Desmoid Tumors and Esten's Story

Desmoid Tumors, or aggressive fibromatosis, are another rare disease that is common among those with Familial Adenomatous Polyposis (FAP). According to NORD, up to 32% of those with FAP will develop a desmoid tumor due to a mutation on the APC gene, where the FAP mutation is also found. Mutations may also be found on the beta catenin gene that may also cause desmoids to develop.

Desmoids have similarities to cancerous tumors called fibrosarcoma but are benign as they do not spread to other body parts. Desmoids develop in the connective tissues of the body anywhere in the body. Superficial desmoids are typically less aggressive than deep desmoids in the abdominal, extra abdominal or mesenteric areas. Deep desmoids look like dense scar tissue and are difficult to remove as they adhere to surrounding structures and organs. Although desmoids are benign, they can be life threatening due to compression on organs such as intestines, kidneys, lungs, blood vessels and nerves. Repeated irritation or trauma to a certain body area may increase the risk of a desmoid developing. Desmoids may grow slowly or rapidly and at times may even shrink without any treatment. Depending on the size and location, desmoids may have no symptoms or may cause:

• painless swelling or lump
• pain or soreness caused by compressed nerves or muscles
• pain and bowel obstructions
• limping or difficulty using extremities

Diagnosis of a desmoid can only be conclusively made through biopsy but evaluation of the tumor can be completed through ultrasound, CT Scan, and MRI. Desmoids are often closely monitored as a first treatment option due to the varied and unpredictable nature of desmoid growth. Surgery to remove a desmoid is not always the best treatment option as there is a high recurrence rate and there may be a more aggressive recurrence after surgery. Chemotherapy and radiation may be sought but also pose health risks to morbidity and mortality. Anti-inflammatory drugs may cause desmoids to shrink and anti-hormonal medications may help reduce growth in addition to novel molecular-target therapies such as receptor kinase inhibitors. Clinical trials continue to be conducted for new desmoid treatment options.

It is recommended to be evaluated by a doctor and hospital that has expertise in sarcoma. Preferably, the medical team for someone with a desmoid would include medical oncologists, surgical oncologists, radiation oncologists, geneticists and nurses. The Desmoid Tumor Research Foundation has resources and clinical trials for those with desmoids and also may help finding a doctor with expertise in sarcomas in the United States and the Desmoid Foundation of Canada is available for those residing in Canada.

A Desmoid removed from a FAP patient and friend of Jenny's
Measuring 1.234 kg & 25 cm

 Another friend of Jenny's with FAP and Desmoids shared insights she's learned over time stating in her opinion, the most important things to remember for Desmoid care is:

• If possible, don't let anyone excise a lump without knowing what it is first
• Don't let anyone surgically remove a Desmoid unless surgery is life preserving
• See a Sarcoma Oncologist with Desmoid Expertise, preferably a Medical Sarcoma Oncologist versus a Surgical Sarcoma Specialist
• Understand that Desmoids are different for individuals with FAP
• If you have FAP and Desmoids, only have biopsies done of potential Desmoids when necessary and only have surgery, when necessary, as both risk Desmoid creation and/or growth

This is a Guest Post by Esten Gose with Familial Adenomatous Polyposis and a Desmoid Tumor

I was diagnosed with Familial Adenomatous Polyposis/Gardener's Syndrome (FAP) at age 10.  I am the first person in my family to have FAP due to a spontaneous genetic mutation. Around that time, I had a tumor removed from my right jaw. 

Ever since my diagnosis, I have had yearly or bi yearly colonoscopies and endoscopies to keep an eye on my colon and the surrounding area.  In 2004, after my annual scope, my gastroenterologist told my family and I that it was time to remove my colon. We were told that I would likely die if we didn’t.


My parents and I traveled to the Cleveland Clinic in Ohio to have the procedure done there, as at that time, The Cleveland Clinic was a top hospital for treatment of FAP patients. We also chose to have it done there because they were one of the first facilities to perform laparoscopic surgery, and it was done as a “pull through” where the colon is removed and the small intestine Is attached to the rectum.  Having it done that way, we were able to shorten the recovery time from about a week, to about 3 days.

A few days after we returned home to Seattle, I missed a dose of the pain meds I was given to help with my recovery after they surgery. Missing that dose ended up saving my life, as I began having massive abdominal pain, and was take to urgent care. After various tests, I was rushed to the ER via ambulance for emergency surgery. A small hole had developed where the small intestine was fused to my rectum, and I had a massive infection in my abdomen.

That surgery saved my life, and my doctors and nurses told me that when I arrived in the ER, I was in sepsis and no more than an hour from dying. The emergency surgery that was performed gave me a temporary ostomy, with the goal of giving it 6 months to heal and performing a reversal.


During my reversal surgery 6 months later, my surgeon stopped the procedure mid-way through. There was so much scar tissue, that they had to come up with another plan. They decided to give me a permanent ileostomy, which I have now had for almost 16 years.


Recently about 8 years ago, I traveled to the Cleveland Clinic to have a larger desmoid tumor removed from the right side of my abdominal wall just below my rib cage.  My colorectal surgeon was able to safely remove it, and it was sent to the lab to be studied.  This surgery was relatively routine, and I did not have any complications.  I was hospitalized just short of a week and traveled home with no issues other than post-op pain management. This tumor was removed at a good time, as my doctors told me it was pressing on my rib cage, and nearly broke my ribs.


Fast forward to 3 years ago.  I noticed a bump in my abdominal wall and made an appointment to see my doctors at the Seattle Cancer Care Alliance.  Various tests were done, and it was determined the bump I noticed was a Desmoid Tumor.

