This week’s blog is written by Dan Shockley, a retired U.S Navy Veteran who served in Operations Desert Storm, Endurance and Iraqi Freedom. In 2012, at the age of 51, Dan received a diagnosis of a rare gene mutation, attenuated familial adenomatous polyposis (AFAP). This life-changing event spurred Dan on to become a rare disease expert and colon-cancer ambassador, sharing his experiences in an effort to encourage and inspire fellow rare disease patients.
Hi Dan, thanks for sharing your story with us. Can you tell us how you first received your diagnosis?
In May 2012, while I resided in Hawaii, I had my first and only colonoscopy at age 51, performed at the Veterans Pacific Islands Healthcare System, Hawaii. The results revealed 100 polyps embedded throughout my colon, rectum and anus. Based on these findings I was referred to a Certified Genetic Counselor at Tripler Army Medical Center, Hawaii, for further evaluation.
My Certified Genetic Counselor initiated gene specific DNA sequencing testing, the results of which would take several weeks to come back. In the meantime I was encouraged to read about the rare gene mutation they suspected I had and type of surgery required. This allowed me to better familiarize myself with what is considered life-saving surgery as well as a life-changing event.
The results revealed adenomatous polyposis coli (APC) confirming the diagnosis of attenuated familial adenomatous polyposis (AFAP), which is an autosomal dominant germline mutation. It is estimated to impact <0.03% of the global population. It’s important to note, Dr. Henry T. Lynch, is credited with the discovery of AFAP. My Certified Genetic Counselor and colorectal surgeon were colleagues of Dr. Lynch.
Where there any treatment options available?
Based on these findings it was in the best practice of medicine to have total-proctocolectomy surgery with a permanent ileostomy – a procedure which removes the entire colon, rectum and anus and forms a stoma using the end of the small intestine to remove waste from your body. I agreed and surgery was successfully performed at Tripler Army Medical Center in the weeks following diagnosis.
Since AFAP will manifest in other organs it requires routine endoscopic surveillance, (e.g. EGD; side view scope and single-balloon enteroscopy). The single-balloon enteroscopy procedure is not available in Hawaii, as a result I was referred to Palo Alto VA Healthcare System, California. That said, I decided relocating to California would be more practical to be closer to routine surveillance and further medical care.
How did meeting Dr Lynch change things for you?
Dr. Lynch visited Hawaii several months after my surgery to conduct lectures on hereditary cancer research. My genetic counselor invited me to attend one of these lectures and I was introduced to him. Afterwards, we sat and discussed my case for 2 hours. In the weeks following my surgery, I assembled a binder which contained my DNA test and pathology reports and brought it along to my appointments. During my meeting with Dr. Lynch, he read my reports and referred to my diagnosis as a unique case of AFAP.
Dr. Lynch is known as the “father of cancer genetics” and “the father of hereditary cancer detection and prevention” for his work identifying cancer syndromes and their patterns of inheritance. He considered me a colleague and we remained in contact through the years as he was tracking my journey. I collaborated with him on numerous article’s I have written about my journey.
How did you cope with processing such a life-changing diagnosis and surgery?
During the 9 week surgery recovery period, my focus was to keep my brain busy. Reaching out to numerous organizations locally, nationally and internationally better prepared me for life as an ostomate with a hereditary colon cancer syndrome. Being an advocate as well as sharing my journey as a source of encouragement and inspiration is important to me.
Seeking legislative support seemed to be a great way to educate everyone about hereditary colon cancer syndromes and the importance of early detection. My mindset was, and continues to be: I tend not to think about things out of my control, what I can control is my attitude. After 5 decades on God’s green earth my positive attitude has brought me this far, why change now.
From the onset, my response was to embrace this condition and adapt to life as an ostomate. Maintaining a positive attitude and having strong faith had a significant impact on my ability to overcome adversity.
I recall an old cliche, it’s been said you can lead a horse to water, however, you can’t make it drink. Well, I discovered you can influence the horse to drink by feeding it salt along the way. My hopes are sharing my story it will serve as a source of salt for those who read it.
You successfully created the first-ever Hereditary Cancer Awareness Week. Can you tell us more about that?
There is limited information on hereditary colon cancer syndromes. March is National Colorectal Cancer Awareness month and it seemed like a good idea to seek sponsorship designating the last week of March as Hereditary Colon Cancer Awareness week. I’ve gained such support through my local legislative member’s, I decided it was a good time to take it to the next level in an effort of establishing a Senate Resolution. Obtaining this resolution is a daunting task and could take years to come to fruition. However, I’m battle tested and ready to lead the charge.
Do you have any final comments?
It was an honor and privilege to serve on active in the U.S. Navy for 22 years. I’m an Operation Desert Storm; Enduring and Iraqi Freedom veteran and was an ambassador for the Navy as I traveled the world.
Now I’m an ambassador for hereditary colon cancer awareness and living by my mantra: Always Forge Ahead with a Purpose! (AFAP!)
In closing, here’s my analogy of LIFE and BASEBALL. What do they both have in common? Neither has a time limit. When a baseball game goes into extra innings, I think of it as free baseball. That said, my life as an 8 year hereditary colon cancer WARRIOR is in extra innings. Therefore, my life is like free baseball.