利用者:BrauerLark428

It is a subject that, regrettably, is very near my heart. My grandmother, who practically raised me while my mom was out working, suffered from Gaucher Disease until the day she died. As a young person, I didn't know what it was. My grandmother was a proud woman and didn't speak about it. I only knew because my mother explained. After she passed on and I acquired older, I decided I had to know just what it had been that took my grandmother. This article will provide you with the essential facts about what Gaucher Disease is and what treatments can be obtained.

First thing that surprised me to discover was that Gaucher Disease is most common among people who are either Jewish or from Eastern or Central Europe. From the Jewish home, it explained a lot to me. Another thing that I learned that also amazed, and also scared me was that Gaucher Disease can be inherited, meaning it's passed on from your parents. The chances of inheriting the illness decrease with each generation that the disease it self doesn't show up. Within my family, it is now 3 generations since, so we're probably pretty safe now.

So what is Gaucher Disease? Well, it is a genetic mutation that effects organs like the liver and spleen. The specific disease is due to an enzyme deficiency that subsequently causes fatty substances to build up in these organs. In my own grandmother's case it was in both her liver and her spleen. The illness causes an enlargement of these organs. This explains why my grandmother, who weighed most of 80 pounds, looked like she had a basketball in her stomach.

You will find, regrettably, many more symptoms besides an enlarged liver or spleen. Other symptoms include problems with blood clotting, easy bruising, fractures for no apparent reason, and also bleeding when brushing one's teeth.

Detecting if some one has Gaucher Disease is 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 kinds of Gaucher Disease, but type one is the most common and the type that my grandmother experienced.

Fortuitously, we now have come a long way since the 60s, when my grandmother experienced this illness until she died in 1974. Today, you will find enzyme replacement therapies which are actually quite effective in treating Gaucher Disease. Also, a good diet, low in fatty foods and meats, high in fruits and vegetable, will also aid in battle this disease.

Those who are experiencing this illness can in fact live quite a while with it. My grandmother developed this disease very young in life whilst still being lived to be 66 years old.

In the event that you or a family member is experiencing Gaucher Disease, there's hope. Please visit your physician and ask him what treatments are available in your neighborhood.