Sharon Gardner's Syndrome

My diagnosis on July of 1989 I was 20 years-old

Gardner syndrome, is an autosomal dominant form of polyposis characterized by the presence of multiple polyps in the colon together with tumors outside the colon. The extracolonic tumors may include osteomas of the skull, thyroid cancer, epidermoid cysts, fibromas and sebaceous cysts, as well as the occurrence of desmoid tumors in approximately 15% of affected individuals. The countless polyps in the colon predispose to the development of colon cancer; if the colon is not removed, the chance of colon cancer is considered to be very significant. Polyps may also grow in the stomach, duodenum, spleen, kidneys, liver, mesentery and small bowel. In a small number of cases, polyps have also appeared in the cerebellum. Cancers related to GS commonly appear in the thyroid, liver and kidneys.

At this time, there is no cure, and in its more advanced forms, it is considered a terminal diagnosis with a life expectancy of 35–45 years; treatments are surgery and palliative care, although some chemotherapy has been tried with limited success

Treatment

Ileoanal reservoir surgery or ileoanal anastomosis is a two-stage restorative procedure that removes a part of the colon and uses the ileum (a section of the small intestine) to form a new reservoir for waste that can be expelled through the anus. This surgery is one of several continent surgeries that rely upon a newly created pouch to replace the resected colon and retain the patient's sphincter for natural defecation. Ileoanal reservoir surgery is also called a J-pouch, endorectal pullthrough, or pelvic pouch procedure.

Purpose

A number of diseases require removal of the entire colon or parts of the colon. Proctolectomies (removal of the entire colon) are often performed to treat colon cancer. Another surgical option is the creation of an ileoanal pouch to serve as an internal waste reservoir—an alternative to the use of an external ostomy pouch. An ileoanal reservoir procedure is performed primarily on patients with ulcerative colitis, inflammatory bowel disease (IBD), familial polyposis, or Gardner Syndrome and (FAP), which is a relatively rare cancer that covers the colon with 100 or more polyps. Garnder syndrome and (FAP) is caused by a gene mutation on the long arm of human chromosome 5. Ileoanal reservoir surgery is recommended only in those patients who have not previously lost their rectum or anus.

Frequency

United States

One person per million population is diagnosed with Gardner syndrome. The incidence of FAP is 1 case per 8000 people. The most common cutaneous finding in patients with Gardner syndrome is epidermoid cysts (50-65%).

My Note

This was my first surgery done 21 years ago. I have under gone I believe 6 surgeries since then. I have a few other mayor medical problems that have come from having Gardner Syndrome too. Now I am facing two more surgeries a revision of my J-Pouch which we hope that my original surgeon Dr. John Rombeau at Temple Hospital is able to do. I am the first they know of that has come back with a J-Pouch that has ischmeic ulceration. That are bleeding so bad that I have needed two blood transfusion in Sept of 2010 and Jan of 2011. I also needed two iron infusions. My hopes were to try to find another way to fixing this without surgery however, it looks time has run out and I will need that J-Pouch revision. I have been unable to find any information on J-pouch revisions. My surgeon has only done 10 prior to mine. So it is very rare that this happens. I am the first they know of for a J-Pouch to bleed. So it looks like they will have to make a new pouch I will get a temp. ileostomy. In 2 to 3 months they will take it down and hook everything back up as long as I have enough small bowel. If I don't I will have a permanent ileostomy and that does scare me however, I will still have my life to be thankful for.

This was my first complication after a surgery. 

Diseases: Small Bowel: Dysmotility

In the normal small intestine, liquefied food and secretions including digestive enzymes are pushed onwards by waves of muscular contraction. When these contractions are impaired, the contents are trapped, and cause distention with symptoms such as bloating, nausea, vomiting and even malnutrition. There are many causes of abnormal intestinal motility. They can be divided into two major groups:

• abnormalities of the muscle of the intestine (myopathy)
• abnormalities in the neural (nerve) control of the muscle (neuropathy)This is what I have.

Second complication

Gastroparesis, also called delayed gastric emptying, is a medical condition consisting of a paresis (partial paralysis) of the stomach, resulting in food remaining in the stomach for a longer period of time than normal. Normally, the stomach contracts to move food down into the small intestine for digestion. The vagus nerve controls these contractions. Gastroparesis may occur when the vagus nerve is damaged and the muscles of the stomach and intestines do not work normally. Food then moves slowly or stops moving through the digestive tract

Final Note

There has been a lot of friends that haven't understand what is really medical wrong with me. I thought this would be the best way to explain it. It's a lot of medical terminology but it is accurate. This is only a few things that I deal with there are more I just touch on the major ones.