A couple of weeks ago, a reader of my blog sent me a donation. Then her husband ordered one of my bracelets for her for their anniversary. And in the midst of the writing back and forth, I learned part of her story.
Being me, I asked to know more. And I learned something that surprised and shocked me: This woman has a rare genetic condition that results in a 100 percent lifetime risk of developing colon cancer, plus an increased risk of a number of other cancers.
It's called familial adenomatous polyposis.
Jeannie was diagnosed two years ago, at age 29. Here is her story.
I don't have cancer, but I do have a rare hereditary disease called familial adenomatous polyposis, which poses a 100 percent lifetime risk of colon cancer plus increased risk of a myriad of other cancers.
Not satisfied with the care I was receiving initially, I finally ended up at M.D. Anderson for management of my disease. One of the best doctors specializing in my disease is there, and I have been quite pleased with my care thus far. I'm currently wrapping up a clinical trial of how Celebrex works to reduce the growth of colon polyps.
My diagnosis came quite by accident, although there is a strong family history of FAP, but I never paid attention to the family medical history and I had an inaccurate perception that if I had this, there would be symptoms.
It started with a sinus infection, for about four months. The doctor kept giving me antibiotics. Then I switched primary care physicians, and was referred to an ear, nose, and throat specialist. I'd been suffering from gastric reflux for about a year, since my baby was born, and the ENT recommended I see a gastroenterologist.
I scheduled a EGD, where we discovered my stomach was carpeted with polyps. I went home and googled "gastric polyps" and two words jumped out at me, "Gardner's Syndrome," which is another name for FAP. I called my doctor the next day and told him about the family history that I had forgotten.
He immediately scheduled me for a colonoscopy. I was terrified of what we would find, but happily I only had a handful of colon polyps and all were still precancerous. The doctor confirmed the diagnosis and sent me on my way saying he would see me in a year.
It was up to me to figure out what additional testing I would need. Fortunately, I have a wonderful primary care provider who took it upon himself to research the disease. He set me up with a new GI doctor, an endocrinologist, and an abdominal and brain MRI. My local GI doctor referred me to M.D. Anderson, because he does not have the expertise in FAP that I needed.
Jeannie's Family History
My great-grandmother died from colon cancer. I never knew her, and didn't know this until after my diagnosis. I had a very long conversation with my grandmom and she went into painstaking detail of our family history with FAP.
Others were able to avoid colon cancer by having their colons removed.
My grandmom has FAP. She had her colon removed in her early 50s. In 1996 she developed pancreatic cancer, but it was caught early and her doctor performed a Whipple (pancreatoduodenectomy) operation. She is still going strong at 80!
Her two daughters, my mom and my aunt, both developed FAP.
My mom was relatively symptomless for most of her life and was thus undiagnosed for decades. But looking back we see there were signs of it ignored by her doctors. My mom still has her colon, but she is fast approaching the need to have it removed.
My aunt suffered greatly from the various manifestations of FAP. She had her colon removed, but she developed desmoid tumors as a result of the abdominal surgery. These are a rare soft tissue sarcoma. They can take over the organs in the abdomen, crowding them out and can be fatal. They are treated with chemotherapy and/or surgery.
In addition, my aunt developed metastatic pancreatic cancer, and also bilateral breast cancer. The breast cancer was not related to FAP. My aunt died in 2006 from pancreatic cancer.
She had a son with FAP who developed desmoid tumors after surgery and died at age 19 after discontinuing chemo treatment. It haunted my aunt for the rest of her life because she felt he gave up too soon.
My sister was diagnosed with FAP a few months ago. She has not had a colonoscopy yet, so I don't know the extent of her disease.
FAP can present differently in each individual. Within my own family, we are all over the spectrum with varying degrees of severity. With classic FAP, an individual will develop hundreds to thousands of colon polyps and progression to colon cancer occurs by around age 39. With the attenuated form, the individual develops fewer polyps and progression to cancer occurs around age 50. ... Individuals with FAP are at an increased risk of other cancers, including those of the duodenum, thyroid, and brain.
Children with FAP have an increased risk of a rare pediatric liver cancer called hepatoblastoma. This affects only about 2 percent of the FAP population, usually before age 5. Children of FAP patients should begin screening at the age of 10.
Jeannie's Medical Team
I am a patient of Dr. Patrick Lynch, a gastroenterologist at M.D. Anderson. His father discovered hereditary nonpolyposis colorectal cancer, which is called Lynch's Syndrome after him.
I find it comforting that he consults with the patient rather than talking down to the patient. At my first visit, I brought in a medical binder filled with research documents, copies of pathological reports, blood work, and questions. I'm the type of person who wants all the details. I always ask for copies of reports, and I have been known to question a doctor on their decision.
Dr. Lynch respects and encourages this. That makes a huge difference.
The clinical trial I am participating in is the molecular targeting of 15-LOX-1 for apoptosis induction in human colorectal tumors. In layman's terms, the goal is to learn how Celebrex affects colon polyps. See: Jeannie's Clinical Trial
I cannot praise Dr. Lynch without including others who have been instrumental in my care at M.D. Anderson. My genetic counselor Devki Saraiya is very knowledgeable. There are two research nurses, Diane and Valerie, who I can't say enough about. They are only a phone call away, at any time of day or night. The first time I met them, I was surrounded by hugs.
In addition to the clinical trial, Jeannie has annual abdominal MRIs to monitor a non-functioning adrenal adenoma. Her pancreas is included in those scans, which she says gives her peace of mind because her grandmother and aunt had pancreatitis before developing pancreatic cancer. And she has annual ultrasounds of her thyroid to monitor a few thyroid nodules, which a biopsy confirmed are benign.
I was so happy to find this blog. I am currently sitting in the computer room of the Rotary House which is part of MD Anderson Cancer Center. My daughter, who is 15, just completed her 4th colonoscopy today for her FAP. She also is a patient of Dr. Patrick Lynch. He could not be a better doctor. We travel from Tampa, Florida once yearly for the past 4 years to see him as he is the leading specialist and by far the most knowledgable and kind Dr. that we have encountered. We started off by trying to get my daughter into the pedi study with Celobrex, but she had too many polyps. That study has since been suspended. But she is on Sulindac and sees Dr. Lynch yearly.
I just wanted to say how nice it is to see that other people out there are not afraid to talk about this too. I know that it is difficult for my daughter as she is so young and no one seems to "get it".
Thank you
Christine
Posted by: Christine Zak | November 13, 2009 at 07:35 PM