Living with Neutropenia, lethal congenital, with eosinophilia
A rare, serious condition in newborns involving repeated infections and unusual white blood cell counts.
Understanding Neutropenia, lethal congenital, with eosinophilia
This condition affects newborns. It is marked by repeated infections, no neutrophils, and a higher than normal number of eosinophils. Neutrophils and eosinophils are both white blood cells that help the body fight infections.
Signs & symptoms
GARD doesn't list specific symptoms for this condition yet. Based on its summary, the main features are:
- Repeated infections
- No neutrophils (a type of white blood cell)
- More eosinophils than normal (another white blood cell)
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
Your doctor may refer you to a specialist who knows rare conditions.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- A doctor familiar with rare conditions, plus specialists as needed
- 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 doesn't describe a cause for this condition yet. It is inherited in an autosomal recessive way, meaning a child inherits a changed copy of the gene from each parent.
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 Neutropenia, lethal congenital, with eosinophilia.
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