Happy (or unhappy) Rare Disease Day!

Today is Rare Disease Day.  I usually don’t get too excited about it, but this year, I feel differently because of many different reasons.  I have a rare disease called Familial Adenomatous Polyposis (FAP), a genetic mutation on my 5^th chromosome that causes numerous adenomas (polyps) to grow on the colon, among many other dangerous and complicated health problems.  FAP causes a 100% risk of colorectal cancer, meaning every single person with FAP will develop colon cancer if left untreated.  It’s not if, it’s when.  In my family, because our particular genetic mutation codes for a more severe form of FAP, often called Garner’s Syndrome variant, I also, along with my affected family members, carry a 100% risk of small bowel cancer.  At 9, I had hundreds of adenomas (wart-like growths) along my colon, with several in dysplasia – which means they were in the very beginning stages of growing into cancer.  At 34, I had an adenoma in my small intestine right along my pancreatic bile duct that had dysplasia, meaning it was in the early stages of advancing to cancer.  I had surgery for that and ended up with severe pancreatitis for three months, where I was hospitalized six different times to treat the pancreatitis.  As a result the head of my pancreas has for the most part died, called atrophy, and does not function well.  I have permanent pancreatic insufficiency because of that surgery.   Then of course there’s the colectomy at 9, and many other abdominal surgeries, including removal of both my ovaries due to growths on them and removal of an aggressive, locally invasive rare abdominal tumor called a Desmoid tumor, a cause of my disease FAP.  I have had 9 surgeries in my abdomen that are directly caused by FAP. 

I live without my entire colon (large intestine) including my rectum.  I have a rectum made out of my small intestine.  This is the alternative to having an ileostomy – a poop bag on my side.  If I had to have an ileostomy, I’d be fine, but I was able to keep my sphincter muscle and have a makeshift rectum made out of my small intestine.  It’s a consolation situation.  I didn’t have to die from colorectal cancer, but not having a colon isn’t a picnic either.  I have 20 to 30 bowel movements a day, even through the night.  I haven’t slept a single night through the night without toileting, since I was 9 and had my colon removed. 

Why am I telling you this?  Because you probably don’t understand, unless you are my family or a friend of mine from FAP Family on Colontown (a private Facebook community for colorectal cancer patients, survivors, and their family members).  I’ve been living like this since 1984 and most people have no idea what I’ve been through, so why am I talking about it now?  Because I’m sick of hearing about all the useless complaining I hear every day quite frankly, about insignificant things that in the scheme of peoples’ lives, aren’t a big deal.  I’m sick of my disease being something to be ashamed of per society’s fecal phobias - something freakish, and something worth hiding. 

There are no famous people with a chiseled face, a smokin’ body, and a resume of smash hit movies with my disease that are champions and poster children for the cause.  You will probably never meet anyone else in your life with this disease.  If you don’t know my family members, statistically, you will never meet another individual with FAP.  There will be no online campaigns to raise money for my disease like an ice bucket challenge, NFL games raising awareness for my disease, or clothing and retail items that raise money for a particular disease or cancer.  My disease doesn’t benefit from the orphan drug program rewarding researchers for developing new drugs to treat rare diseases.  Nobody wants to research FAP, because there’s not that many of us and we just keep having our bowels hacked out each time we grow more polyps and more cancer and that is deemed acceptable to the medical community.  Most of us stay pretty silent and don’t complain.  We’re used to it.  It’s a lifelong disease that will NEVER go away and the cancer growths will keep coming, so you are locked into having endoscopies, colonoscopies, and sigmoidoscopies regularly the rest of your life, among several other ongoing tests.  If you don’t do this and you become complacent about the disease, you will develop cancer, 100%, not 30%, not 50%, no chance of NOT getting cancer. 

