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 5th 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.
