The strange combination of words couldn’t more suitably capture the essence and purpose of the session. The Genetics Counselling discussed everything about FAP and how my life will be in the future. There are 3 aspects of Genetics Counseling.
1) EVERYTHING GENETICS
Learning about how genetics work and how they are passed down was very informative. I will simplistically explain it here:
The basic understanding of genes is that we get two copies of each gene, one from each parent. Familial Adenomatous Polyposis is detected from the functioning of the APC gene. For FAP mutation to occur, one of the copies of the gene does not work properly or at all. One who has FAP will pass on the working or non-working copy of the gene (50% chance). If your child does not inherit the non-working copy, they do not have FAP. Fortunately, FAP does not skip generations. Out of my fathers siblings, only 2/4 carry the gene. Unfortunately, my father is affected by the gene. From my siblings, only 2/5 of us have been affected. The other 3 have not shown any signs or symptoms of the disease and 2 of those 3 have been receiving regular screening.
While inherited FAP is the suspected cause, the Genetics Counsellor mentioned that the likelihood of lifestyle factors contributing to the “presentation of polyps” is completely unlikely. I like to consider my lifestyle to be somewhat healthy, I eat fresh produce every day and I cycle and walk as often as I can. Although my guilty pleasure is fast food once in a while, and it really bothers me that I cannot pin the “presentation of my condition” on that. I think hearing this from someone in the field was impacting. There really is nothing I could have done to prevent this from happening. Somehow the implausibility of the happening being my fault is not very reassuring. This means I have absolutely zero control over it.
2) RESEARCH RECRUITMENT MEASURE
Like most university affiliated hospitals, the Genetics Counselling session is sort of a recruitment measure as well. By that I mean me, and others like me, are a suitable candidate for research studies. Genetics is such a confusing phenomenon that Scientists are working hard to solve life’s mysteries. And for that, I did donate blood for research. Right now, I am very thankful of the options that I have that were, for lack of better words, provided or supported by others like me who have this disease and who have contributed to research. I hope one day that whatever the Scientists learn about the disease from my genetic contributions will one day change the life and provide more options for other affected persons. This whole experience is overwhelming and really sucks but I am thankful each day that I have options. For having a shitty situation presented to you and not having options would be so much worse.
3) EMOTIONAL SUPPORT
I imagine the Genetics Counselor expected me to be a bit emotional about my future, and I could kind of sense that they were surprised I wasn’t. Each professional I have spoken to seemed upset at how young and lively I am for this to happen to me. I can see each of them right now as I think about each encounter, and they were always looking at me, waiting for me to burst into an uncontrollable fit of rage or sadness, and yet I sat there, each time, calm and collected. Perhaps it is denial. But I am not thinking any thoughts like “oh, this isn’t real,” or “oh, this will go away.” I am thinking “I have an ileostomy surgery on June 7, okay. June 7 is two months away and I have some time to empty out the storage unit and get some cycling in.”
It is not that I am indifferent to the entire thing, it is upsetting, for sure. I don’t know if it is because it was always in the back of my mind when I was a child, and thus the shock and upsetting aspect of the entire thing is accepted. I am not sure. Perhaps it was the massive scream I released following my first surgeon referral (he was the first to explain any surgical options), that I exasperated all emotional response to it. Or maybe it was the small cry I had while I was on the toilet prepping for my second colonoscopy, that I released all current emotional response to it. I don’t know, I have no guesses there.
Perhaps this blogging is helping!
The Genetics Counselor is a great resource for information sessions about rare diseases as well as a resource that can put you in touch with other people who have gone through the surgery. I have requested to be matched with someone who has gone through this procedure because I do have some questions. Mostly, I want to ask for tips on post-op care and expectations (when they were able to go back to work, when they were able to get out of bed, and so on).
What is your experience with this disease?
The next steps for me include:
1) Genetic Testing (2 months for results). Identifying the exact cause of my condition will then allow my family members to test for that specific gene. This is great especially since colonoscopies are unpleasant, a blood test will hopefully encourage those siblings of mine who take such matters indifferently to take this quick test by providing a blood sample.
2) I have been referred by the Genetics Counsellor for a Gastroendoscopy, which is a scoping of my upper GI Tract through the mouth. This is to see if there are any polyps in my stomach as that is common with Attenuated FAP.
Unfortunately, the Genetic Testing that I am undergoing will not change any outcomes for me. I am still set to have the 2 part surgery. The first surgery being a dual surgery, the Ileostomy and the Ileo-Anal Pouch (J-Pouch), when the J-Pouch has healed, the second surgery will be ileostomy-removal.
After an update call to my mother, her lasting words were “your name means Victory, and you will be victorious.”