Living with Gaucher disease type II
A severe form of Gaucher disease that starts in infancy and affects the brain, along with the liver and spleen.
Understanding Gaucher disease type II
The fatty substance glucocerebroside builds up in the spleen, liver, lungs, bone marrow, and brain. Symptoms usually start by 3 months of age. They include brain damage, seizures, abnormal eye movements, poor ability to suck and swallow, and an enlarged liver and spleen.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Seizures
- Abnormal eye movements, such as crossed eyes
- Poor sucking and swallowing
- Enlarged liver and spleen
- Low muscle tone and muscle spasms
- Breathing difficulties
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, eye disease specialists, genetic specialists and lung and breathing specialists.
- 3Consider genetic testing
Changes in GBA1 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
- 4Connect with expert centers
National Gaucher Foundation (NGF) and Epilepsy Foundation may keep lists of experts for this condition.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists); Lung and breathing specialists (pulmonologists)
- Expert care
- Expert lists: National Gaucher Foundation (NGF), Epilepsy Foundation
- 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 National Gaucher Foundation (NGF) 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
Changes in the GBA gene cause this condition. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: acute cerebral gaucher's disease; acute neuronopathic gaucher disease; acute neuronopathic gaucher's disease; cerebral acute gaucher disease; gaucher disease type 2; gaucher disease type 2 (acute)
Patient organizations
- National Gaucher Foundation (NGF)Gaucher disease type II · United States
- Epilepsy FoundationEpilepsy · United States
You are more than your diagnosis
Perspectives from people navigating life with Gaucher disease type II.
Explore research for Gaucher disease type II
Explore actively recruiting Gaucher disease type II studies with HealthSpark.
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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