APC Gene Mutation

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july181998

APC Gene Mutation

Postby july181998 » Mon Sep 18, 2006 5:42 pm

Hi All,

I haven't posted in a while. Today, I received the news that I have the APC Gene Mutation, which means that I have what is called Attenuated Familial Adenomatous Polyposis (AFAP). My genetics has given me three options, from having yearly colonoscopies, having a partial of my colon removed, or the entire colon, however; she stated that with the removal of my entire colon I will have lots and lots of diarrhea. Friday, I have an appointment with my primary doctor. I need to know if anyone knows of any good colon rectal surgeons in Chicago, Illinois. I have HMO, so I will have to get a referral from my primary doctor. Also, I will be having my children tested ages 12, and 11. I've asked my genetics if she would work with me once I find the colon rectal surgeon as far as the options she had mentioned to me and she said yes, that she would do everything to make sure that I get the best treatment. I'm looking to do this in a couple of weeks hopefully, depending on if I can get the time off of work. For those who have had this type of surgery how long is the recovery? and for those who carry some type of gene mutation, how are you dealing with it?

Thanks,

Ann

kristinkatelynn

Postby kristinkatelynn » Fri Oct 13, 2006 12:31 am

It sucks to find something like that out.. I have HNPCC, and while I was waiting on my results, I was very confident. I really wasnt worried, and didnt think it would be a big deal one way or another. But when they gave me the news, something changed..I was very depressed, uncertain, and powerless. I have since shifted back towarde the positve, and I just try and put in the back of my mind.

Today I got the news from my sister that the oncologist she saw today felt she should have had a total colectomy, not just a hemi-colectomy..She had colon cancer stage 2 in 4/06 and had a hemi-colectomy at that time.-she is 27... From what I have read about FAP, they recommend having a total colectomy....

See the risk with HNPCC is that many didfferent organs can be affected and are at a greater risk of having cancer-uterine,ovarian,pancreatic,stomach,kidney,ureter,colon,etc.....They are also rec. she have a total hysterectomy...

I suppose all that we can do is be very thankful we have the information to try and be proactive and that medicine will continue advancing.....

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cynnycal
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Postby cynnycal » Fri Oct 13, 2006 8:56 am

Hey Ann,
so sorry to hear about your findings. but at least you know. I have FAP, and my father had it, but he didn't know (this was 20 years ago) and he also neglected to really get himself checked out when he wasn't feeling good. he sorta ignored doctors.
he died at 36 from it.
so really, its good that you know what you have to fight.
i just had my entire colon removed. (rectum, sphincter, anus everything) and i have a Kock pouch now. But that was b/c the tumor that was already growing was in a spot that left me sorta without a choice. Alot of FAP people do really well wit a surgery known as Jpouch (you can go to j-pouch.org to find all about it)
i'm a little over two weeks out from surgery and i really don't feel too bad at all. i mean, my back is sore, but the actual incision and all that, doesn't really hurt too bad. i just have to take it slow for a bit.
anywho, i wish you lots of luck, and remember even when you have your colon removed (which ultimately is really the best option) you always have to monitor the rest of you (stomach, duodenum, etc) with endoscopies.
but it is a livable condition, so don't worry.

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cynnycal
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Postby cynnycal » Fri Oct 13, 2006 9:00 am

also, if you're interested, you may want to put yourself on the inherited colon cancer registry at cleveland clinic. i believe its one of the largest registries in the country.
i believe you can find it here:
http://cms.clevelandclinic.org/digestiv ... .cfm?id=52

July181998

APC Gene Mutation

Postby July181998 » Sat Oct 14, 2006 9:45 am

Hi Cynnical,

Thanks for replying. I was beginning to think that I was the only person on this board with the APC Gene Mutation. It's really good to speak with people who have already experience what I'm going through. I don't have cancer, but my sister passed away in 2001 at the age of 28. In 2001, I scheduled my first colonoscopy, and yeap, I had polyps. I've had colonoscopies every since then, and all of them, I've had polyps. After my last colonoscopy, which was in March 2006, I decided to get tested for the gene. I had already had my life insurance in order since 2000, and so that was a blessing. Deep down inside, I knew something was wrong with me. My father died from colon cancer in his 40's, however; I am not sure if he had AFAP, FAP or HPNCC. My mother had asked my father's doctor if this would affect us (this was in the 1970's) and he said no. Well I really wish I knew where that doctor was today. I'm sure if my mother had knew that this would have affected my sister today, she would be living today to see her three children grow up. I'm 100% sure that I will be having my colon removed the beginning of next year. I really want to wait until all of the holidays are over. What I'm really concerned about is having a permanent bag, but I'll see once I talk to the surgeon. Well, I just want to say that I'm sorry to hear about your father, and what your now going through. Did you know your father had FAP? and at what age did you begin having colonoscopies? What is the recovery time with this type of surgery? and what type of treatments will you have going forward? Again, it is so good to finally talk to someone that can truly relate. Keep in touch,

Ann

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cynnycal
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Postby cynnycal » Sat Oct 14, 2006 11:45 am

Hi Ann,
you know, i try not to be too bitter about doctors not really knowing or taking this stuff seriously.
i mean, my dad died at 36 of it, and this was in 1986. they immediately had my 16 yr old brother tested, but they said my mom doesn't have to worry about me, b/c i was a girl, and they thought it wouldn't affect girls i guess.

i got my first colonoscopy this past february (i was 25). and that was b/c i insisted on it. i knew my dad died of it young, and i just had this sneaking feeling something was wrong.

you may not have to wear a permanent bag. most FAP patients do really really well with an operation known as J-pouch. Most people who find they have it early enough (and it hasn't developed to cancer like mine has) can get the jpouch. where they essentially take your whole colon out, but pull down your small intestine and form a small "pouch" out of it (on teh inside) and attach it to your rectum. so you basically are 'normal' to the outside world. you still use the bathroom out of your butt, instead of into a bag on your stomach.

i just couldn't get that operation b/c the tumor was too close to the sphincter muscle and so they couldn't preserve the sphincter. and you need that for the jpouch to work or you wouldn't have any control

just get a good surgeon, and you should be just fine. it's good to be proactive about this.

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cynnycal
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Postby cynnycal » Sat Oct 14, 2006 11:51 am

oh! and i almost forgot, you're near chicago?
I live in chicago, and i know the top three colorectal docs in teh city (had appointments with all of em before i decided on my current surgeon.)

they are:

Dr. Theodore Saclarides (he's THE man here. i love him, and he's who i finally picked as my doctor. he has an awesome bedside manner, and is probably the best in the city.)
find out more about him here:
http://www.usurg.com/profiles/DrSaclarides.htm

the two others are:

Dr. Steven Stryker: http://cgi.photobooks.com/scripts/troll ... 1&keyword=

and

Dr. Herand Abcarian:
https://secure1.hospital.uic.edu/doctor ... 2315&ofid=

i've met them both. they're okay. all of them are very very good at their jobs.

good luck!
b

july181998

APC Gene Mutation

Postby july181998 » Sat Oct 14, 2006 3:40 pm

Hi Cynnycal,

Thanks for replying so soon. Yes, I live in Chicago, and my genetic counselor has given me four names of board certified colon/rectal surgeons in Chicago. I don't have the list in front of me, but they are Unversity of Chicago, Cook County Hospital, Northwestern, and Illinois Masonic. However, my primary doctor said he was going to look into the board certified surgeons for me as well. By the way, if you don't mind, I'll will give the list of surgeons you provided to my primary doctor to see if he knows anything about them. That's really helpful just in case I don't like the others. So where did you have your surgery at, and what type of insurance do you have? I have HMO and its terrible. Also, how long is the recovery time from the time of surgery? My main concern is having to be off of work more than three months. I also have two children ages 12 and 11 which will be tested for the gene. They have a 50/50 chance. I am praying that they don't, but if they do, I'll know what steps to take for them. I am truly happy that I've found this board.

