Living with Fatal familial insomnia
A rare inherited brain condition affecting the thalamus, which controls sleep, causing serious sleep problems and other changes over time.
Understanding Fatal familial insomnia
The most common symptoms are trouble sleeping, psychiatric problems, weight loss, and balance problems. Other symptoms include high blood pressure, heavy sweating, and trouble controlling body temperature. Symptoms tend to get worse over time. It usually begins in adulthood.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Trouble falling or staying asleep (insomnia)
- Anxiety, depression, or hallucinations
- Poor balance and coordination (ataxia)
- Memory and thinking problems
- Heavy sweating and fast heart rate
- Sudden muscle jerks (myoclonus)
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.
- 3Consider genetic testing
Changes in PRNP 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
- 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 Creutzfeldt-Jakob Disease Foundation, Inc and other patient organizations
- 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
Almost all cases are caused by a specific change in the PRNP gene. It is autosomal dominant, which means one changed copy of the gene is enough.
Also known as: familial fatal insomnia; ffi; ffi - familial fatal insomnia
Patient organizations
- Creutzfeldt-Jakob Disease Foundation, IncFatal familial insomnia · United States
- Project SleepFatal familial insomnia · United States
You are more than your diagnosis
Perspectives from people navigating life with Fatal familial insomnia.
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