For those of you that are new to the world of FAP, you must first understand the genetic disease.
Briefly, Familial Adenomatous Polyposis is a rare hereditary genetic mutation that predisposes an individual to colon cancer due to hundreds to thousands of precancerous polyps developing in the colon at an early age. Those with FAP develop significantly more polyps and at an earlier age than those without FAP. If the FAP polyps are not treated, the individual will inevitably develop colon cancer. Due to the dominant hereditary nature of FAP, the offspring of an affected individual has a 50% chance of inheriting FAP.
There are associated manifestations of FAP as well. These include:
- Congenital hypertrophy of retinal pigment epithelium (CHRPE)
- Osteomas, supernumerary teeth, odontomas
- Desmoids, epidermoid cysts
- Duodenal and other small bowel adenomas
- Gastric fundic gland polyps
- Brain tumors
- Increased Risk for Gastric Cancers and cancers of the Thyroid, Pancreas, Liver, Central Nervous System, and Bile Ducts
- Attenuated FAP is characterized by a significant risk for colon cancer but fewer colonic polyps (average of 30), more proximally located polyps, and diagnosis of colon cancer at a later age; management may be substantially different.
- Gardner syndrome is characterized by colonic polyposis typical of FAP together with osteomas and soft tissue tumors.
- Turcot syndrome is the association of colonic polyposis and central nervous system (CNS) tumors.
To learn more about Familial Adenomatous Polyposis visit these resources:
- Hereditary Colon Cancer Foundation Patient Guide to FAP
- National Organization for Rare Disorders FAP Report
- Medscape Familial Adenomatous Polyposis Report
Now that you have some understanding of FAP, may I introduce my history with FAP.
I was diagnosed with FAP around the age of 8. I first began to have severe stomach pains. My parents consulted my PCP and requested a referral to a GI specialist repeatedly. I was dismissed as a "whiny child" until my parents prevailed and I came under the care of a pediatrician GI specialist, whom after approximately 18 years, I continue to receive care from. I was pre-ulcerous due to stress and she uncovered family history of FAP and began monitoring my health for polyp development. I also had supernumerary teeth or extra teeth that appear in addition to regular teeth. I had about 6 extra teeth that had to be surgically removed. It was not until I was in college that my parents and I learned the extra teeth were associated with FAP.
At age 9, I underwent a total colectomy under the recommendations of specialists due to precancerous FAP polyps beginning to turn cancerous in order to prevent full development of colon cancer. The plan was to have a temporary ileostomy that would later be "taken down" after recovery ending with a jpouch. However, I suffered several surgery complications resulting in the removal of the majority of my small intestine and a permanent ileostomy. During the span of this year, I underwent 5 surgeries and experienced several near-death experiences.
At age 16, I came under the care of a different surgeon and with consultation of my GI specialist, I underwent a 6th surgery to take down the ileostomy and was given a straight pull-thru. The following year, my health unexpectedly began to rapidly decline and I again was not expected to live. After repeated, extensive testing I underwent my final surgery to remove excess scar tissue that was causing a stricture around my intestine. Over the next 5 years, I continued to struggle with my health with frequent hospitalizations and ongoing medical treatments to re-establish my health.
Currently, I am enjoying a reasonable level of health. I continue to experience very hard, trying days but my health has stabilized and I am able to pursue the majority of activities and goals with accommodations.
I hope you'll join me on this journey with FAP and will gain information, understanding, and support.