Unlike Gaucher disease type 1, Gaucher disease types 2 and 3 have early onset brain involvement that gets worse over time. For this reason, Gaucher disease types 2 and 3 are known as neuronopathic Gaucher disease. Currently, there is no effective treatment for the severe brain involvement associated with Gaucher disease types 2 and 3.
Gaucher Disease Type 2
Gaucher disease type 2 (also called acute infantile neuronopathic Gaucher disease) has the earliest onset of all Gaucher disease types. Symptoms first become apparent within the first 3 to 6 months of life. It is fatal, usually causing death before 2 years of age.
Gaucher disease type 2 signs and symptoms include early onset brain damage that is severe and rapidly worsening. Other signs include:
- Poor development
- Seizures
- Spasticity (jerking movements)
- Poor ability to suck and swallow
- Enlarged liver and spleen
Due to their shortened lifespan, babies with Gaucher disease type 2 do not survive long enough to develop other typical Gaucher disease symptoms like bone involvement. Some can be stillborn or have severe skin abnormalities.
Gaucher Disease Type 3
Gaucher disease type 3 (also known as chronic neuronopathic Gaucher disease) may be the most common type worldwide. It is more common than type 1 in the Middle East, India, China and the Pacific Rim.
Gaucher disease type 3 has a later and more gradual onset compared with type 2. People with Gaucher type 3 disease may survive into adulthood with a wide variety of signs and symptoms.
Major signs include:
- Seizures
- Skeletal irregularities
- Eye movement disorders
- Cognitive problems
- Poor coordination
- Enlarged liver and spleen
- Respiratory problems
- Blood disorders
Treatment for Gaucher Disease Types 2 and 3
There is currently no effective treatment for Gaucher disease type 2. Patients with Gaucher disease type 3 can receive enzyme replacement therapy (ERT) to address symptoms not involving the brain, like organ enlargement and bone issues.
ERT works well to control complications that most commonly occur in patients with Gaucher disease type 1. However, the replacement enzyme does not cross the “blood-brain” barrier, which acts to protect the brain but also filters out medications. Therefore, enzyme replacement has little to no effect on the severe brain involvement associated with Gaucher disease types 2 and 3.
Learn more about enzyme replacement therapy for Gaucher disease and other Gaucher disease treatment options.
Gaucher Disease Types 2 and 3 Resources
Support and practical suggestions from other patients and families can be extremely helpful in navigating challenges related to Gaucher care. Below are a couple of resources that offer support from other families who share the experiences of caring for children with type 2/3 Gaucher disease. Find more resources to help you connect with others as well as to build a care team and advocacy organizations that can help.
There is a closed Facebook group for families of children with type 2/3 Gaucher’s Disease from all over the world. Post photos, ask questions, share stories and memories. This group provides support for families of children diagnosed with Neuronopathic Gaucher disease type 2/3. Find them on Facebook and request to join.
Courageous Parents Network is a destination created by families, for families, to support and strengthen them as they care for very sick children. Here you will find wisdom and stories from fellow parents who understand, as well as resources developed by experts to help you cope and get through each moment.
Fetal Therapy Clinical Trial for Gaucher Disease Types 2 and 3
University of California, San Francisco (UCSF) pediatric surgeon and researcher Dr. Tippi MacKenzie is the lead investigator in a fetal therapy clinical trial, which involves giving medication to a fetus within the woman’s uterus. Fetal therapy is not a new technique, but the UCSF trial is the first time anyone has used it to deliver enzymes.
The National Institutes of Health is sponsoring the clinical trial, and anyone who is eligible can apply.
“All medical costs for the procedure are covered, and so are travel costs,” says Dr. MacKenzie. “We’re treating all trial participants here at UCSF, so we know we can offer the best care and have the most experienced team involved.”
For more information on the trial, click here.