This type of tumor is usually non-cancerous but can still grow and cause problems.  My oncologist suggested that we treat it with proton radiation therapy, as surgery would be potentially dangerous.  Radiation therapy can more specifically target the tumor, so less surrounding area near the tumor is affected.

Luckily for me, the Seattle Cancer Care Alliance here in my hometown has a Proton Therapy Center just north of Downtown Seattle.  We scheduled an initial appointment there to go over the plan.  The staff there did an initial CT scan to map out the area to be treated, and make sure the exact site was marked.  They put a few ink tattoo dots in specific coordinates so that when I begin my treatment, the staff will know exactly where to position the equipment.


We then scheduled the treatments themselves.  They would be done once daily Monday through Friday for a total of six weeks.  When the day came for my first treatment, I honestly was not nervous at all. The staff there are wonderful and help make you feel very comfortable.

When I arrived at the center for each day’s treatment, I checked in with the staff at the front desk. You are given a bathrobe to use for each treatment visit, so when they take me back, I would change into a hospital gown.  Once the treatment room is ready for you, they bring you from the waiting area. I would lay down on the table. The room has lasers that help the staff position the table in the right coordinates.

Once they are ready, the staff would leave the room to their control room, and shortly after, the gantry above me would begin to move into position, and the treatment would begin.  The treatment itself was 100% painless and would only take 20 minutes or less each day.


My nurses did advise me that beginning about a week into my treatments, the proton radiation would cause my skin to change slightly at the treatment site. It caused my skin to develop wet blisters, which were initially tricky to deal with. Since it was just above my ostomy site, I had to learn to cut my wafer a bit differently so that the skin with the wet blisters from my treatment were able to heal properly.

 Fast forward to six weeks later, and my treatment was competed.  They give you a certificate of completion, and a “Challenge coin” to commemorate your graduation from treatment.  I met with my oncologist after the end of my treatment, and we learned that I would need to schedule an MRI every six months for the next 5 years to check on the tumor that was treated.

As of today, it has been just over 3 years since I finished my treatments, and my oncologist says that the tumor they treated has stopped growing, and even shrunk a bit. I have 2 years left of MRI’s, and then I will just have annual visits instead.

I am extremely grateful to my medical team of doctors and nurses both here in Seattle, and in Cleveland. They have both been incredible participants in my ongoing medical care.

Esten

Esten Gose is a 37-year-old with Familial Adenomatous Polyposis (FAP), born in Seattle, WA and currently living in Snoqualmie, WA with his wife and 2 cats.  He has been married to his wife Jennifer for almost 5 years. He has had his ileostomy for almost 16 years. Esten enjoys sports, traveling with his wife, and spending time with family.

For more detailed information on Proton Radiation Therapy visit:

https://www.sccaprotontherapy.com/proton-therapy. 

This article was updated 3/31/2024 to share the photo and insights from individuals with FAP and Desmoids

The Whipple Procedure

If you're within the Familial Adenomatous Polyposis (FAP) community, you likely know at least one person who also had the Whipple Procedure. Due to the high precancerous polyp growth associated with FAP, it is common for FAP patients to also develop polyps in their stomach including the duodenum, the area that leads from the stomach to the small intestine. Often these polyps become too large and will block this opening or turn cancerous. Often the polyp(s) can be removed during an EGD procedure but sometimes require surgical removal resulting in the Whipple Procedure. Another common procedure due to a polyp blocking the bile duct is the ERCP (endoscopic retrograde cholangiopancreatography) that results in a stent placement to keep the bile duct open after polyp removal.


The Whipple Procedure is also called a Pancreaticoduodenectomy. This surgery removes the head of the pancreas, the gallbladder, duodenum, and a portion of the bile duct and stomach. In some cases, the stomach is not removed and this modified version of the Whipple is called a pylorus-preserving Whipple. The remainder of the pancreas, stomach and small intestine are then reconnected. The surgery in both instances typically requires 5-7 hours to perform.


Due to the complexity of this surgery it can take months to a year for someone to fully recover and feel like themselves again. With the removal of part of the pancreas, diet changes may be required to help reduce symptoms of diarrhea, gas, and stomach pain and may require medication to help with digestion and reduce acid.


Diet changes may need to include:

• Avoid or limit fried, greasy or high fat foods
• Consume fat from healthy sources such as olive oil, canola oil, peanut oil, nuts, seeds and avocados
• Consume 2.5 cups of fruits and vegetables per day
• Eat small meals and snacks to prevent feeling overly full and for easier digestion
• Drink at least 6-12 cups of fluids daily to reduce fatigue, light-headedness and nausea
• Limit fluid intake during meals to prevent feeling overly full or nauseated
• Avoid alcohol
• If nauseated on an empty stomach, small bites of dry food are typically tolerated better than liquids
• Avoid concentrated refined/simple carbohydrates to prevent glucose intolerance or dumping syndrome symptoms
• Glucose intolerance symptoms include increased thirst, frequent urination, blurry vision and fatigue
• Dumping syndrome symptoms occur within 2 hours of ingestion and include flushed skin, light-headedness, weakness, abdominal pain, nausea, vomiting and diarrhea

Vitamins and supplements may be required due to malabsorption following the Whipple procedure. These may include:

• Calcium
• Iron
• B12
• Vitamins A, D, E, and K

Risks of the Whipple Procedure include:

• Bleeding
• Infection
• Delayed emptying of the stomach after ingestion
• Leakage from the pancreas and bile duct connection
• Difficulty with digestion
• Weight loss
• Diabetes

It is recommended to choose a surgeon well-versed in performing the Whipple and a hospital where 15-20 Whipple procedures are performed annually for the best results.


