I was diagnosed with classic Familial Adenomatous Polyposis (FAP) around the age of 8. My mother, grandfather and likely some of his siblings were also FAPers. I didn’t really understand what that meant until I was diagnosed. Before that I knew what an ostomy was and how to take care of one and how one lives with one by watching my mother and grandfather. I knew they both had cancer and were doing better now. I didn’t know I’d be joining them or there was that risk. But I don’t think my parents really knew either or at least didn’t expect me to be diagnosed as a child but thought it might be something I’d have to be tested for as an adult.
My road to diagnosis started when 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 pediatric GI specialist, whom after 20 years, I continue to receive care from. I was pre-ulcerous due to stress and she uncovered family history of FAP and began monitoring me for polyp development. I also had supernumerary teeth, or extra teeth, that appeared in addition to regular teeth. Which was linked to my FAP. I had about 6 extra teeth that had to be surgically removed.
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 j-pouch. I had my surgery and my stoma was on the left side, in spite of my parents voicing concern to the surgeon prior to surgery of the placement of my stoma. Everyone else in my family with an ostomy has their stoma on the right side and the different location of my stoma alarmed my parents. My parents’ concerns were dismissed by the surgeon, stating that the way my organs were arranged the left stoma was preferable and there wouldn’t be too much lax in my intestine.
While recovering from my 1st surgery, an area of my incision became infected and I had to return to the ER. Where I found a large needle stabbing me in the thigh injecting morphine, which was immediately followed by my abdomen being cut open. The new incision was then rinsed and packed with gauze. I screamed bloody murder while I was being cut open, a solution sprayed into the incision, fingers roughly gracing the inside of my incision and pieces of gauze being jammed into my open wound.
Before too long I was back at the ER again for severe abdominal pains, I did nothing but cry and couldn’t sleep. My parents rushed me to the ER during the night, at what felt like an insanely high speed, to get me there as quickly as possible. An x-ray was done and nothing found. I was dismissed and my parents were told that I was just a “whiny child” and to take me home as nothing was wrong with me.
My parents took me home, feeling helpless as the pain medicine did very little for my pain. The next day my parents took me back to the ER as I had no improvement in pain and symptoms.
Fortunately this time, someone in the ER had more sense than those working the night before and more testing than a simple x-ray was completed. These additional tests found that my intestine was indeed too lax and had looped around itself and my other organs causing some of my small bowel to have already died and risking the other organs in its’ grasp. Full-blown emergency surgery was done to remove the dead intestine and dead j-pouch, release my organs and my stoma was moved from the left side to the right side, as my parents had originally requested.
I continued to have surgeries from the complications until finally the ostomy was deemed permanent due to inability to reattach my ends. I recall very little about these other surgeries during that year. I’m not even sure the timeline of the remainder of my fleeting memories.
My health remained stable for several years after this. In high school I started counseling for the 1st time, I was diagnosed with Post Traumatic Stress Disorder, for years I had been experiencing all the classic symptoms and continued for years after beginning counseling. I experienced a lot of anger and denial after the complications started during that first year. I hated my doctors, surgeons, hospital and even my parents. I wanted them to all pay for what they had done to me and through a series of life events I was consumed by the rage and became suicidal and homicidal for several years after that first surgery.
I still struggle with my PTSD to this day, especially after memories are triggered. Entering a hospital, medical tests, even simple lab draws trigger flashbacks and at times night terrors. I physically feel the pain of the memories, needles, scalpels, central lines, etc and at times I become so overwhelmed I’m on the verge of an anxiety attack and it takes all my strength to prevent a full scale anxiety attack. But with the help of my therapist and medication regiment, I learned how to cope with my depression and PTSD. Some days are harder than others, but they’re manageable now. However, I never accepted my ostomy. Deep down I knew I wasn’t meant to have an ostomy for the rest of my life. I believed it fervently, I hoped for a miracle obsessively. And one day, several years later everything I knew, changed once again.
