October is Gaucher Disease Awareness Month!
The National Gaucher Foundation (NGF) has some wonderful resources that can come in handy for the Gaucher patient community.
Let’s take a look below!
What is Gaucher disease?
Gaucher disease is a lysosomal storage disorder in which the activity of the enzyme beta-glucocerebrosidase is incredibly low or non-existent. Beta-glucocerebrosidase is responsible for the breakdown of glucocerebroside, a lipid, into the simpler glucose and ceramide molecules.
If beta-glucocerebrosidase activity is too low (as in the case of Gaucher disease), then glucocerebroside levels accumulate in cells and cause damage to tissues and organs.
Though it is rare, the frequency is higher among those of Ashkenazi (Eastern European) Jewish descent. Among that population, approximately 1 in 450 people has Gaucher disease while 1 in 10 may be carriers of the disease.
To learn more about Gaucher disease, click here.
Calendar of Events
The NGF has a nifty calendar of events, thought-starters, and personal goals we can each accomplish to help spread the word or create awareness for the Gaucher community.
Get Screened
For those who are at a higher risk of Gaucher, it is important to get screened.
The NGF is working with JScreen to provide carrier screening for more than 100 different diseases, including Gaucher disease.
Click here to learn how you can get screened.
CARE Program
Thanks again to the NGF, assistance is available to patients with Gaucher disease who are US citizens residing in the US and can demonstrate extraordinary financial hardship in paying for eligible Gaucher-related expenses.
It doesn’t matter which drug your physician has prescribed, or whether you are currently on therapy.
To learn more about the CARE program and how to apply, click here.
