User:SibylleCreek601

This can be a subject that, unfortuitously, is extremely close to my heart. My grandmother, who practically raised me while my mom was out working, experienced Gaucher Disease before day she died. As a young person, I did not know what it was. My grandmother was a proud woman and didn't talk about it. I only knew because my mother explained. After she handed down and I got older, I decided I had to understand just what it was that took my grandmother. This article will give you the basic facts about what Gaucher Disease is and what treatments can be obtained.

The first thing that surprised me to find out was that Gaucher Disease is most typical among people who are either Jewish or from Eastern or Central Europe. From the Jewish home, it explained a lot to me. One more thing that I learned that also surprised, as well as scared me was that Gaucher Disease can be inherited, meaning it's passed on from your own parents. The chances of inheriting the condition decrease with each generation that the disease itself doesn't show up. In my family, it is now 3 generations since, so we're probably pretty safe at this point.

So what is Gaucher Disease? Well, it's a genetic mutation that effects organs such as the liver and spleen. The particular disease is caused by an enzyme deficiency that subsequently causes fatty substances to build up in these organs. Within my grandmother's case it had been in both her liver and her spleen. The condition causes an enlargement of these organs. This explains why my grandmother, who weighed all of 80 pounds, appeared as if she had a basketball in her stomach.

There are, unfortunately, additional symptoms besides an enlarged liver or spleen. Other symptoms include issues with blood clotting, easy bruising, fractures for no apparent reason, and even bleeding when brushing the teeth.

Detecting if someone has Gaucher Disease is really a simple matter. A blood test is all that is needed. The enzyme deficiency will show in the liver and spleen. There are actually three forms of Gaucher Disease, but type one is the most common and the type that my grandmother endured.

Luckily, we have come a considerable ways since the 60s, when my grandmother suffered from this infection until she passed away in 1974. Today, there are enzyme replacement therapies which are actually quite effective in treating Gaucher Disease. Also, a good diet, low in fats and meats, full of fruits and vegetable, will even aid in battle this illness.

Those who find themselves struggling with this illness can actually live a long time with it. My grandmother developed this infection very young in life and still lived to be 66 yrs. old.

If you or even a family member is experiencing Gaucher Disease, there was hope. Please visit your physician and ask him what treatments can be found in your area.