So here’s a truncated list of the negative ways my disease has affected me that I know most people have no idea is an issue:

1.Not only do I have to go to the bathroom all the time – not having your colon and having a prosthetic rectum causes chronic diarrhea and a need to evacuate such a tiny poop holder frequently – but I’ve had to do it in some of the most disgusting bathrooms you have ever seen in your life.  There is no hovering with FAP and no colon.  Hovering is a joke and not possible.  The worst bathroom I’ve ever experienced in the world was hands down in New York City.  I don’t even want to explain it to you. You think it’s so awful you’ve had to hover pee in a porta-potty, well you don’t want to know where and what I’ve had no choice but to go in (and I’m talking number two), and imagine there being no toilet paper too.  That’s an interesting situation to say the least.   

2. Having no colon as a child and learning how to reuse your prosthetic rectum takes months, so accidents happen in your pants, at school.  You never live that down.  You get bullied from it until the day you graduate from high school.  You never live it down.  You never live down being different.  This is not different in a good way. 

3.  You give it to your kids.  This is the best one by far, the best “gift” of FAP.  Both my sweet children have this and they are just as strong as I am.  They truly are the strongest kids I have ever seen and known and they have never complained once about having the disease, not once.  Z has had three abdominal surgeries to deal with his FAP, so far (there will be more in both my kids futures), and Bluma has had five abdominal surgeries from the disease. 

4.  People are ashamed of my disease.  We actually have family, not related to me (that’s as detailed as I’ll get) that are literally ashamed of my disease and my kids disease.  They are embarrassed by it and they are in denial about it.  We cannot talk about it around them because they can’t stand thinking they are associated with this disease, such an embarrassing and compromising disease.  A poop and butt disease, can you believe it?  What must I have done in a previous life?

5.  People think the disease is kind of funny.  People have laughed about the acronym of my disease FAP.  Apparently fap or fapping refers to something that guys do to pleasure themselves and more than one person has thought is so damn funny.  It’s just not.  It’s FAP.  It’s not funny at all.  It sucks.  I can assure you the disease and the acronym for it has existed decades before the juvenile urban dictionary definition evolved. 

6.  You have to watch your kids suffer in the hospital, multiple times.  I’ve spent nearly three months of my life total just sitting in the hospital with my kids.  That’s just their FAP jail time, doesn’t include mine.  If I included it all, we’d be looking at many months in the health slammer.   And no, getting tubes in your kid’s ears or having a pin put in their broken bone does not mean you are an expert, can even relate to what it’s like for me as a FAP parent in any way, or tell  me you know how it feels to watch a kid have surgery.  This is a whole different ballgame, sorry, it just is.

7.  Your get discriminated against for your disease.  Yes, it’s really true.  I personally have stories and I know countless others of those with FAP and ileostomies that have been asked to leave well-known resort pools (because of their poop bag under their bathing suit), had a leakage accident on a plane and were treated with verbal abuse over it by the flight crew, had body searches from TSA because the xray machine detected the ileostomy and they had to make sure it wasn’t a bomb (well it ain’t a bomb, but if you want, it can be a shit bomb if you push on it), and so many others I can’t even list here.  My son’s former private school asked that he not attend school while he had his temporary ileostomy for two months.  This was several years ago.  Most people, even many lawyers, have no idea that ileostomies (a bag that collects poop externally under your clothes) are 100% protected under the Americans with Disabilities Act and you cannot legally discriminate or deny rights or access to those with ileostomies.  My son’s school was very ignorant and didn’t know this.  I had to educate them on this and they were begrudgingly forced to let him attend school while he had his ileostomy.  They have never and would never deny access to school to a physically handicapped child and have welcomed with open arms several students with physical disabilities and medical issues, including cancer, diabetes, and other medically noticeable diseases. However this was different to them and they felt they could shame our family into hiding my son at home while he had a poop bag.  We were supposed to be ashamed too apparently.  Society is compelled to feel compassion only for outwardly visible diseases that are deemed acceptable and that don’t involve excrement or excrement containing organs. 