At age 16, I came under the care of a different surgeon and with consultation of my GI specialist, it was decided that there was a chance, albeit small that I could have my ileostomy reversed. I jumped at the opportunity, I had to try it or I’d never forgive myself. This would be my 6th surgery. I remember the anticipation of finding out if the surgery had been a success as I briefly woke during the transfer from the surgery gurney to my hospital bed. I dared not speak with an NG tube, I looked to my parents for the thumbs up or thumbs down signal we had agreed upon. It was a thumbs up, I relaxed and drifted back into my medicated sleep.
The following year would be a struggle though, my health unexpectedly began to rapidly decline and I again was not expected to live. Due to extremely low electrolytes, I required weekly or more frequent appointments with my GI to review my labs in order determine if I needed to be hospitalized again just yet and to review any recent tests I had underwent. My doctor later told me she never knew if I’d make it to my next appointment for the reviews.
I had a team of specialists completing tests and consulting with my doctor. My doctor consulted other specialists around the world and I even traveled out of state for continued testing to try to determine what was causing my out of control electrolytes. Everything from simple x-rays to scans with rectal tubes inserted for contrast to be seen in my cavity and even making my blood radioactive and injecting the radioactive blood back into my body.
After a year, exhausting all other options, it was decided I had to undergo exploratory surgery. It was during the exploratory surgery that it was discovered that I had an intestinal stricture from excessive scar tissue and a hole in my intestine from an ulcer. The stricture made bowel control and nutrient absorption virtually impossible. Stool was unable to pass through the stricture resulting in extreme pain and constipation until I involuntarily vomited, which released the pressure, allowing stool to pass through the stricture. Only it wouldn’t stop, because there was literally a liter or more of liquid in my intestine that was finally able to be voided through vomiting and bowel movements. This cycle is what led to my uncontrolled electrolytes.
Scar tissue was removed and I was placed on TPN to allow the intestine hole to heal. I also underwent hyperbaric treatments where I received 100% oxygen therapy for around 2 hours 2-3 times weekly for a few months.
After a few months of TPN only, which meant nothing by mouth not even liquid for an extended period of time, I slowly was able to begin drinking and eating foods. I started off with one ounce of ice chips once an hour, to a few sips of water every predetermined interval, to a set amount of water at every interval to being able to drink liquids regularly again. I did the same with food. I was only allowed to eat one egg, with salt or pepper only for seasoning, for breakfast every day.
Then I graduated from my breakfast egg to a small salt and peppered boiled chicken breast with a small amount of unseasoned rice for lunch. Later I was able to also have dinner, and it was the same meal as for lunch. After several weeks of this exact same menu every day, I was able to include a little more variety. I hated eating, for weeks it was the same bland food and then when I could have some variety it was only foods that tasted awful and caused extreme pain. This variety came in the forms of any high protein food, mainly lean meats at every meal and several protein bars and protein shakes every day. The protein bars and shakes were extremely harsh on my body causing unceasing severe stomach cramps and pain.
Due to having a total colectomy and the majority of my small intestine removed, I have Short Bowel Syndrome (SBS) and must take medicine to help keep my stomach and bowel calm and controlled in order to function. In addition to SBS issues, food also causes severe stomach pain, cramping, and a delightful soundtrack of very loud stomach rumblings that you can even see move across my stomach like some alien life form trying to break forth from my abdomen. Granted, the rumblings and pain have improved since the subsequent years after my last two surgeries.
Over time I had my central line removed, was hospitalized on average once every 3-4 months for electrolytes and blood transfusions until 2007, when I received my last blood transfusions.
Over the next 5 years, I continued to struggle with my health with frequent hospitalizations and ongoing medical treatments to re-establish my health. Gradually, my health stabilized and improved. It’s amazing looking back where I started and where I am now with my health and life. I haven’t required a hospitalization since 2007, food is still bothersome but I am able to tolerate majority of foods. I have to plan out my activities due to the SBS but with planning and preparation, I’m able to enjoy most activities even if limited or modified. I graduated with a Masters degree and maintain full time employment. My husband and I are even pursuing surrogacy.
There is life after diagnosis of FAP, it’s not an easy road but it is a road one can travel and we can travel it together.