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Fri 5 May, 2006 09:01 pm
I'm highly distracted, but I wanted to get this thread started. My sweet, wonderful little 3.5 year old nephew has a smooth, wide fibroid tumor (benign) on his lower back between the muscle there and the skin. This type of tumor can indicate various cancers either current or future. Some devastating cancers.
I need to do research, and I will. My mother has done lots already and it's all very scary.
If anyone knows anything about Gardner's disease, benign fibroids, or anything helpful, I'd greatly appreciate any data. Thanks......
Oh how scary...! I know nothing about this but fervently hoping that the news, when it comes, is good.
Soz, thanks for the support.
They set him up with genetic testing, to see if he has the gene for Gardner's disease, but the date is not until late August! Crazy. My sister is trying to get him in earlier. Obviously.
Bugger, Lil k.
I know you can look stuff up, but I thought I might gather a bit here for you:
Gardner's Syndrome
Gardner's Syndrome is an inherited condition that leads to the formation of multiple polyps throughout the intestinal tract. There is no specific treatment for this disease other than surgery to prevent the development of cancer. Fortunately, Gardner's Syndrome is quite rare.
Polyps are growths that develop within the intestines. They are quite common and many people will have a few in the colon, especially as they get older. People with this disease, however, have many polyps (sometimes hundreds to thousands) and the polyps develop at an earlier age, usually by age 16. They may occur throughout their stomach, small intestine, and large intestine, and they have a high potential for becoming cancerous. There is no specific treatment other than close follow-up and surgery to prevent cancer. Any complications that may arise will need to be treated accordingly.
There are no specific symptoms.
If the polyps become very large, they may cause intestinal bleeding, Intussusception, or Intestinal Blockage. Otherwise, they may not cause any symptoms.
People with this disease also have a higher risk of developing dermoid tumors, abnormalities of the retina, skin tumors, and bone tumors.
The intestinal polyps usually appear by the early to mid teenage years. By age 35, almost all with this disease will have polyps.
Polyps in the colon will become cancerous in almost everyone with this disease by age 50.
Polyps are found in the stomach in over half of those affected with this disease. However, stomach polyps usually do not become cancerous.
Polyps are also found in the small intestine in over 90% of those with this disease, and tend to become cancerous in up to 10 to 15%.
This is an inherited disease (autosomal dominant inheritance). A gene known as the APC (adenomatous polyposis coli) is present in over 80% of those with this disease. It is believed that this genetic abnormality leads to the development of the numerous polyps. However, it is still not known what exactly causes the genetic abnormality.
Usually determined when multiple polyps are found during an endoscopy being done for other reasons.
The polyps may also be found during surgery for some unrelated problem, or because of a complication of the disease.
Polyps usually develop at a young age, often as early as the early teens. By 35, almost all individuals with this disease will have polyps.
This condition has a very strong pattern of inheritance. Close relatives of anyone with this disease should be tested for the presence of abnormal polyps. Though there is no treatment or cure at this time, close monitoring by a doctor may help prevent some of the complications.
Once a person is found to have the genetic abnormalities associated with this disease, he/she needs to be followed extremely closely. That person will need to have a Sigmoidoscopy starting at age 10, and repeat Sigmoidoscopy every 1 to 2 years.
Upper endoscopy should also be done (in people with the abnormal gene) to look for polyps in the stomach and small intestine. This needs to be started at the same time as the Sigmoidoscopy, and repeated every 1 to 3 years.
It is not known at the present time what the risk factors are, other than possessing the gene that causes the disease.
There is no specific treatment for this disease.
People with this disease have a very high risk of developing cancer. In fact, almost all with this disease will develop cancer by the time they turn 50.
Therefore, those with this disease need to be checked and screened very carefully and very often for any abnormalities.
Also, all persons with this condition will need to have the entire colon removed. This is a preventive measure done to prevent cancer. Depending on the type of surgery, sigmoidoscopies will be needed afterward to make sure no cancer develops in remaining parts of the intestine. This will be determined by one's primary care doctor and the surgeon who performed the surgery.
Periodic upper endoscopy is used to make sure that cancer does not develop in the stomach or intestine, and will need to be continued even after the colon is removed.
If the polyps become very large, they can cause Intestinal Blockage, Intussusception, or bleeding.
People with this disease are at a very high risk of developing cancer.
Seek medical attention as soon as possible.
Once the diagnosis is made, other family members should also be told to see their doctors and seek genetic testing and counseling.
There is no specific way to prevent this disease.
Cancers associated with this disease can be detected early through routine doctor visits.
