Saturday, September 22, 2007

How you doin..?

Up to this point of my life I feel that I'm so damn lucky to stay alive.
My treatment does good thing for me. What I still can't believe is just too good to be true.
Anyway.. I was just a bit bored in the office. Not bored to be exact, but my runny nose kept me from doing things and all I've been doing since the morning was actually listening to my iPod and read through some articles about the disease that I'm having now.

Remember that at the beginning (if you really pay attention to my blog that is) my brother was saying something about hereditary disease? Familial Adenomatous Polyposis (FAP)? Yeah, it's still colon cancer but the FAP one..
Now I just found this articles from Cancer Consultants. Hope it gives you (or whoever who has the same disease like me) clearer view of what's going on..

Familial adenomatous polyposis (FAP)

Familial adenomatous polyposis (FAP) is a rare genetic syndrome that causes hundreds of adenomatous polyps to form in the colon or rectum. Most cases of FAP are the result of mutations of the APC gene. Individuals who inherit an APC mutation are at a high risk of developing colonic adenomas and eventually colorectal cancer. Studies show that 90% of people with FAP will develop adenomas and without interventions, most people with this syndrome will develop colorectal cancer. Attenuated FAP (AFAP) is a genetic syndrome similar to FAP in which fewer than 100 polyps develop in the colon or rectum. Individuals with AFAP often have family members who have FAP. AFAP is equally as rare as FAP.

Most cases of FAP and some cases of AFAP are the result of mutations of the APC gene. Individuals who inherit an APC mutation are at a high risk for developing polyps and eventually colorectal cancer. Nearly 100% of individuals who are APC gene mutation-positive will develop colon adenomas. APC gene testing is now commercially available and the results, whether positive or negative, can assist individuals in their choices regarding future medical care.

Individuals at risk for FAP and AFAP can benefit from presymptomatic genetic testing. Both positive and negative test results can impact future medical choices and the frequency of screening procedures. A positive test result indicates that an individual has a known mutation that causes FAP or AFAP. Nearly 100% of individuals with this mutation will develop adenomas; therefore, those who test positive may use this information to increase the frequency of their screening procedures. A negative test result does not necessarily indicate freedom from risk. Individuals with negative test results may not need to undergo screening as frequently as those who test positive; however, these individuals need to be aware that they could still develop colorectal cancer, as the majority of cases are not the result of genetic conditions.

More significant than the test results is the course of action that follows. Again, the main reason for undergoing predictive genetic testing is the potential opportunity to take preventive measures against developing colorectal cancer. Many individuals who know that they are at an increased risk of developing colorectal cancer can choose to be proactive in their health maintenance and their utilization of screening procedures for early detection. While they may not always be able to prevent cancer from developing, they may be able to catch it early when it is most treatable.

Individuals with FAP and AFAP need to undergo frequent screening for polyps by sigmoidoscopy, or colonoscopy. Usually, screening in individuals with FAP or AFAP begins in the early teens. Historically once an individual with FAP or AFAP manifested polyposis, the only effective management strategy was colectomy (removal of the colon). In 2000, the Food and Drug Administration approved Celecoxib, previously approved for the treatment of individuals with arthritis, to be used in conjunction with the usual therapy for individuals with FAP. Celecoxib has been reported to reduce the number of colon polyps that develop in individuals with FAP, thus significantly reducing their risk for developing colorectal cancer. Patients should be seen in a medical center by an expert in FAP and AFAP to best understand their options.

Sphere: Related Content

No comments: