FAP and a Feeding Tube: Jeni LeeAnn's Story

This is a Guest Post with Jeni LeeAnn

I grew up knowing I had a 50/50 chance of having Familial Adenomatous Polyposis (FAP). My dad found out he had FAP just before I was born. His mother had FAP and all she knew growing up was that there was some family digestive disease that was killing some family members. She would up dying at 51 years old from complications of a Desmoid tumor when I was age 6.

My story is a little more complex because I was born with no nasal passages and had many surgeries before I could even remember. I do remember spending a lot of time in the hospital and doctor offices as a child. I was always preparing for a surgery or recovering from one. 

When I turned 16 we did the typical scopes to see if I had FAP. Sure enough I had FAP. I don't remember being sad or depressed about it. It was just another thing to deal with. I was no stranger to hospitals and surgery, so for me it wasn't a huge deal.

I had my large intestine removed when I was 20 and reconnected to my rectum so I don't have an ostomy. Life for me was pretty normal for the next 10 years, just yearly scopes and whatnot. I felt blessed and had no major issues.

Jeni LeeAnn

That all changed in 2009 when I started to have nausea, bloating, and pain. My doctor at the Cleveland Clinic did all the normal scans to see what was going on. What would follow would be about 10 years of guessing and uncertainty. He would do 7 surgeries to try to find out what was going on. Two surgeries were laparoscopic and 5 were full open surgeries. Finally, we found Desmoid tissue where my stomach and small intestine meet. It is as my doctor puts it "strategically placed for maximum damage", if it were even one inch lower it would not be an issue.

The hardest part of this time was the fact that I felt crazy. Every test and scan he did came back normal. I felt like it was all in my head. I even tried telling myself there wasn't a problem and would force myself to eat. That would only cause more issues such as being sick for a week following forced eating.

I was incredibly blessed by my doctor, he trusted me and knew what I was was the way it was. He never once said "sorry, I don't see anything on the scans so I can't do anything for you". He always said "I know something is wrong, we just don't know what it is yet". I know if I had many other doctors, they would have given up on me. I am beyond thankful for my doctor, who kept fighting for me.

The last 5 years have been a series of surgeries to put mesh around the Desmoid tissue and keep it at bay. This sadly, only gave me three weeks of freedom for my symptoms and would have a three month recovery due to the amount of surgeries. This seemed like a very high price for only three weeks of freedom. Then things progressively got worse to the point where after my last surgery in December 2019, I was loosing half a pound every day. I just was not able to eat or drink enough. It became mentally exhausting. So we decided to try a feeding tube. In March 2020, I had my Jejunostomy feeding tube (J-tube) placed.

Now, July 2020, I have had my feeding tube for almost 5 months and it has not been without complications. I had issues with granulation tissue as my body was healing from the surgery. The feeding tube had to be placed a second time which created a second hole. Due to Covid19, my doctor didn't want to risk infection due to any leaks from ingesting food or drink so I was nothing by mouth for three weeks until the hole was healed. 

I clean my feeding tube daily, keeping the site dry and flush the tube every three hours to keep it clean and for me to remain hydrated as I have difficulty drinking enough fluids. I complete nightly feedings for 10-12 hours with a nutrition formula I obtain through a home health agency. I obtain about 75% of my nutrition, or 1000 calories, through the feeding tube and about 500 calories from oral ingestion.

The feeding tube has given me my quality of life back. Food now is back in its proper place in life. It's something I can enjoy when it sounds good not something I have to force and get sick from. I feel incredibly blessed.

Jeni LeeAnn obtained a Bachelor's in Ministry Leadership and has served with her church in various capacities for the last 25 years. Jeni particularly enjoys working with her church's female youth as a youth leader.

Navigating and Understanding School Accommodations

I was 9 when I had my first surgery that gave me an ileostomy for 6 years before undergoing a straight pull thru reversal. Throughout my academic career following my first surgery, I required accommodations for my learning due to my physical health. My parents obtained a 504 plan to achieve such accommodations during my middle school and high school years. A 504 plan outlines how a school will support a student and prevent learning discrimination of students with disabilities under the civil rights law Section 504 of the Rehabilitation Act.


My accommodations allowed me unfettered restroom access, use of a private restroom where I was able to keep extra clothing and medical supplies I may need in case of my ostomy leaking or a bowel accident after my reversal, and understanding of absences due to illness and hospitalizations. As I recall it was an easy process for my parents to obtain my 504 plans and I remember my schools being very supportive and understanding from my teachers all the way to the principals.


There are no set rules for what should be included in a 504 plan although schools are required to have written 504 policies available. There isn't any standard form or template for 504 plans. 504 plans are not part of special education and so there are fewer protections than in the special education process. To qualify for a 504 plan a child may have any disability that interferes with the child's ability to learn in a general education classroom. According to the 504 Section, a disability substantially limits one or more basic life activities that can include learning, reading, communicating, or thinking. Accommodations to learning are typically included in 504 plans to address specific challenges to learning - this doesn't mean that there are changes to what a child is taught but how they are taught through removing barriers to learning. Accommodations may include changes to the environment, instruction, or how curriculum is presented. On rare occasions, modifications may be included that do change what a child is taught or expected to learn. 