This looks fairly thorough:
http://www.emedicine.com/DERM/topic163.htm
And this:
http://www.emedicine.com/ped/topic828.htm
Gardner's Syndrome is a disease that affects many parts of the body. The primary problems with Gardner's Syndrome are in the digestive system. Patients will have hundreds, sometimes thousands, of polyps throughout the large intestine before diagnosis. These polyps are dangerous and must be removed before they turn to cancer. The polyps are a particular type of polyp, called adenomas ... adenomatous polyps. The condition of multiple and recurring polyps is called polyposis.
Gardner's Syndrome has been linked to a genetic mutation and it can be inherited. Diseases that are found among family members are called familial diseases.
So ... it is a familial disease that includes adenomatous polyposis. That is where Gardner's Syndrome gets it's other name ... Familial Adenomatous Polyposis ... or "FAP".
FAP was first linked to extracolonic manifestations in 1923 by Nichols. Nichols noticed the association of FAP and desmoid tumors. Dr. Eldon Gardner, in 1951, discovered multiple symptoms among family members, in two different families. Recently, modern medical research techniques have allowed us to learn more about genetics and familial diseases.
Dr. Gardner described FAP with the extracolonic manifestations of intestinal polyposis, desmoids, osteomas, and epidermoid cysts.
A disease that is associated with the same set of multiple signs and symptoms among patients is called a syndrome. Gardner's Syndrome has a number of seemingly unrelated signs and symptoms that are found among FAP patients.
Some genes that are responsible for Gardner's Syndrome have been identified. We are now learning that there are variations of FAP and Gardner syndrome that are caused by other genes that have yet to be identified. In any case, these genes affect the growth cells in the body. It is believed that these genes are designed to prevent abnormal growths and cancer. But, apparently, some of these genes are not doing their job exactly right. A new growth that does not belong in the normal scheme of things is called a neoplasm. FAP patients can have abnormalilties outside of the large intestine, and even outside of the digestive system. These include skin cysts, osteomas, dental abnormalities, retinal spots, soft tissue tumors called desmoid tumors, gastric and duodenal polyps, benign skin tumors, benign adrenal and pancreatic tumors and other neoplasms of the brain, thyroid, bile duct and small intestine.
http://mywebpages.comcast.net/sanddude/snsgs101.htm
Thanks Deb, I just started looking. My sister is sort of in MathWoman mode. She's reporting what the docs have said, but not her emotions and only what they've said with any certainty. She weights the unknown heavily: we don't know that he has this gene. It doesn't run in his lineage. It could be unrelated and she sort of refuses to discuss the idea until she gets the genetic testing data back.
littlek wrote:Thanks Deb, I just started looking. My sister is sort of in MathWoman mode. She's reporting what the docs have said, but not her emotions and only what they've said with any certainty. She weights the unknown heavily: we don't know that he has this gene. It doesn't run in his lineage. It could be unrelated and she sort of refuses to discuss the idea until she gets the genetic testing data back.
Fair enough at this stage, and it seems the dangers begin a bit later than this, so a bit of delay in diagnosis might give some time for processing.
The genetics seem odd...it looks like the thing is expressed very rarely, so you may have had no evidence in your family before?
Ok, 'k, you're gonna need to start colonoscopy early if it IS this thing.
Littlek--
You and your nephew are in my thoughts.
I hope it all works out well. That's such a young age to have serious problems.
Yes, too eaerly to panic.
It's true Deb, if he tests positive we all have to start testing for colon polyps. First his parents and sister do, then maybe we do...... the mutation could start with him.....
Thanks for the support Edgar and Noddy. Nothing is in crisis right now, just a lot of waiting and wondering.
littlek wrote:Yes, too eaerly to panic.
It's true Deb, if he tests positive we all have to start testing for colon polyps. First his parents and sister do, then maybe we do...... the mutation could start with him.....
Thanks for the support Edgar and Noddy. Nothing is in crisis right now, just a lot of waiting and wondering.
Which sucks mightily.
((((((((((((((((((((((((((((((((((((k family)))))))))))))))))))))))))))))))))))))))
Didn't hear about this til today.
Hugs to the whole big B clan. There's just a bit too much stuff sometimes.
Mmmm..... his surgery (biopsy) has left him with a lumpy scar. Sometimes it makes me want to cry to look at it. So, I started a game, hey look at my scar! Look at Dasha's scar! Where's your scar, Colio? I duuno if he even knew it was there before this game. But, he likes the game and it makes me feel less bad when I see his little lumpy. (I believe the swelling will go away after a couple weeks).
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