Showing posts with label Research. Show all posts
Showing posts with label Research. Show all posts

Tuesday, April 2, 2019

Exploration and Rare Disease Awareness in Philly


I recently was provided the honor of serving as a member on the Familial Adenomatous Polyposis (FAP) Patient Advisory Board Meeting in Philadelphia, Pennsylvania and was able to explore this historic town while I was there.


Independence Hall
I arrived on a Thursday afternoon and met with a fellow FAP patient and friend who I had the opportunity to meet in 2017 at the Hereditary Colorectal Cancer Family Day. Our hosts had arranged our stay at the Windsor Suites. My friend and I spent the afternoon and evening walking around Philadelphia. We visited the Independence National Historical Park where we saw the Liberty Bell, President's House remains, and Independence Hall. For dinner we visited the Reading Terminal Market where we enjoyed official Philly Cheesesteaks. The Reading Terminal Market is one of the largest and oldest public markets dating back to at least 1893 where you can find a variety of food merchants, locally sourced produce and meats, and vendors with various items for sale.


Liberty Bell
The following day we joined the FAP Patient Advisory Board Meeting. Janssen Pharmaceuticals and CISCRP (Center for Information and Study on Clinical Research Participation) came together with a local marketing research data collection company to discover the experiences and perspectives of FAP patients and their caregivers. The panel of participants included a mix of 10 patients/caregivers as well as doctors, clinical scientists, researchers and Global Trial Leaders associated with Janssen and CISCRP. It was a unique opportunity to not only meet others living with FAP but also a chance to share our experiences and opinions with these professionals for future clinical trials for FAP.


After the completion of the meeting, my friend and I explored the

Mütter Museum, at the College of
Mütter Museum
Physicians of Philadelphia, which showcases medical history. The museum houses collections of bodily specimens, models, and medical instruments. Among the two story exhibit rooms full of interesting objects, we saw Mega Colon, a colon with FAP, and even slices of Albert Einstein's brain! Photography was not allowed in the museum unfortunately. Outside was the  beautiful and serene Benjamin Rush Medicinal Plant Garden where more than 60 different medicinal herbs grow. Following dinner again at the Reading Terminal Market, we joined a few of our newly met FAP friends to visit over drinks before we all headed our separate ways that night or the following day.





Philadelphia City Hall

It was a whirlwind visit to Philly but it was full of historical significance not only of the United States but also an opportunity for patients and caregivers to make a difference in the future of clinical trails for the treatment of FAP. It was an honor to have our voices heard and to meet an amazing group of individuals fighting their hardest against this disease.

Tuesday, November 21, 2017

FAP and Lynch Syndrome Conference

life's a polyp


The University of Michigan sponsored a Hereditary Colorectal Cancer Family Day this November in Ann Arbor, Michigan. This wasn't the first year for the family day, but it was my first year to attend. I asked my mother, who also has Familial Polyposis (FAP), to attend with me. Although she was reluctant at first to travel the distance for a two-day trip, she was ultimately glad she attended.


Me and my mother, Ina. Travis, Carleton, and his son Kevin
We hopped on a plane on the morning of Friday, November 10 and made our way to Detroit, Michigan where we were warmly greeted by Kevin, a fellow FAPer and advocate for FAP and Lynch Peer Support Group in Michigan. That night we were privileged to enjoy a small meet and greet with fellow FAPers - Kevin, his father - Carleton, and Travis with Hereditary Colon Cancer Foundation.

The following morning the conference started, and we learned about a variety of topics related to Lynch Syndrome and Familial Polyposis. There were an estimated 60 attendees this year - primarily from Michigan. There was a variety of speakers including genetic counselors, doctors of Gastroenterology, Internal Medicine, Surgery, a Dietitian, and Travis.

We learned a great deal of information during this one-day conference. As a child, I had genetic testing completed to confirm my Familial Polyposis suspected diagnosis, but I don't remember ever talking to a genetic counselor afterwards. I visited with one of the genetic counselors to learn more about this area that I hear others talk about frequently. Genetic counselors help individuals gain access to genetic information and technology, genetic testing and diagnosing, and understanding hereditary conditions. They also can help an individual with a hereditary condition obtain testing and counseling for that individual's family members to determine who else in the family may have the condition.

My mother and I weren't very familiar with Lynch Syndrome before this conference. We learned about Lynch Syndrome from genetic counselors at the University of Michigan Cancer Genetics Department and Dr. C. Richard Boland, himself, who found the gene mutations responsible for Lynch Syndrome. It was interesting to learn that there are 5 different gene mutations that can occur to result in Lynch Syndrome and depending on which gene mutation one has, it will vary the type of cancers the person is predominately at risk for developing. Both syndromes have autosomal dominant inheritance meaning an individual has a 50% chance of inheriting the disease if one of their parents also has the gene.

Lynch Syndrome is also known as Hereditary Non-Polyposis Colon Cancer as the colon isn't carpeted with polyps in the 100s to 1000s as is the case with Familial Polyposis. Although both syndromes have increased risk for other cancers, Lynch has a high occurrence of colorectal cancer, endometrial, and ovarian cancers as well as elevated risk for stomach, liver, urinary tract, central nervous system, small intestine, and sebaceous gland cancers. FAP on the other hand has elevated risks for cancers of the thyroid, small intestine, liver and smaller but still elevated risks for central nervous system, stomach, pancreas, and bile ducts.


Adenomas (Pre Cancerous Polyps) can look different
Screening for cancers is essential for adequate care of Lynch Syndrome and FAP and this includes regular endoscopies and colonoscopies for cancers of the GI tract. Doctors John Carethers, D. Kim Turgeon, and John Byrn explained the colon cancer processes, technology, and techniques used for screening, colonoscopy preps, and surgeries involved for those with both conditions.



Adenomas, precancerous polyps, can vary in shape and size which is why the colonoscopy prep is so important to help the doctor properly identify polyps within the GI tract. There are various prep options including drinks, enemas, meal preps, and pills to help ensure proper cleansing preparation.



Michigan Medicine's Dietitian explained ways to help reduce the risk of colon cancer with healthy eating habits and exercise. It was recommended to:
For the best results, your stool should become light and transparent,
like the example on the farthest right
  • Maintain a healthy body mass index
  • Exercise for at least 30 minute a day
  • Avoid sugar -energy dense foods and drinks including alcohol
  • Eat a variety of vegetables, fruits, whole grains, and legumes
  • Limit red and processed meats
Grilling or smoked meats have also been shown to increase risk of cancer as charred or burned meat contains carcinogens. Also, the use of a multivitamin, calcium, and vitamin d supplement have been shown to help reduce cancer risk although should be discussed with your doctor.

As genetic counseling plays an important role in identifying hereditary conditions, it is also important for communicating with one's family members for their own genetic testing. We heard from a genetic counselor and a patient panel about their experiences talking to their family members about genetic testing and the assistance received from genetic counselors with family members.

Travis, with Hereditary Colon Cancer Foundation, shared his experience with FAP and ways to advocate for awareness and education of the hereditary colon cancer syndromes. Dr. Elena Stoffel closed the conference with learning about medical advances to prevent the need for chemotherapy such as immunotherapy and gene therapy.

The University of Michigan, Michigan Medicine Department made registration available for a research study of microbiome identified through one's stool and a genetic registry. My mother and I decided to register for both projects.

The Family Microbiome Project looks at the bacteria among family households - families with and without Lynch or FAP. Although this project is currently enlisting family households, they are interested in individuals for a future research project.

The University of Michigan Cancer Genetics Registry has enrolled approximately 6,000 individuals from 4,700 families. To enroll an individual simply needs to have a hereditary cancer syndrome or personal/family history that is possible for one. Enrollment includes consent, medical and family history questionnaire and potential for a blood or saliva donation for research purposes. One doesn't have to reside in Michigan to enroll. Those registered are also notified of events such as the Hereditary Colorectal Family Day. If you're interested in enrolling or learning more, contact Erika Koeppe by email or calling 734-998-1274.


