When you or a loved one just receive a diagnosis of Gaucher disease (GD) it’s only natural to feel distressed, concerned, and worried about the future.
Undoubtedly, you have many questions about this inherited rare disease.
While there is no cure, once you know which kind of GD you have, you can have further discussions with you doctor about a potential treatment plan and how best to manage the many symptoms that come with this disease such as bruising and weakened bones.
The Basics of Gaucher Disease:
GD pertains to the way the body breaks down and absorbs a particular type of fat because the body lacks a certain enzyme. As a result, fatty deposits continue to grow and accumulate in various organs such as the spleen, liver, and bone marrow, which can become life-threatening.
There are three basic types of GD. Type l is most common (treatments are available) with symptoms that could be severe, moderate, or mild; some people with the mild form often report not really noticing any symptoms.
Type ll and lll GD are, unfortunately, even more concerning because GD targets the central nervous system – the spinal cord and brain. Typically, when infants experience this type of the disease, its so acute that they rarely live beyond the age of two. It’s Type lll that can seem mysterious because the symptoms don’t present until years later in the child’s life.
People with GD tend to have bellies that are swollen, they bruise and bleed easily. They may become anemic because their blood doesn’t clot properly. It commonly affects the bones, causing loss of minerals and pain; bones can easily break.
So if you or your loved one are experiencing some or many of these symptoms, it’s critical for you to seek care from a healthcare professional, to ask for diagnostic tests—specifically for Gaucher disease.
Demand diagnostic tests from your doctor.
Find support and know that you are not alone.
And remember: Those of us at Patient Worthy are behind you because YOU ARE WORTHY!