Living with Lucey-Driscoll syndrome
A rare inherited liver condition in newborns that raises bilirubin and causes jaundice in the first days of life.
Understanding Lucey-Driscoll syndrome
It causes high bilirubin levels in the blood, making the baby's skin and eyes look yellow (jaundice) during the first few days of life. It usually goes away on its own. In some cases it can lead to kernicterus, brain damage from high bilirubin, with signs like being very tired, high-pitched crying, weak muscles, missing reflexes, vomiting, or seizures.
Signs & symptoms
GARD doesn't list a separate symptom list. Its summary describes these features:
- Yellow skin and eyes (jaundice)
- Very tired
- High-pitched crying
- Weak muscles
- Vomiting
- Seizures (if kernicterus develops)
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 UGT1A1 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
It is caused by changes in the UGT1A1 gene. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: hblrtfn; hyperbilirubinemia, familial transient neonatal; transient familial neonatal hyperbilirubinemia
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 Lucey-Driscoll syndrome.
Explore research for Lucey-Driscoll syndrome
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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