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Aortic dissection, aortic aneurysm - The aorta - Life after an aortic dissection
Genetic testing or not?
So now that I'm 12 weeks post surgery, they are encouraging me to do some genetic testing. I know that sounds like it should be a no brainer -- but there are several reasons I am hesitating.
Where they want to send my is an hour and a half drive from my house and that is one way. I also know they will want to run all their own health tests and I have had enough of that over the last 3 months already - and not to mention the cost (granted I reached my deductible so the insurance company is covering the rest) - but I don't even know if this would be covered by my insurance.
And they already have tested my aortic tissue for what might have caused my issues in the first place - and they really don't have an answer.
My gut tells me it is just me - it is just what I am supposed to tackle in this life time.
I do have 4 kids so of course there is always the question as to whether I passed something on to them but not sure I want to put them through extensive testing.
It doesn't run in my family and so far my mom and sister have had catscans for other reasons and neither has any aorta issues (which I'm happy about).
I'm kind of to the point of just wanting to move forward. I would have thought something would have shown up in the tests they ran on my actual tissues --- so I don't know what else they would do to pinpoint possible genetic tie in.
What do you think? Have any of you gone through genetic testing?
Cher
Views: 121
Replies to This Discussion
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Permalink Reply by Harry on -
Hi Cher,
How are you doing?
Totally agree about the travelling, I did a 180 mile round trip the other day & it was a nightmare. Next week we are going on holiday & the drive is 300 one way. Needless to say we have agreed plenty of rest stops & all day to travel.
In two minds about the genetic testing as it could make sense. My brother had his aorta looked at after my attack & was found to have a similar risk & is now on BP meds. On the other hand your children are still young, so why rush into it when you’re still healing? Personally I would take some time out and get your health back & then decide, especially when it costs you money.
As for me my voice is still gone & I still have a chronic pain in the left shoulder. That said my stamina is returning & life is on the up at last.
Take care
Harry
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Permalink Reply by Kev A on -
We (family) were supposed to be getting tested after my 'funny turn' earlier this - yet it's nearly been 6 months now and we're having to press and press for someone to get things moving. It's obvious that somewhere there's a problem within the family. (cousin/me and now sister all had or have been diagnosed with the problem) - Frustration.
Harry - my shoulder hurts every single day. It's stronger but no where near 'normal' .... yet
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Permalink Reply by Richard Deal on -
this is where i dust off my fascist overcoat - have no fear, my shower's still connected to the water - but this is something you will have to do some day, so why not now?
genetic testing, or rather sample collection, should be able to be performed at home with a cheek swab kit. so as i see it, you are perfectly within your rights to refuse to travel and make UPS do it for you. i guess you should at least get yourself tested extensively...
the philosophical issue is much more interesting, though... damoclene sword or no damoclene sword - that is the question! how much is it worth to know that it could happen based upon genetic testing compared to that it might happen based on the fact that mom had terrible issues with it? how much of a childhood is it likely to cost either way?
i say if they send you a cheek swab kit, do it. if you have to go to them, do it, but complain bitterly! if they want to do your kids at the same time.... hmmmmmmmmmph - no idea...
take care,
r
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Permalink Reply by Cheryl Kerber on -
You always make me smile Richard --- hope all is well with you. I actually went to an Arborateum today and walked 2 miles which I thought was pretty good considering --- my side got a little tired - dang scar! But even though it's quite windy today and a bit chilly - it was nice to walk outside with all the different trees and smell the fallen trees and such - it was sunny (a little crowded - kind of one of those places everyone gets their wedding picture taken at) - but none the less - going into my surgery in July I didn't figure I'd be up to doing that so soon - so I'm thrilled.
I go in a couple weeks for my follow up catscan and creatinine test (hopefully my kidneys are functioning quite well!) and a visit with my surgeon. I'm hoping I don't get all nervous before hand -- I have high expectations to not ever have to have surgery for my aorta or any other part of my body for the rest of my life. This has been enough :)
The genetics thing I know I should just do - but so far, they have run a bunch of tests on my aortic tissue and blood and so forth, so why couldn't they have just used that? If it's a simple cheek swab -- then I'm fine with that --- but I don't want to have all their tests done (that I've already had done) just because they want it done by their drs and at their hospital. I think I'll call them next week and find out the deal.
And your right -- about my kids --- not sure it matters one way or the other beyond maybe monitoring their blood pressures. To this day - I've got them all stumped. I could just be a fluke. Just like people get cancer without any genetic predisposition --- and my biggest concern is, if I find out that they "could possibly" have an issue -- then is that worse because now it will be on the mind all the time?
So far, all my tests haven't given any clue as to what went wrong. I just know that they are on a seperate medical insurance than me -- and I'm sure genetic testing isn't cheap and I don't have a gaurantee that they'd cover it anyway.
Oh well, one step at a time -- so I'll call Mayo next week.
But how is your life going? Traveling much? I see your wit and humor is the same - yey!