My mother required the Whipple Procedure 13 years following the removal of her colon with a permanent ileostomy due to colorectal cancer as a result of FAP. She had a polyp obstructing the opening of the common bile duct that caused a backup of bile and frequent pancreatitis. My mother had a difficult recovery and due to her high level of pain from the surgery became addicted to pain medication for a brief period. The pain medication addiction only worsened her recovery as she was unable to obtain the rest she needed. Soon after her Whipple, she was diagnosed with Type II Diabetes due to the removal of part of the pancreas and she now requires insulin. Years after her Whipple, she began requiring Vitamin D and K on a regular basis. In early 2020, she required an ERCP stent placement due to recurring polyps and scar tissue at the reconstructed bile duct.

The Whipple Procedure is a demanding, risky surgery that no one wants to require but it can be life saving. However, with routine monitoring of polyp development one has increased prospects for the best treatment and health outcomes possible.

A Mission for Early Cancer Detection: Daniel's Story

This is a guest post by Daniel Shockley

My name is Daniel Shockley, I reside in Hawaii and retired at age 43 from the Navy in 2003 after serving 22-years on active duty. My last three years were spent while deployed to Middle East in direct support of OPERATION ENDURING and IRAQI FREEDOM. Fast forward to May 2012, I underwent my first colonoscopy that was scheduled at age 51. The procedure was performed by Dr. Fernando Ona of the GI Clinic at Spark M. Matsunaga Veterans Affairs Medical Center, Hawaii. Approximately 100 polyps were discovered throughout my colon, rectum, and anus. A large mass was found in my ascending colon causing an 80% blockage. Based on these findings I was immediately referred to Susan Donlon, Certified Genetic Counselor, Tripler Army Medical Center (TAMC), Hawaii.  It was suspected I may have a gene mutation which can be confirmed by DNA testing.  The DNA samples were gathered and sent to a molecular oncology laboratory in California.  Approximately three weeks later the results arrived and revealed the rare gene mutation, Adenomatous Polyposis Coli (APC), which is an inherited disorder best characterized by the development of a myriad of polyps in the colon. These findings confirmed the diagnosis of Attenuated Familial Adenomatous Polyposis (AFAP), which is a variant of Familial Adenomatous Polyposis (FAP) that can best be characterized by fewer colorectal polyps (commonly 10 – 100), later age of onset of polyps (mean age of polyp diagnosis, 44 years), and cancer (mean age, 56 years).



Daniel and Dr. Henry Lynch

It should be noted, Dr. Henry T. Lynch, Creighton’s Hereditary Cancer Center, Department of Preventive Medicine, is credited with the discovery of AFAP. Additionally, Dr. Lynch is one of the founding fathers of genetic research. There are currently no statistics on AFAP. However, it is estimated that <0.03% of the global population have this condition.

Upon receiving the diagnosis of AFAP, Lt. Col. Ronald Gagliano, Chief, Colon and Rectal Surgery and Director, Surgical Research, TAMC along with Susan Donlon, informed me surgery was inevitable, as there is no cure for AFAP.  It must be noted leading up to the confirmation of AFAP and prior to the colonoscopy, I considered myself to be in good health with no indications of any problems with my colon.  Furthermore, there is no known family history of colon problems. Dr. Gagliano and Susan Donlon encouraged me to read about my condition, the type of surgery required, and life after surgery. This is when my personal research journey commenced.  My focus from the onset was to embrace this condition.  My quest was to better understand this disease and what impact it will have on my life. Dr. Gagliano recommended, based on the DNA test results, that in the best practice of medicine colon surgery is needed.  I concurred and the surgery, known as a total-proctocolectomy with ileostomy, was scheduled at TAMC.

 The surgery was successfully performed at TAMC in July, 2012.  The rectum, anus, and entire colon were removed. A large mass in the ascending colon turned out to be an 8cm tumor. The pathology report revealed the mass was a tumor and was listed as high grade dysplasia.  As a result of my surgery I have an ostomy which is a prosthetic device that collects my waste. I have adapted to this lifesaving and life changing surgery. To date, I continue reaching out to numerous organizations, both local and abroad, in an effort of sharing my experience. My mindset has been, and continues to be: I tend not to think about things I am unable to control. Medical issues I am unable to control. What I can control is my attitude and after 5 decades on God's green earth my positive attitude has brought me this far, why change now! Furthermore, I can attest that worrying is not the cause of my condition. Therefore, worrying will not make it go away. Based on my personal research of this disease, I am able to better understand my condition, overcome adversity, adapt to my new lifestyle, and persevere with my life. .

 On a personal note, I consider having AFAP as a challenge rather than an obstacle.  I continue to press on with my life with business as usual approach.  As a result I have adopted four (4) words to reflect on as part of my new journey in life as an ostomate and advocate for colorectal cancer awareness focusing on the importance of early detection:

• Attitude = 100% (The English language contains 26 letters. If the letter "A" represents 1 and the letter "Z" represents 26 take the letters of ATTITUDE and add them up. ATTITUDE = 100) It is important to note that the word ATTITUDE is the only word in the English dictionary that equals 100.

  Having a positive attitude attributed to my successful recovery.  As a result my transition to this new style as an ostomate was with minimal difficulty. Furthermore, I believe attitude is permanent and mood is temporary. It is possible to have a positive attitude and be in a bad mood.  However, by maintaining a positive attitude it will have a direct impact on your mood and the outcome of your life. Do not let a bad mood affect your attitude.  I remind myself of this daily and try to remain positive while pressing on with my life.  

• Faith:  Firm Assurance Influenced Through Hope (An acronym I created on my observation of the word faith)

  My analogy of the word FAITH:  Having the ability of believing in something you are unable to see, but you know it is there. Example: You cannot see the prevailing trade winds; however, you can see what affect they have by the swaying of the palm trees.  My positive attitude had a direct impact on my FAITH which allowed me to have a significantly better chance of overcoming adversity.

• Adapt:  Attitude Determines the Ability for a Positive Transition (An acronym I created on life as an ostomate)

  My analogy of the word ADAPT:  After undergoing total-proctocolectomy with ileostomy surgery I had to adjust to this new lifestyle without a colon.  An ileostomy can be best described as a stoma.  This is a surgical opening constructed by bringing the end of the small intestine out onto the surface of the skin on the lower right abdominal area.  The intestinal waste passes through the ileostomy and is collected in a prosthetic pouching system which is adhered to the skin over the stoma.  The pouching system requires changing every 3 – 4 days.  Having an ileostomy is a transition to a life changing experience. 

  It is evident my positive attitude directly influenced my faith which directly aided with my ability to adapt to lifestyle as an ostomate. From the onset I embraced being an ostomate as a challenge rather than an obstacle or disappointment.





 Honolulu Managing Director Ceremony Proclaiming
March 2015 as Colorectal Cancer Awareness Month

• Passion:  My positive attitude along with my strong faith directly impacted my ability to adapt to this new lifestyle with an ileostomy.  As a result I have a yearning to share my story, the importance of colorectal cancer awareness, early detection and AFAP.  This in hopes it will be a source of encouragement and inspiration for the masses. Additionally, on behalf of the Fight Colorectal Cancer and Colon Cancer Alliance I have been asked to represent both organizations in Hawaii and request Hawaii Governor David Ige and Honolulu Mayor Kirk Caldwell to proclaim March 2015 National Colorectal Cancer Awareness month in Hawaii and Honolulu respectively.  



Governor Ige Proclamation of March 2015 as
 Colorectal Cancer Awareness Month

Proclamation ceremonies were conducted in the Mayor’s conference room (above), Wednesday, February 25 and in the State Capital Ceremonial Room (right), Friday, March 13, 2015. It should be noted, these are the first ceremonies of their kind for this campaign.

Together we can make a difference on sharing the importance colorectal cancer awareness and early detection.

Daniel Shockley was diagnosed with Attenuated Familial Adenomatous Polyposis (AFAP), a subtype of Familial Adenomatous Polyposis. Since diagnosis, surgery to remove a pre-cancerous tumor and create an ileostomy, Daniel has made it his mission to spread awareness about colorectal cancer and the importance of early detection. In addition to public speaking, Daniel also uses his experiences to advocate for legislation in support of colorectal cancer detection and treatment programs. All of Daniel's efforts can be followed through The FAP Gene Support Organization, based in England. 

Learn the differences between FAP and AFAP.

The Touch of Cancer

Colon Cancer Awareness Month always leads me to reflecting upon my own family's experiences with colon cancer. I've mentioned before that FAP has ran in my family for many generations and we have had countless numbers of members die from colon cancer. Although my father's family doesn't have FAP, my paternal grandmother died of colon cancer and a very beloved paternal aunt of mine also unexpectedly developed and survived colon cancer.

Growing up with both my grandfather and mother living with FAP allowed me to gain a lot of firsthand knowledge and understanding of ostomies, FAP symptoms, and eventually cancer. I realized that the majority of people weren't experiencing what my family was and yet it was all completely normal to me. With each generation of FAP in my family, the more we've gained in information and understanding.

My grandpa survived colon cancer and appeared to lead a healthy, stable life. He developed colon cancer in the late 1950s and had his colon removed and a reconnection. I have vague flashes of visiting him in the hospital in 1994 when he developed rectal cancer and underwent another surgery for ileostomy and radiation. I never saw him struggle with his health after that until the last year of his life. He didn't let his ileostomy stop him from what he enjoyed. We went on several fishing trips, hiking through the woods, canoeing and camping trips every year. My grandpa was one of the most cherished individuals in my life. He taught me indescribable amounts of knowledge, skills, and values; we spent countless days and sleepovers together. There was no one like my grandpa and in my eyes, he could do no wrong. He was a strong, independent man with a great love for the land and his country; he fought in World War II and was awarded a Purple Heart. He saw and experienced unimaginable horrors that he kept locked away, rarely to be spoken of again. He was a no non-sense man and yet he could laugh and play in the most fun loving ways with his grandchildren.


Me and My Grandpa

Then one day, the health of this robust man began to decline. It started with reflux after eating at times, this reflux continued to worsen and he began vomiting small amounts and then large amounts after ingestion. He was rapidly losing weight. He sought medical care at our local VA and was prescribed anti-reflux medication and was advised that his esophagus was narrowing causing the reflux and vomiting. He underwent procedures to place stent like devices at the opening of his stomach and within his esophagus to reduce the vomiting and reflux. This reduced the symptoms temporarily but never provided the necessary relief. His weight continued to decrease, his body was wasting away already. Unfortunately, thorough testing wasn't performed from the onset of his symptoms but instead 4 months later when he was admitted to the VA hospital. After he had his ileostomy, he was never told he should have routine endoscopies and therefore never had any performed again until this admission. Once he finally underwent an endoscopy, the true culprit of his symptoms was discovered - FAP had caused stomach and esophageal cancer. This discovery came too late, cancer treatment wasn't a viable option and hospice was elected. Over the course of the next 3 months, my parents and I visited him routinely to help provide care and spend as much time as we could with him. Towards the end of his life, his mental capacity was altered and he was succumbing to the vast effects of cancer. I watched him mistake tv remote controls for the telephone as he tried to answer the ringing he heard. The bedroom I grew up in taking naps and watching wrestling with my grandpa was now his deathbed. He was no longer speaking and rarely conveyed any acknowledgement of his loved ones around him. I held his hand and told him how much I loved and cherished him and although deeply saddened, it was time that he left this earth. He squeezed my hand and I knew my grandpa was still there trapped within that cancer ridden body. I knew he heard me and he gave me the greatest gift he could - a hand squeeze. He died the next day.

My mom was the only child of my grandpa's to inherit FAP and expected her experience to be much like his had been the majority of his life. My mom's journey was fairly calm until she unexpectedly received a diagnosis of colorectal cancer shortly after giving birth to me. My grandpa's health wouldn't change for the worse until 14 years later so everything up to this point was considered normal in our family. My mom expected to have the same surgery as my grandpa's first surgery, large bowel removal and reconnection. My parents were surprised with different news - a permanent ileostomy and very little information. Soon after my birth, my mom had her surgery and experienced a multitude of complications and nearly lost her life. Unlike my grandpa, whose struggles I rarely witnessed until the last year of his life, I witnessed my mom's struggles daily with her energy, ostomy, and frequent intestinal blockages. I've been fortunate to never have issue with food causing intestinal blockages. Yet my mom experiences intestinal blockages nearly monthly in spite of her best preventative efforts and would often require hospitalizations from the blockages. Fortunately, her number of hospitalizations have significantly reduced over the years. In 1998, she underwent the Whipple Procedure due to a precancerous FAP polyp in her duodenum. The surgery was successful but she had a difficult recovery with extreme pain and stomach issues that seriously impacted her ability to eat for an extended period of time.


Me and My Mom

My mom is my true inspiration and my hero. We experience the common mother-daughter relationship issues but I couldn't ask for a better mother. She has always been there for me, so very understanding and supportive. Because of her FAP experiences, she's able to fully relate to my health challenges. That's an incredible and rare gift a mother can give her child, especially when it comes to a rare disease. My mom let me know I wasn't alone in this journey when I didn't know anyone else outside of the family with FAP. Even in her own health challenges, I'm one of her first thoughts. When we were both simultaneously hospitalized, she chose the adult hospital connected to the children's hospital so that we could visit. As an adult, I've had the honor of returning some of the care she so quickly and willingly provides me. FAP has placed very difficult choices and tasks upon my mom regarding herself, her father, and her child and yet she faces each obstacle with an intense resiliency and quiet strength. I would never wish any health issues upon my mom but I can't help feeling grateful that if both of us were going to have health issues anyway, I'm glad we share them. By sharing this disease, she was able to teach me about the disease, ostomies, and the values I would need to develop the skills necessary to live with this disease. I would be lost without her. 

Like most families affected by FAP, colon cancer is sadly part of our family. I think of the numerous ancestors my family has lost to colon cancer and how it has touched each of my family members. The rarity of FAP, a colon cancer causing disease, is evident in each of our stories. We all experienced doctors who were unfamiliar with FAP and thought cancer stopped with the colon with FAP. Medical care and informed medical decisions were not properly provided to all of us. This lack of information and proper medical care significantly impacted us and our outcomes could have been drastically altered with the proper information and treatments. My grandfather and mother could have been diagnosed significantly sooner, received treatments at the early stages of cancer and not have experienced such risks to their lives and ultimately death for my grandfather.

This is yet another reason why research and awareness is essential for the treatment, cure, and survival of  individuals with rare diseases and cancers. The FAP Research Fundraiser was a huge success and we raised $640 to start a FAP Research Fund with the National Organization for Rare Disorders. You can now find all kinds of products with various designs with profits donated to NORD FAP Research Fund at Life's a Polyp Shop. I hope you'll join our efforts.

What FAP Means to Me

We are all faced with at least one event, one experience that shapes us, changes us, and forever transforms us. It etches out a path, trailed with the obstacles and joys that may stem from our transformative experience. We're drawn to this path like a moth to a candle, we may fly elsewhere but we are always drawn back.

Familial Adenomatous Polyposis is that transformative moment that lasts a lifetime for me. For someone unfamiliar with FAP, it's hard to grasp the full meaning of what FAP is and how it changes a person. FAP is more than a mere chronic illness, it is more than a lifetime of coping and managing a disease. Every aspect of one's life is touched along with the potential for generational changes. In the midst of the horror that is FAP, inspiration and goodness is able to sprout. These buds provide deep wells of strength, compelling us to forge on, lighting our path.

I've shared my struggles with FAP throughout this time; the new and old challenges, haunting memories, overwhelming fears. There's more though to the true depths of FAP, it's easy to overlook as it's overshadowed by the medical, the now that constantly berates us for our attention.

FAP is my disease, it is what makes me me. I own this disease, I know nothing different. I am the last known in my family to have inherited this disease. I come from a long line of FAPers and I'm not sure if any of the descendants of my great uncles and great aunts have FAP as the family has lost contact. As a child, the only individuals I knew with FAP, who were like me, were my grandfather and my mother.

FAP is my taker. I endured the constant barrage of death taking loved ones since I was an infant but I was to be surrounded by FAP as well. Not only was FAP within my genes but it was attacking my mother while I was developing within her womb. My life was to be intertwined with the mixture of death and FAP in a twisted poetic sense. Shortly after my birth, my mother discovered she had stage I colorectal cancer. At 3 months old, I nearly lost my mother to FAP and the cancer it brought. Real or not, I have always had the vision of myself as an infant sitting or lying atop my mother's stomach while visiting her in the hospital as she fought for her life. Years later FAP took my grandfather from me - he survived colon cancer but decades later developed stomach and esophageal cancer courtesy of FAP.
FAP doesn't end with the removal of the colon. The polyps often spread, we're at risk of associated cancers and other complications. There is no security with FAP. These complications limit my everyday life. Food and activities are my enemies, easily upsetting the delicate balance of my stomach and my body. Stress and lack of sleep aggravate my symptoms further creating obstacles. Everyday is a new day, a new race for the end of the day onto the next. No longer do I have easy choices, I am forced to make some of the most difficult decisions I have been faced with and as a result long time dreams have been stolen from my grasp. I can no longer think of the present only or what I want, I must take into consideration the greater good for the long term. Decisions I am still preparing to disclose that have ripped apart my heart.

Somehow, FAP has also become my giver. In the course of changing my life with ongoing medical issues, trials, and even near death, it sent me on a road that I'm not sure I would have traveled without the guidance of FAP. Amidst the landmines, FAP gave me a beaten path that led me to a beautiful oasis. I couldn't be more grateful for the treasures of my life. I have found blessings around every corner - through my parents, spouse, friends, school, and employment. FAP gave me a compassionate understanding, strong will, incredible sense of determination, and need for security. This combination has driven me throughout my life to conquer my goals. I have managed to achieve the goals I set forth and continue efforts to reach new goals. My doctor, parents, and I were uncertain of what my body would withstand. Without disability accommodations with my schools, I wouldn't have been able to complete high school or college as scheduled. My first attempt at full time employment was a failure; the stress crippled my body. I will never forget the lessons I learned and the skills I gained. With each trial, each failure, and each success I withdraw information about myself necessary for my survival so that I may try again and reach higher. FAP even shaped my career, steering me into the medical field with the intent of improving medical experiences for others. I am amazed by where I am in my life now. Although I would have easily made it here without FAP, the journey is that much more beautiful and triumphs that much sweeter because of the obstacles set forth by FAP.

In spite of my triumphs, FAP and fortune are not always so kind and can change directions without notice. We can't be safe guarded forever from the complications of FAP. Many are lost to the devastation of FAP and there will be many more. This is not an easy battle to win and we are at a disadvantage due to the rarity of FAP. Too many of us have doctors who are unfamiliar with FAP and attempt to lead us in the wrong directions in our care. I have fought to end FAP in my family. Now I would like to expand my fight and join the ranks of others battling to end FAP for future generations, prevent the development of colorectal and associated cancers and reduce or eliminate the other risks and complications for present FAPers.

It's these personal touches and steering by FAP in my life that led me to launch the FAP Research Fund Fundraiser. My hope is to launch this fundraiser regularly in partnership with National Organization for Rare Disorders. I have had the life long goal to change the course of FAP so that others close to me may not suffer as I have, I take this hope to the community now. As a community, we are stronger. As a community, our impact is greater. I ask you to join me so that we may fight along side one another against this disease.



www.CafePress.com/LifesAPolyp

Zebras and Ducks

Anyone with Familial Polyposis is already a rare individual. National Registries show FAP occurring in 2.29-3.2 per 100,000 individuals. And if you're anything like me, this rarity is only the beginning of rare health issues.

My GI doctor has for a long time, quite accurately told me that:
 "You look like a duck, act like a duck, sound like a duck. But actually, you're a zebra".
She couldn't be more correct. She tells me that there's no reason I should have the severity of stomach pains, bloating, severe malabsorption, and issues with rich foods that I do. She has stated for years that I would be a perfect case study for medical students because I'm not your textbook example of a FAP patient, what is typical is never typical with me. Everything is the opposite. Doctors check your abdomen for a quiet gut, they actually shouldn't be hearing constant gurgling. However, because I'm always the opposite, my doctor knows that if she doesn't hear steady gurgling from my abdomen, I'm in serious trouble.

It's not uncommon for health issues from FAP to lead to other problems. And it makes sense. With years of malnutrition, other parts of your body are at risk. My neurologist and my physical therapist don't know what caused my bulging disc but my malnutrition issues, past and present, definitely have further complicated my neck issues as discussed in my previous post. Since my last post, my physical therapist diagnosed me with an ALAR ligament sprain and told me this is a rare occurrence and his first in his 20 years of experience. Seriously!? Well, go figures. Why not, that makes a total combination of 4 different issues with my neck - disc, joint, muscle and ligament. I'm pretty sure that the only thing left is for a broken bone. Ha. My neck issues change rapidly, improving and worsening without warning. And due to the constant unpredictability, my physical therapist has joined my GI doctor on the zebra train and now refers to me as a lil' zebra. I can't help but laugh, it's only the truth.

Being a zebra in a world of ducks can be frustrating. You don't really fit in, medical providers don't really know what to do with you, you're more likely to undergo much more testing and procedures in efforts to rule out what normally would be the cause of symptoms, more treatment methods you have to sift through in a trial and error basis. In spite of all the frustration, there is a positive side that the ducks won't experience or contribute to the medical field.

When you are a zebra in a duck suit and you have good medical providers, they can be armed with this knowledge to look for the stripes instead of the feathers, to remain open minded to alternative answers and explanations and to consult more with others in their fields. Consultation is beneficial to all involved - increased understanding, awareness and opportunities for learning and different treatment approaches to complex health issues.
So embrace your zebra stripes. I've learned to wear my zebra stripes as another badge of honor. Nothing makes me smile quite as much as when a medical provider, like my physical therapist, declares "There is nothing normal about you".
Nope, there isn't. And that's what makes me so special, within and outside of my medical issues.

Expecting the Unexpected

Familial Polypisis information, awareness and groups are spreading and growing like wild fire since I was a kid. People outside of bowel disorder groups still don't really know about us, but so many more within such health groups do. As a kid, I only knew one person outside of my family with this disease. Because of that, I've always felt a special connection to every FAPer.

I've mentioned in an earlier post that my mother, grandfather and likely some of his siblings were also FAPers. I didn't really understand what that many until I was diagnosed. Before that I knew what an ostomy was and how to take care of one and how to live 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 in grade school but thought it might be something I'd have to be tested for as an adult. After all, that was when it hit my mother and grandfather. Even after I was diagnosed, we didn't expect me to live with an ostomy for six years. The surgeon had prepared us for just three months until everything went terribly wrong.

Through all the growing FAP groups I've gotten to know other FAPers and it always amazes me when I come across someone and they were the first one in their family to develop the mutated gene. I definitely didn't expect any if this for me but I also wasn't completely unprepared due to having family members with FAP and ostomies. I can't imagine being the first in my family and to be the one who figures it all out, endures it all and potentially prepares their future generations for what may be heading their way. Although it would also be nice to know that no one prior had to go through FAP, perhaps it will end with you if your children are the lucky 50% and living without the fear or stress prior to being diagnosed.

As I've discussed before, my goal is to end my family's cycle of FAP, even if that means I have no children myself. But I think a lot of that comes from seeing how its ravaged my family through the generations and I'm the last born to have been diagnosed, my aunts and cousins have all been cleared. Perhaps if I was the first diagnosed, I wouldn't be obsessed with being the last.

There's definitely advantages to both the expected and the unexpected, it just depends on your response. And even when we do our best, we're never completely prepared. We just do our best with what we know.

FAPulously Overwhelmed

I apologize for not posting for such a long time. Sometimes it's hard to do this, sometimes I feel so drained by the end of the day I don't want to do anything and other times I feel so good I want to go out and enjoy it for a change.

A few things have happened since my last post. As you may recall from Energy Rescue, I have difficulty with B12 like many FAPers. My B12 has jumped to 1095 after another month on B12 microlozenges, that's just 5 points below that to range! I definitely recommend anyone with low B12 to talk to their doctor about these microlozenges. My hemoglobin still remains below normal, even though a good B12 helps with absorption of iron. However, I have so many stools, and some body, that I don't think it can be helped. So I keep taking iron every time I eat. My last scope didn't show any ulcers or anything to explain how I'm continually losing blood. I believe my intestine becomes easily irritated if I'm unable to have a bowel movement or if I delay a movement for too long, in this case diarrhea and SBS are my friends!

I have even restarted taking the sulindac to reduce polyp growth.

In Ending the Family Cycle, I've mentioned my plans to have a surrogate and use only my eggs that don't have the FAP gene in order to have a child. Well as the time to try this continues to near, the more I've been overran with a desire for a child. Even to the point that I started double guessing my plan and considering risking having a child with FAP if the doctors refused to only use my non-FAP infested eggs. I don't condemn anyone's reproductive choices, there's nothing wrong to have a child with FAP. My personal decision had just always been then that if I can't have a surrogate and only use my non-FAP eggs, then I wouldn't have a child. I've based my personal decision on two things: I'd love to be the last person in my family with this disease and end it and secondly, I don't want to risk my child going through what I have gone through with so many complications from the surgeries even though the medical techniques and procedures are much better now.

In spite of this long standing decision, baby fever started to get me. But that fever may be over as another kind of feverish feeling has started.
The last couple of weeks I've experienced a sudden change in body temperature. Although my temperature has actually been low, I've been experiencing hot flashes. I've even enjoyed being outside in 32° weather with just regular clothing on, my only complaint was that my hands were cold. I'm going to contact my doctor, some have mentioned possible thyroid issues. Which got me thinking, there's a connection between FAP and thyroid. So I started reviewing articles about FAP again. I remembered risk of thyroid cancer but I didn't remember risk of liver, pancreatic adrenal, bile duct, and even a brain cancer!

What the hell!? As if claiming our whole GI tracts isn't enough, FAP has to try to lay claim to other parts of our bodies so we can possibly develop other cancers. Who the hell thought up this disease. There's plenty of other diseases I'd rather not have, namely any of the autoimmune diseases. Now I think FAP is another lottery jackpot of diseases, symptoms and complications just waiting to happen even more.

So needless to say, this helped my over zealous baby fever to return to a low simmer.
And after a few moments of self pity, I'm not worried that maybe I have thyroid cancer. I hope I don't, but I will get it checked out and I'll update with the results. Fingers crossed!

Ending the Family Cycle

At last my GI doctor appointment, my doctor gave me a study to read about colon cancer in families, who is at elevated risk and it also included FAP. It was an interesting read and I urge you to also read it when you get a chance. Preferably after you've finished reading this post ;)

The study reminded me of my own desperate need to stop this familial cycle so that I may be the last one in my family with FAP. In a Medical Angels and Demons, I discussed my gynecologist who performed the Essure sterilization procedure for me so that I may not have to worry about passing on FAP. I respect that this choice is not for everyone. For me it was though. I've seen what FAP is capable of with my grandfather, mother and myself. Others in my family have also been affected by FAP and colon cancer. I've seen the horrors and I don't want to risk that for a child of my own. My mother was diagnosed with FAP and colorectal cancer before I was even 3 months old. At 3 months, I almost lost my mother because of the FAP and cancer. I don't know if my mother would have taken the chance of passing on FAP had she known that she also had FAP and how it would affect her and me. My grandfather had already battled colon cancer prior to this and he would again battle the cancer causing FAP as I neared adulthood. After my diagnosis and surgeries in grade school, I became enraged and depressed. I blamed my mother for all the medical misfortune I experienced. Afterall, she was the one to give me FAP so in my darkened mind, it was her fault. I blamed her and my doctors for years. I was consumed by hate and despair and wanted nothing but revenge. It took me several years to accept what happened to me and to realize that it wasn't my mother's fault. It was a very tough time for her, to watch her child suffer mentally and physically because of the FAP and what it's capabilities.
That 50% chance is too great for me. In my family, the FAP polyps have increased earlier in age with each generation. That isn't to say that it would for my own child, but it's not something I wish to discover. And in the study I referred to earlier, colon cancer is still an elevated risk for first degree relatives even when it was diagnosed over the age of 60! Colon cancer isn't slowing down and I've seen enough of it.

The risk of pregnancy and childbirth for myself is also far too great. In Medical Angels and Demons, I also discussed why pregnancy and childbirth is dangerous for me. Even as a child, I  knew that pregnancy wasn't right for me. Although I didn't fully understand pregnancy and childbirth at that age, I knew it wasn't the right choice for me and it seems as if everything that has happened to me in life has helped to ensure that it would be difficult to even attempt pregnancy. And I'm absolutely fine with that!

But just because I don't want to risk having my own child with FAP doesn't mean that I'm stopping there. Because I would really like to have my own child, just not with FAP. I've researched IVF studies and have come across successful cases of individuals using IVF to only utilize eggs without FAP. Unless something changes, I have a surrogate on the wings who has agreed to undergo IVF with the fertilized egg of myself and my husband so that we may have a chance of a child. Even then it may not work due to the inability to have a guaranteed full term pregnancy and childbirth, but this is a risk I'm willing to take. There isn't any other option in my mind in order to have a biological child without FAP. We've located a fertility clinic that we're hopeful about and after harvesting eggs, we're given 6 attempts at IVF. We'll have one shot at this, and if it still doesn't work then fate has spoken. My husband and I have discussed adoption as an alternative if the IVF is unsuccessful but at this point we don't feel like it's the best choice for us. That may change though and we're open to revisiting adoption.

Right now, IVF is our plan and as hopeful as we are about it's success we know that it may only be hopes. This has been the long time plan of mine and fortunately I married someone who is on board with it. As the time approaches for us to start the IVF process, the further I'm conflicted between hopefulness and fear. I don't want to plan too much or become too hopeful as the spiral downward if those hopes are dashed would be devastating. In an effort to protect myself, at least some, I focus on the improbability of IVF working for us and I try to not think of a future with a child so that if IVF is successful with a pregnancy, then I can enjoy planning for a child's life and future. There are so many things I'd love to experience with a child, so many things I'd like to do for a child. I'd love to plan vacations, educational activities, birthday parties for a child. But until then, if I let myself escape in a bubble of hope in these fantasies, I may just be own worse torturer. And so I wait, we wait, and hope.

Should it not work out as planned, we will accept the decisions we've made and with the help of counseling move forward. It is all too great of a risk for me to allow a child of mine to live with and endure a life of FAP. Again, let me reiterate that this decision is not for everyone and I whole heartedly respect anyone else's decisions regarding their family planning without judgment.

The FAP Beginning

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 on the APC gene 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 autosomal 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, fibromas, cysts, lipomas
• Stomach, 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, Adrenal, and Bile Ducts

FAP is sometimes referred to as Gardner's Syndrome. This was described as a variation early on, prior to the level of understanding about FAP that is now known and is no longer acknowledged by the National Comprehensive Cancer Network (NCCN). 

FAP occurs due to a mutation on the APC gene and has been associated with mutations between codons 178 and 309, between codons 409 and 1,580, corresponding to exons 5-8, 9-14 and the first half of the large final exon. While the APC gene is the only gene identified to lead to FAP, there have been over 300 different variations of mutations found on the APC gene thus far.

Attenuated FAP is a variation 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. AFAP mutation on the APC gene is usually associated with mutations at the extreme 5' (before codon 157) and 3' (after codon 1,595) ends of the APC gene, and in the alternatively spliced region of exon 9 (codons 213-412). 

If a brain tumor occurs in someone with either FAP or a hereditary non-polyposis colorectal cancer condition, it has been referred to previously as Turcot Syndrome. However, the NCCN recommends against using this term as it is imprecise. 

NCCN recommends genetic testing to occur in infancy for children suspected of having FAP with colonoscopies occurring annually upon age 10, if symptoms do not present earlier requiring colonoscopy. For monitoring of hepatoblastoma to occur every 3-6 months from birth to age 5. NCCN guidelines also provide detailed recommended monitoring guidelines for the additional cancer risks associated with FAP. These can be viewed by creating a free account with NCCN. 

To learn more about Familial Adenomatous Polyposis visit these resources:

• National Comprehensive Cancer Network - FAP Guidelines for Testing and Management. Updated Annually
  
• Hereditary Colon Cancer Foundation Patient Guide to FAP. 2015
• National Organization for Rare Disorders FAP Report. 2014
• StatPearls: Familial Adenomatous Polyposis. 2023
  
• Medscape: Familial Adenomatous Polyposis Report. 2019
• The Genetic Basis of Familial Adenomatous Polyposis and its Implications for Clinical Practice and Risk Management. 2015