Rare Disease Day is 2/29/2016 and this is a very special day for far too many individuals. It's important to me because I have a rare disease – Familial Adenomatous Polyposis (FAP). I also run a blog – Life's a Polyp – about FAP and what it is like to live with it.
FAP is a rare, genetic disease that occurs in one in 6,850 to one in 31,250 individuals. FAP causes 100s to 1000s of polyps to develop in the colon and if left untreated, it is guaranteed to turn cancerous typically by the age of 40. Removal of the colon is the primary treatment leaving the individual with an ostomy, j-pouch, or ileorectal anastomosis. FAP also has several comorbidities associated with this disease including desmoid tumors, osteomas, cancers of the thyroid, pancreas, liver, adrenal glands, central nervous system, bile ducts, and cancer anywhere within the gastrointestinal tract as well as issues associated with malnutrition and malabsorption. NORD Familial Polyposis Report Familial Polyposis EMedicine
FAP is more than a rare disease, it is also a chronic illness. It is common for individuals with FAP to experience intestinal blockages, dehydration, difficulty absorbing nutrients and necessary electrolytes, chronic pain, nausea, and diarrhea. All of these issues may result in frequent hospitalizations.
I was diagnosed with FAP when I was about eight years of age. The polyps in my colon were found to be starting to turn cancerous and I had my colon removed when I was 9. I experienced several complications resulting in 5 surgeries in one year and a near death experience. I was left with an ileostomy and struggled with Post Traumatic Stress Disorder from my health traumas and severe depression. Six years later an Ileorectal Anastomosis, connection of my small intestine to my rectum, was attempted and succeeded. However, over the course of a year I would have another surgery and struggle to remain alive due to complications. My health began to stabilize over the course of the next five years. My doctor at the time advised I would likely develop stomach cancer by the age of 30. I turned 30 this year and although I have an increasing number of polyps within my stomach, they have all tested benign thus far.
Due to the rarity of FAP, it is typical for those of us with this disease to not personally know anyone else with FAP except for family members who also inherited the disease. With the expansion of the internet there is more support available online for FAP patients and we virtually meet and visit with others online. However, the in person support remains to be lacking.
For 2015 I started a fundraiser to start a research fund for FAP through the National Organization for Rare Disorders. I have designed several products and raised $640. Not bad for my first attempt. However, the fund still needs $32,000 in order for grants to be provided for research studies. Take a look at the products and designs available, all proceeds are donated to NORD FAP Research Fund.
Please help us spread awareness!
Life's a Polyp Blog
Visit to learn more about Familial Polyposis and what it is like to live with FAP
Life's a Polyp Shop
Browse various products with 5 designs to choose from. All proceeds donated to NORD Familial Polyposis Research Fund
Share This Article
