I was diagnosed at age 8 with the rare, genetic disease Familial Adenomatous Polyposis (FAP), which I inherited from my mother. FAP is caused by a mutation to the APC gene and causes 100s to 1000s of precancerous polyps to develop in the cancer. These polyps will turn cancerous if the colon is not removed in time. There are several extra colonic manifestations as well including bone growths, Desmoid tumors, supernumerary teeth and high risk of other GI cancers and other cancers throughout the body.
I had my first surgery to remove my colon at age 9 as my polyps were starting to turn cancerous. Originally, I was to have surgery to remove my colon and place a temporary ileostomy that would then be reversed in a second surgery to a Jpouch. However, I experienced life threatening complications resulting in 4 additional surgeries within the span of a year. Due to these complications, a part of my small intestine was also removed resulting in the development of another rare disease, Short Bowel Syndrome (SBS). SBS results due to the dysfunction or removal of intestine and causes malabsorption of nutrients as severe, chronic diarrhea is typical. Some individuals require a feeding tube and TPN in order to obtain maintain necessary nutrients and hydration.
I was able to have my ostomy reversed 6 years later. Unfortunately, I experienced life threatening complications again. After months of medical testing, it was discovered in my 7th exploratory surgery that adhesions had created a stricture around my small intestine. This stricture was causing me to have excessive diarrhea and vomiting on a daily basis therefore I wasn’t able to maintain my electrolytes, nutrition, or hydration levels. An ulcer developed in my small intestine due to the excessive diarrhea and eventually created a hole in my intestine. In order to allow the hole to heal itself, I was NPO for several weeks and received TPN for several months while completing 6 weeks of hyperbaric treatments.
It would take another 6 years after this surgery for my body to begin to stabilize itself. Within another 8 years, I began to experience severe and chronic abdominal pain and nausea that was worsened when eating. These issues were caused by adhesions, gallstones, and precancerous polyps in my gallbladder requiring my 8th surgery.
I continue to be monitored by several specialists to manage my FAP and SBS to not only treat symptoms but also monitor for the development of possible cancers associated with FAP. Due to my medical experiences, I enjoy advocating for FAP and SBS to raise awareness through my blog Life’s a Polyp and raising funds for NORD FAP Research Fund. I also am excited for my FAP children’s book to be published for Rare Disease Day 2022.
The management of rare disease and chronic illness is a lifelong commitment, it truly takes a Chronic Warrior.
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