Living with Congenital isolated hyperinsulinism
A rare condition in which the body makes too much insulin, causing repeated, serious low blood sugar in babies and young children.
Understanding Congenital isolated hyperinsulinism
It is the most frequent cause of severe and lasting low blood sugar in newborns and early infancy. Too much insulin is released for the blood sugar level, causing repeated episodes of very low sugar that need fast, intensive treatment to prevent harm to the nervous system. There are two forms, one that responds to the drug diazoxide and one that does not.
Signs & symptoms
GARD doesn't list a separate symptom list for this condition. The summary describes:
- Repeated episodes of very low blood sugar
- Severe, lasting low blood sugar in newborns and infants
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 genetic specialists and hormone specialists.
- 3Ask which tests can help
Your care team will decide which exams and tests can confirm the diagnosis.
Care & treatment
- Care team
- Genetic specialists (geneticists); Hormone specialists (endocrinologists)
- 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 Congenital Hyperinsulinism International
- 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 cause this condition. It can be autosomal dominant or autosomal recessive.
Also known as: chi; phhi
Patient organizations
- Congenital Hyperinsulinism InternationalCongenital isolated hyperinsulinism · United States
You are more than your diagnosis
Perspectives from people navigating life with Congenital isolated hyperinsulinism.
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