8.  No, don’t tell me I’m thin because of not having a colon.  That’s not why I’m thin.  I’m thin because I work my ass off at the gym every day and I eat very little and count my calories like crazy.  I have a slow and crappy metabolism like many other people do but I do the work to combat it. 

9.  I get mini small bowel obstructions all the time.  I buy heat packs in bulk and at least once a week have one on my belly to get my bowels moving because some food is stuck in all the scar tissue riddling my intestines and strangling them.  I don’t talk about it ever because it’s just a normal part of my life.  I go the gym to move it out and I strap that sticky heat pack on my belly under my workout pants while I jump around in class.  Eventually, I get my bowels to move again, but I don’t stop moving, working, and living while it’s happening.

10.  When part of your dating ritual is informing a guy you like on the second or third date that you have a serious genetic disease that can be passed on to progeny, you know things aren’t normal.  I had to tell Marcus on our third date about my disease and all my surgeries, because I really liked him and knew that if we got serious, he would want to know because if he wanted to have kids and didn’t want the possibility of them having such a serious, lifelong disease, I would have to be honest and notify him, in case he didn’t want to go any further with me.  I wasn’t wasting anyone’s time.

11.  I live with no rectus abdominis and it is destroying and deteriorating my spine.  I had a massive abdominal muscle tumor due to FAP when I was 11.  The tumor consumed 90% of my entire rectus abdominis and in order to get clean margins to entirely remove the tumor so it would not return, I lost nearly all my stomach muscles, also called the six pack.  I have my lateral muscles, but they aren’t attached to anything and don’t totally function.  Through intense training and exercise regimens the past 8 years, I can do a one minute plank, all kinds of “ab” exercises, and modified sit ups by using my back muscles entirely.  But because of the strain on my back muscles since I was 11, not having front muscles to hold me up and straight, my spine has taken a huge hit and its deteriorating and has significant osteoarthritis and other abnormalities.  My back hurts regularly and I have to stay fit in order to lessen the pain and the deterioration. 

12.  My life is like one of those Crohn’s and IBD commercials where the sad lady misses her kids basketball game due to having to go to the toilet, or can’t eat the dinner with her family because her bowels are bothering her, except, I don’t pity party and I don’t miss stuff, I just run to the toilet quick and run back and I don’t let it affect my life one bit.  There also isn’t a happy little drug at the end of my life commercial to make it all great again so that I can play soccer in the backyard with my kids and feel totally normal again.  There’s no drug for FAP.

13.  I am uninsurable.  Technically not now because of ACA, but that’s going to go away in due time thanks to our wonderful congress.  I live in fear of not having insurance and not being able to afford it.  Lawmakers have been proposing for months to make people like me, pay very high amounts of money for their insurance, amounts that even my doctor husband cannot afford.  I MUST have insurance, or I can’t have my regular scopes, and then I’ll get cancer in my small intestine, 100%, not an exaggeration, it will keep happening and they will keep finding more as my life continues on.  I’m also nearly impossible to insure for life insurance.  I have a policy now, but you do not want to know how much I pay and it’s the only company that would approve me.  They must think FAP is something a man does to pleasure himself.

14.   I will be at war with this disease the rest of my life, however long that ends up being.  I will always have to worry about it, keep it in check, never become complacent, and beat it down the rest of my life.  It reminds me every day it’s here to stay and it taps me on the shoulder several times a day to tell me it’s still a monkey on my back.

I know everyone goes through stuff.  Some things are way worse than others.  I’m not here to say mine is worse than anyone else’s or ask for pity, because I don’t want that and I don’t do pity parties for anyone, including myself.  I want people to understand who FAP people are and what life is like for us.  I am here to say that people like me do exist and although there aren’t many of us and we aren’t cool and visible and vocal, and apparently should be embarrassed, our disease really sucks and it ain’t no picnic.  It’s a beast and you will probably never understand what it’s like.  But maybe it gives you a little perspective to see how pervasive a disease it is in my everyday life and how I just keep moving on in spite of it.