Living with Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
A rare condition present from birth in which the pancreas makes too much insulin, causing repeated low blood sugar.
Understanding Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
It causes repeated episodes of low blood sugar that do not respond to the drug diazoxide. Effects vary. Some people have no symptoms and the low blood sugar is found on routine tests. Others are born large for their age, have a mildly to moderately enlarged liver, or have severe low blood sugar leading to coma or long seizures. GARD lists onset in the newborn or infant period.
Signs & symptoms
GARD doesn't list a symptom list. Its summary describes these features:
- Repeated low blood sugar
- Large size at birth (macrosomia)
- Enlarged liver
- Seizures or coma from low blood sugar
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.
- 3Consider genetic testing
Changes in KCNJ11 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
- 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
Changes in the KCNJ11 gene cause this condition. It is autosomal recessive, so a child inherits a changed copy of the gene from each parent.
Also known as: hyperinsulinemic hypoglycemia due to kir6.2 deficiency, diazoxide-resistant focal form
Patient organizations
- Congenital Hyperinsulinism InternationalDiazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency · United States
You are more than your diagnosis
Perspectives from people navigating life with Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency.
Explore research for Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
Explore actively recruiting Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency studies with HealthSpark.
Find actively recruiting studies for Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency 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 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency 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 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
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 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency 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.