At Work
Patients with Gaucher disease and/or their families may find themselves struggling to meet the demands of the workplace or school while still giving themselves or their family member the care and attention they need. Patients and caretakers may need to take time off for medical appointments or treatment. Fortunately, there are programs that can help.
Some companies have employee assistance programs that can connect employees to a qualified professional who can help parents deal with the stress of having a child who is ill, and direct them to other services that can help, such as respite care. Patient advocacy groups may be able to connect you to other families who have experienced similar problems and who can provide helpful information [see Patient advocacy groups in the Resources and support section of this website].
Some individuals with less severe forms of Gaucher may do well at a variety of different jobs. A career counselor can help these patients explore a type of work they might enjoy and that is well suited to their individual strengths and interests. Patient advocacy groups may be a good source of information about disability and employment laws [see Patient advocacy groups in the Resources and support section].
Diagnosis and Testing
Doctors diagnose Gaucher disease by using a simple blood test called an enzyme assay. The assay for Gaucher disease measures activity levels of the enzyme glucocerebrosidase in white blood cells or skin cells. Individuals who are affected with Gaucher disease will have very low levels of enzyme activity. However, the assay cannot determine disease severity. Learn more in Diagnosing and Testing »
Gaucher Registry
For more than a decade, the Gaucher Registry has been a global resource to the medical and patient communities, helping to improve outcomes in patients with Gaucher disease. Learn more about participating in the Gaucher Registry »