Ann

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cynnycal
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Postby cynnycal » Sat Oct 14, 2006 6:16 pm

Hey
(well, i'm recovering, so i have nothing better to do then sit on the computer AAALLLLL day! hence the quick replies, hehehehhe.... :wink:

anywho, i actually had my surgery at the Cleveland Clinic. They're world reknown for treating this, and b/c i wanted whats known as a Kock Pouch, they only do them at a few select places, and Cleveland clinic is one of them.
The surgeon is pretty famous for this (and other) surgeries and working with FAP patients, his name is Dr. Victor Fazio.
but my surgeon here, Dr. Saclarides, worked with Dr. Fazio at cleveland, and he referred me to cleveland b/c he knew he woudln't be able to do the surgery i wanted.
i have a PPO, it sucks, but one of the good thigns is i can self refer.

i don't know about the illinois masonic surgeon, but i know my doc is at Rush University and teaches this procedure to others and has written several books and reports on colorectal disorders, specifying in cancer and hereditary disorders.
that's why i felt so comfortable with him.
he even is on their tv commercial! heheheheh....

anywho, it's really a matter of who you feel comfortable with. meet with all the surgeons you can, get all the opinions you can, tell them your concerns, see how well they address your quality of life after surgery, your body image, your long term survival, etc.

its a very personal decision picking a surgeon, especially when you're doing this as a preventative measure. i was in a bit more of a dire situation i needed surgery and treatment ASAP.
while you still need to have it, you have a bit of luxury in that you can meet with several doctors and determine which direction you want to go.

good luck with it all!

the surgery is generally like 6 to 12 weeks to recover. it depends on all what you have done. a jpouch surgery is usually done in two steps. step one they remove your colon and you do have a temporary ileostomy for usually about 2 or 3 months. then you go back in and have the pouch connected and the ileostomy closed up.

it's not as bad as it sounds really. i'm two weeks post op (actually a tiny bit over two weeks) and i really don't feel too bad at all. i am not going back to work yet, but i am up and about. i go out to lunch with friends, and i'm going to an art show today. i'm flying back to cleveland next week for a follow up visit, and i feel just fine to do that.
you will be out of work for a little bit, that was also a huge concern of mine, as i only work parttime to begin with. but alot of my friends and family have come together to put fundraisers together for me to help pay my medical bills as well as my living expenses when i can't work
(you can check out my website at www.cancer-sucks.com )

anywho, i'm sure you will do just fine. as recovery also depends on how healthy you are going into the surgery. and you have the benefit of probably being pretty normal all things considered as opposed to alot of patients who have the surgery b/c of things like Ulcerative colitis and Crohns disease where they may be on heavy steroids for long periods of time before hand.

i'm sure it will be a challenge, but you will do just fine.

where in chicago do you stay? i've grown up here and absolutely love my city! good to meet another chi-towner!

b

july181998

APC Gene Mutation

Postby july181998 » Sat Oct 14, 2006 8:42 pm

Cynnycal,

Thanks for the words of encouragement. I live 10 minutes away from Beverly between Chatham and Roseland on the south side of chicago. I acutally go in to see my primary doctor on next Saturday and within the next couple of weeks, I will be interviewing the colon rectal surgeons, and hopefully I will be successful and picking the right person for the job, since this is something I will have to live with for the rest of my life. I will update you as I gather information from the surgeons.

Edward
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AFAP

Postby Edward » Tue Oct 17, 2006 11:49 am

I was told by my genetic counselors based on family history they are looking at AFAP.....I will keep you posted.
Livestrong,

Edward
Colon Cancer Class of 2002
http://www.coalregionvoice.blogspot.com/

july181998

APC Gene Mutation

Postby july181998 » Wed Oct 18, 2006 3:42 pm

Thanks Edward.


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