If you're in the Michigan area and interested in a support group for Lynch or FAP there are two support groups to choose from:
  • Gilda's Club of Greater Grand Rapids - Alice 616-885-6426
  • FAP and Lynch Syndrome Peer Discussion Group - Kevin 734-476-7425
If you're interested in establishing your own support group, read Kevin's tips here: Finding or Establishing Support Groups




My mother and I had a great time attending the conference and would encourage you to attend any future conferences for networking and educational purposes.
It was incredible being in a room with so many others with the same condition at once!

Sunday, February 8, 2015

What FAP Means to Me

what fap means to me life's a polyp

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




Monday, February 2, 2015

One Real Wish and One True Fear: In Support of Cancer Prevention Pharmaceutical’s FAP Clinical Trial

 life's a polyp

This is a guest post by Travis Bray, Hereditary Colon Cancer Foundation.

Growing up with Familial Adenomatous Polyposis (FAP), for me, meant growing up with an intimate knowledge of my own mortality. I never met my paternal grandfather who died at the age of 36, but the legacy of his death was significant. My father grew up thinking he, too, wouldn’t make it past 36 and lived his life accordingly. As such, he, perhaps unwittingly, passed this notion on to me. At 37, I joke that I’m living in ‘extra innings.’ To quote Skip Carey, the beloved announcer for the Atlanta Braves, it’s ‘free baseball’ from here on out.


Travis successfully tackling the terrain at the Canyons

I live my life with one guiding thought…Every day, I wake up and think “Am I enjoying life?” If the answer is no for too many consecutive days, I begin to make changes. Living with a truncated lifespan, or at least the perception thereof, forces me to live in the moment. I don’t have a savings account because the thought of ‘living until retirement’ is foreign to me. Instead, I capitalize on everyday. I appreciate what I have and continuously strive for what I consider the ideal life. It was easy for me to turn my back on my PhD in Chemistry, leave research, and start the Hereditary Colon Cancer Foundation. I scoff at the conventional 60 hour work week and am fine making less money if it means I can enjoy every day more by doing so. 

I should mention here that the perception of a truncated lifespan is a reality I created. The truth is that, with proper screening and treatment, any person with FAP can live well into their 70’s and 80’s. I would have never believed that had Dr. Randall Burt himself not told me so last year! When he did, I went from thinking I’d die in my 50’s to realizing I can die an old man! Dr. Burt gave me in an instant what no other doctor has…20 extra years!  

To further illustrate my approach to life, I learned to snowboard when I was 36 and became an instructor at 37. As I write this, I am working remotely in Costa Rica while learning to surf in the mornings. My wife, Shawnie, and I live an active life with no intention of slowing down anytime soon. As much as I appreciate life and focus on building a life I can enjoy continuously, not just on the weekends, I have one real wish and one true fear. 


Travis working at a local coffee shop in Costa Rica

My one real wish is that I could have had my colectomy at a later age. I was 15 years old when my colon was removed and, as a result, I have a j-pouch that fits in the cavity of a 15 year old boy. Had I been able to wait 5-10 years, my body would have grown and matured more and my j-pouch could have been bigger. Anyone with a j-pouch knows what the effects would be but, in short, it would be really, really nice if I could reduce the number of bowel movements I have daily and extend the time between to, say, 8 hours. 

My deepest fear is that I’ll one day need a whipple procedure. My father, uncle, and cousin all had this horrible surgery and it grossly decreased their quality of life. I link my father’s early death (age 54) directly to the effects of this surgery. My uncle was extremely ill for a year because of a nicked pancreas during the procedure. Its invasive, life altering, and scares the hell out of me.

This wish and this fear are exactly why I, as an FAP patient and Founder/President of the Hereditary Colon Cancer Foundation, wholeheartedly support clinical trials that test therapies which may prevent the effects of this disease. As of today there are several trials seeking to reduce or eliminate the growth of polyps. You can learn more about these by doing a search on ClinicalTrials.gov. If any of these prove to be successful, children might be able to wait until adulthood before getting a colectomy. 