Take care,
Cher
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Permalink Reply by Richard Deal on
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things are ok here. i would like to say good, but i have got this bloody crappy cold coming on and i am convinced that my right kidney (fed from the false lumen with blood that doesn't flow into my legs) might be giving up the ghost and my circulation in the legs is awfully insufficient. apart from that though, busy busy busy!
my doctor doesn't share my concern about the kidney (yet) but i am working on him... the main gist of the story is: when i went back to the uk for a long weekend mum had the bright idea to let her 3 yorkshire terriers out of the house whilst i was getting my case out of the boot (i think you might call it a trunk, but to me a trunk belongs on the front of an elephant, not the arse of a car). needless to say i panicked because i could imagine 3 flattened yorkshire terriers on the road outside the house. in the chaos that surrounded my good intentions, i ended up somehow falling over my case and grazing my knee. that was 10 weeks ago, and now although the scabs are all gone and the skin has closed itself up i am the proud owner of shadow skin. basically where there should be healed skin and maybe a lighter bit of scar tissue, i have dark, almost black scarring. remember, i said grazed my knee - not tore open. so circulation is a worry... the kidney issue is due to my "sedimentary" deposits which are gradually creeping up both legs - but i guess that might be circulation too - either way, it worries me and my doctor needs to do something about it. if not for the physiological benefits and lack of amputation, at least so he gets me out of his waiting room...
we'll see what happens!
r
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Permalink Reply by Cheryl Kerber on
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I agree with you completely in regards to taking care of it on the early end. That was one of my surgeon's recommendation in regards to having my surgery earlier than later. I was probably at the most healthy I would be considering I didn't have any issues yet with my kidneys and so forth, so having the surgery now would give me the better chances of survival and better healing.
I know my kidneys were being fed off the lower lumen also and even though I was okay right then, there was some aneurysm developing in the arteries to my kidneys too ---that's why they ended up doing the gumby kind of graft on me to include my kidneys. I know I was in renal failure for awhile, but thank God my kidneys bounced back.
Surgery isn't like what we want to do -- but we also know in our guts that something is up, and I wish doctors would just listen and not just base everything on blood test results and so forth.
Do you wear compression socks? due to my blood clots after surgery, I now have to wear them especially if i'm traveling for more than an hour.
I don't wear them all the time - but i have to say they do help (like they did today with my 2 mile walk). Obviously our aortas have way more to do with circulation than I thought. The legs are an integral part to that.
Have you had a scan lately to make sure nothing has changed? I thought the catscans showed the blood flow and so forth.
Well, just know I'll be thinking of you -- and don't let up. I knew something was up over the last year. I didn't want to admit it - but it had become more awkward feeling to bend forward - like something was in my stomach --- the catscan showed how much my aneurysm had grown -- so if I had ignored it, who knows how fast it would have continued - or how much more damage could have been done.
Even just a couple weeks back I would have wondered what in the world was I thinking going through another surgery like that -- I'm not exactly fond or comfortable with the muscle buldge I have just under my left rib cage where the incision is. That muscle gets very tired and sore just from trying to hold up my torso ----- but in the long run --- I keep hoping that it was worth all the pain.
Take care,
Cher
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Permalink Reply by Benjamin J. Carey on -
Hi All,
Genetic testing is crucial. Here in the US I've teamed up with Amy Yasbeck and the John Ritter Research program to increase awareness and promote genetic testing. Before John Ritter died here in the U.S. people didn't know much at all about AD. Shortly after John died his brother was tested and found to ALSO have an aortic aneurysm! He had surgery and survived unlike his brother. At the end of the day there is more and more evidence pointing toward a genetic link to aortic disease. I'm not a scientist, but whether it is connective tissue linked, heart linked, or whatever; it seems we must look at everything a little closer. That means all of us should have our children tested at some point, and be more aware. When I think back on some of the "heart related" deaths in my family, it wouldn't be any surprise if there were a genetic link. Back in the day when someone dropped dead from a heart problem, it was broadly labeled as a "heart attack" or "massive coronary", etc..... No one drilled down to see if there were an aortic dissection, and none of the deceased were cut open to see what happened with their ticker. I know one thing; my little cubs are going to get screened! I've been lazy myself about doing the genetic testing, even though i'm promoting it. I promise myself to get it done before the end of the year. We should all do it.
Benjamin
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Permalink Reply by Dan1961 on -
Hi Everyone.
I dissected in 2003 and after getting back on my feet and getting my head around things started to think about the vascular issues that ran extensively through my fathers family.
So i got involved with a study that the university of texas were and are still running.
My immediate family plus aunts and a couple of cousins were tested. My main concern and the real reason i went through the tests is that i have two son aged 27/24 the tests came back and turns out i have a faulty gene within the connective tissue of my aorta.
My sister also tested positive for the same gene and has subsquently been scanned and her aorta is slightly dialated 3.2cm.
Most upsetting is that my eldest son also tested positive for the defective gene.
My youngest son thankfully was clear.
The study went into my family tree and are pretty sure that the gene was passed down from my fathers side of the family tree
The dillema i have now apart from now knowing i passed on a gene that could potentially put my son in the same situation as i am ...or worse.
Is that he refuses to get himself scanned because he's in the military and doesn't want to jepordise or complicate things there ect ect,
I understand where he's coming from and lets face it it's his decision at the end of the day so i keep the fear i have tucked away and keep an eye best i can...which is impossible!!
I'm hoping that sometime in the future he'l get a scan and i will bring the matter up here and there and when the timing's right i'm sure he will submit and get scanned.
He's currently in afghanistan and will be home in the spring after six month tour.
Am i glad i went through with genetic testing? yes and no really.
But mostly yes as now at least we/he are aware there could be a potential life threatening problem in the future that can possibly be stopped before it happens.
Hope most of this makes sense please fee free to ask any questions either here or inbox or email danburge@sky.com
Warm regards to everyone.
Dan.
I should add that i'm from and still living in England even tho the study is being carried out in texas.
All test kits were provided and sent via post free off charge and postage paid for return of test kits too.
I'm sure the study is still ongoing so if anyone is interested mail me and i'll send info to you.
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