Every school is different so a full evaluation may be required including medical information and school performance. Requests for a 504 plan must be submitted in writing and should go through the 504 Coordinator - the school principal can direct parents regarding who to contact for their request. A meeting will be scheduled to determine if the child qualifies for a 504 plan and what support may be needed. It is advised to review and update the approved 504 plan once a year. Read a sample 504 plan here.


There are also Individualized Education Programs (IEP) that differ from 504 plans. An IEP is a plan for a child's special education experience in school by providing individualized special education and related services to meet the child's needs. IEPs are covered under the Individuals with Disabilities Education Act (IDEA) which is a federal special education law for children with disabilities. To qualify for an IEP a child requires a comprehensive evaluation and must have at least one of the disabilities listed in IDEA that affects the child's educational performance and/or ability to learn and benefit from the general education curriculum and requires specialized instruction to make progress in school. An IEP must include the child's present levels of academic and functional performance, annual education goals, services the child will receive, timing of services, any accommodations or modifications, how the child will participate in standardized tests, and how the child will be included in general education classes and school activities. An IEP team must review the IEP plan once a year and re-evaluate the child's needs every three years.


504 and IEP plans are only available to children through grades K-12. The Section 504 of the Rehabilitation Act still protects college students from discrimination and college students may still receive accommodations although they will not be provided a 504 plan like in grades K-12. It's important for college students to contact the disability services at their colleges to obtain required accommodations.

Vacationing Amidst a Global Pandemic with Chronic Illness

It's been over a year since I took a real vacation. I took a week off work at the end of 2019 to work on projects for my house, but that doesn't really count. I've been in need of a real vacation, particularly with the stress of Covid19. Work has changed with the pandemic resulting in extra responsibilities and increased exposure to others. I'm always mindful to wear all of my PPE to best protect myself and thus far haven't caught it myself.

Right before Covid19 hit the United States, I started a new relationship and this August we reached our 6 month anniversary. This may not seem like a big deal to many but it is for me. After a devastating divorce in 2016, it hasn't been easy for me to find someone I feel as though I have a real chance for a lifetime commitment with.

We decided to drive to a cabin in the mountains, in the middle of a nature preserve, in Colorado to celebrate our relationship milestone. Travel is not the easiest situation for someone like me who has Short Bowel Syndrome (SBS). I don't let my health stop me from enjoying the activities I'm most interested in but that doesn't make participation in activities easy either. We would be driving for a full day with as minimal stops as possible in order to reach our cabin. This meant I would need to take the appropriate amount of Lomotil medication to slow by SBS and limit my food and fluid intake as well to help us minimize our stops for restroom breaks. However, I have to be careful with the amount of Lomotil I take as it will cause me to have intestinal blockages if I'm not careful and when traveling across the United States there are long distances without any facilities. And remember, we're in the middle of a pandemic and a toilet paper shortage. Not every business will allow non-customers to utilize their restrooms and not all businesses even admit to have a restroom. This not the best situation for anyone, especially for someone with gastrointestinal issues. We stocked up on toilet paper - I think we took about 25 rolls and an entire box of Calmoseptine ointment just to be on the safe side. I was over prepared but it's better to be safe than sorry.

The day we left for vacation was actually easier than the day we came back as my intestine was barely active resulting in a lack of appetite and thirst which helped reduce the number of stops we needed to take especially as there was about 2 hours of travel where there weren't any available stops. On our way back, I wasn't as fortunate although we managed fine. I took 5 Lomotil tablets on our way back but I was regularly hungry and thirsty. I was worried about the distance in between available stops so I frequently asked to stop - about every decent sized town that had a facility. I've also increased my water intake this year and so my body has become more accustomed to feeling thirsty and the need to urinate even if I haven't been drinking as much as I usually do anymore. Wearing a mask regularly when in public spaces to help prevent Covid19 transmission has also increased my thirst making it even harder to limit fluid intake. Any food or fluid intake and movement activates my SBS so any activity involving walking also increases my facility needs.

Me and Mike

We finally reached our small cabin in the mountains and though we had some activities in mind, we didn't have much of an itinerary planned. It was more about relaxing away from home and work for us. The cabin belonged to the parents of my boyfriend's friend - who had just moved to a house within the same nature preserve a couple weeks earlier. We visited with his friend's parents often during our trip - enjoying meals and borrowed their off terrain utility vehicle to explore the nature preserve one day. I made sure to take a roll of toilet paper while off roading as the preserve was large and there were no public facilities. During our visit, we would see deer, big horned sheep, birds, eagles, rabbit, and even a bat that almost hit both of us in the face one night.

We decided to visit the nearest large town and enjoyed visiting its' local distillery, breweries, and winery as well as shopping at local shops before dining at a well known local pizzeria for dinner. We traveled to the Royal Gorge but decided not to cross the Gorge's bridge due to a steep admission price. We were able to enjoy the views from available overlooks.

Royal Gorge, Colorado

Chipmunks in St. Elmo's

We spent another day traveling the back dirt roads (which was a 2 hour trip, again no facilities available anywhere) to Mount Princeton in the San Isabel National Forest and driving to St. Elmo's - a ghost town in the national forest. There are still buildings to view in the ghost town and a small shop that remains open to visitors. There you can purchase seed to hand feed the local chipmunks at the Chipmunk Crossing. The chipmunks were very friendly, crawling all over us and into my purse even. The views and interacting with the chipmunks made this my favorite outing for the week.

I managed well during the day with our activities in spite of my SBS, however, the nights were a different story. Due to increased fluid intake and my Lomotil wearing off in the evenings, I required a significant increase in restroom breaks during the night. There was one day when I required to not take any Lomotil in order to allow my system to return to normal and prevent an intestinal blockage from occurring due to prolonged Lomotil use.

Overall, the vacation was a success and we thoroughly enjoyed ourselves. Colorado is a beautiful state and we were able to social distance from others easily to help reduce our risk of Covid19 exposure. If you're considering traveling during the pandemic, remember to be aware of any relevant state or local mandates of the areas you'll be visiting, bring a mask with you and plenty of your necessary medical supplies. I would also suggest toilet paper (you never know!) Consider traveling to less populated areas to reduce your risk of Covid19 exposure and avoid Covid19 hotspots. Each state of the US has a tourism website with great information about their local attractions and places of interest to help plan an interesting trip. Be safe out there!

Sensory Deprivation Tanks

I've wanted to try out a sensory deprivation tank for years now and this year, for my birthday, I finally went to one.

Sensory Deprivation is also known as Restricted Environmental Stimulation Therapy. A sensory deprivation tank is a float tank that contains Epsom salt (800 pounds or more) in a small amount of water to allow an individual to effortlessly float. Floating in salt concentrated water allows pressure to be removed from joints, muscles, and tendons. The tank is closed to eliminate all sensory tasks including light and sound thereby allowing the entire body to enter a deep level of relaxation and process information and thoughts in a new way without distraction or strain. The water and air are heated to skin temperature to reduce the sensation of water on the skin. Benefits can include reduced joint, muscle, and nerve pain, improved sleep, energy, creativity and mood with a reduction to depression and anxiety. Soaking in Epsom salts helps soothe sore muscles and irritated skin and reduce swelling thereby helping with minor aches and pains.

My boyfriend and I went to a local float spa. Each suite had it's own sensory deprivation tank and
private shower. We were instructed to shower, using their provided products, before and after entering the float tank. The reason to shower before is to remove any oils or body products that would enter the tank water and with hundreds of pounds of Epsom salts, one would want to wash again afterwards to remove the salt water. The tanks could be left open or be closed and offered a blue light that could be turned on or off as well as sounds. We both decided we wanted the full experience and so we turned off the light and any sounds and kept the tank closed. We were offered ear plugs to further reduce sound and help prevent water from entering our ears. The suite and tank weren't completely sound proof but the float spa was kept quiet and soothing music was quietly played in varying areas of the spa. A head flotation device and spray bottle to rinse your eyes of salt water were also available.

We laid with our heads at the end with the blue light and quickly discovered just how buoyant we were in the saturated salt water. We both kept floating around the tank until the water settled from our entering the tank and disturbing the water. Any movement inside the tank would disturb the water resulting in floating around the tank once again. The water felt silky when touching my skin due to the high level of salt. The salt water could cause slight burning to any open skin that was cut or irritated. Protective ointment was offered to help reduce any stinging from the salt water. We started floating with our arms down by our sides, however, we both felt tension in our shoulders and neck in this position. I found stretching my arms above me to be comfortable and my boyfriend remained with his arms down by his sides and stated that eventually his shoulders and neck relaxed after a period of time. We both have neck problems so I'm not sure if the shoulder and neck tension we both experienced was related to our neck conditions or if others would have the same experience. My boyfriend also has chronic nerve pain in his back and lately his knee has been bothersome as well (we've since learned he had a meniscus tear so no wonder his knee was hurting). I noticed completing a full body stretch in the tank was very pleasurable and felt better than typical stretching outside of the tank. My boyfriend reported reduction in pain after the float but was experiencing pain again by the evening time.

I had a difficult time shutting my mind off in the beginning of the float by towards the middle of my float time I was able to experience a meditative state. My boyfriend became so relaxed he almost fell asleep during his float. There are many benefits to meditation and a sensory deprivation float helps to reach a deep meditative state by relieving the body of sensations. Some of the benefits of meditation include to reduce stress, anxiety, pain, and improve sleep. Meditation becomes easier and more effective with practice. I would conclude that this would be the same for sensory deprivation floats as well. Visit here for a list of relaxation techniques you can complete at home.

Overall, we both enjoyed our float experience and would recommend it to others.

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