What if you were born with an enzyme efficiency that prevented your body from breaking down lipids?
Then you are probably one in 50,000 people who has Gaucher disease.
And you probably know that getting diagnosed correctly took a lot of effort.
You may have exhibited symptoms such as an enlarged spleen or liver, delayed growth, and low blood platelets, which may have pointed your doctor in a completely different (and wrong) direction.
For some people with Gaucher, the symptoms show up during their childhoods, while others sail into adulthood symptom-free. This demonstrates how differently Gaucher can vary from patient to patient.
In the past, patients were treated to alleviate the symptoms; but today, there are treatments in the form of enzyme-replacement therapy and substrate reduction therapy that allow people to lead fairly normal lives. If you would like more information on Gaucher, contact the National Gaucher Disease Foundation.
To learn more about this disease from a first-person perspective, please watch the video below.
