopathy studies with HealthSpark.
Find actively recruiting studies for Chronic bilirubin encephalopathy 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
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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