The trial I want to highlight today is Cancer Prevention Pharmaceutical’s ongoing Elflornithine (CPP-1X)/Sulindac clinical trial. CPP-1X is an experimental drug that is showing evidence to reduce polyp growth and Sulindac is a drug similar to common NSAIDS that has also shown evidence to reduce polyp growth but has yet to be approved by the FDA for this use. Why? Because I’ve spoken at length with the founders and I believe in their mission. They used to work on the other side of pharmaceuticals - working on the treatment of cancer. But they came together to form this company for one reason - to PREVENT, rather than TREAT, cancer in people with FAP. As you can imagine, when I heard their story, I felt relieved that someone out there was fighting for us.

Today, this trial is taking place at eight US/Canadian sites and four European sites. Their drug pairing aims to prevent polyps from growing in the colon. Will they alleviate the need of a colectomy for FAP patients completely? That is to be seen. But the 15 year old kid in me would love to see this treatment help other FAP patients wait until young adulthood to need a colectomy. 
CPP makes no statement as to the efficacy of preventing polyps in the small bowel. But the pathway to polyp formation is very similar in the upper and lower intestines and, for this reason, I’m hopeful that the treatment will also be effective for polyps in the small intestine. 

This clinical trial may be the very answer to my one real wish and one true fear. But to know for sure, the trial needs participants. If you are interested in reading more about this trial, click here. If you do participate, we’d love to hear about your experience.
 Email me at TravisHBray@HCCTakesGuts.org or call me at 334.740.8657.

Before I sign off, I want to offer my deepest gratitude to Jenny Jones Bay and “Life’s a Polyp” for giving me the opportunity to guest blog about this trial.

Take care and stay strong! 
Travis Bray
Founder, President, and Previvor
Hereditary Colon Cancer Foundation



Travis Bray was diagnosed with Familial Adenomatous Polyposis (FAP) at age 15 when he underwent a total colectomy with j-pouch. Like most of us with FAP, Travis has had his own trying journey and obstacles that often accompanies FAP. Utilizing his own experiences and skills, in 2012 he founded the Hereditary Colon Cancer Foundation with his wife, Shawnie, to help fill the many missing gaps in care, support, research, and education surrounding FAP.


Shawnie and Travis Bray

Wednesday, August 20, 2014

Anti-inflammatory Diet Progress

anti inflammatory diet life's a polyp

The anti-inflammatory diet study started the 17th so I've been on it four days so far. I've noticed a few changes thus far.

My appetite is decreased, I feel fuller with less food and fewer urges to snack. I've been going to the bathroom more regularly. As you may recall from earlier, I haven't required my Lonox for over three weeks now because I had been very sluggish, even constipated feeling. I still am not requiring my Lonox but I'm not feeling so bloated, sluggish like.

I've lost six pounds, mostly water weight I'm sure. I've lost so much this week that a co-worker asked to be put on the diet too! I did require a potassium pill tonight but my potassium was low at my last lab draw a week ago so I wasn't surprised by the cramping. I'm just grateful I'm not requiring 9 potassium pills a day anymore, those suckers are huge.

Finding foods to eat hasn't been difficult even though it is restricted. I actually have too much food I can eat in my fridge and I'm afraid I won't be able to eat it all in time so I'm being mindful of possible need to freeze some food lol. I was very grateful when my mom brought me some homemade salsa as I'm not allowed store bought because most of it has forbidden ingredients. My frittata wouldn't have been nearly as good without my mom's salsa! I've even told my husband he can't have any of my mom's salsa lol!
The hardest thing to give up though has been coffee. It's not because of the caffeine either. Caffeine doesn't seem to effect me, I drank 11 cups of coffee and then went to bed 30 minutes after my last few cups one night. Didn't have a problem sleeping at all. No, it's more the sensation of coffee, the flavor, the feel of it on my tongue and filling my stomach. Cold or hot, I really enjoy coffee beverages and they've been a nice treat and even a filler when hungry. I miss it :(

I hesitate to say my sleep is better because my sleep goes in cycles since I stopped taking gabapentin and I could just be in a good cycle right now. My energy level hasn't increased but I've been sleeping soundly and not having difficulty falling asleep this week.

Overall the diet hasn't been bad. It's amazing the will power I have to follow a strict diet when it's really important to me. Besides currently, I've only followed strict healthy eating practices for my wedding and professional photographs. Lol. But I would consider research for us FAP'rs to be highly important and I'm appreciative to have been selected for the study.