Genetic Testing

Hi my name is Debbie I have posted before. I have a ICD implanted in April 2007. I have Dilated Cardiomyopathy and Long Q T Syndrome. I just got my results from genetic testing yesterday, they found genetic mutation that has the potential to cause a familial arrhythmia-causing syndrome.(LQT1). I am still processing it all and not sure how to feel about it. I have 3 children that will be getting tested. My son is 17 and I have daughters 5 and 8 years old. Anyone else go through this testing ?

4 Comments

What a coincidence

by sboissonnas - 2008-01-10 04:01:22

Hi Debbie,

Wow, what timing - I was just about to post to ask if anyone had had the genetic testing done for LQTS! I haven't had it done myself, but my cardiologist/EP really wants me to think about it, so I am. I have mixed feelings about it, as you can probably imagine. I already have a pacemaker and I'm fine with that, but I think he would prefer to give me an ICD just to be safe. (I don't want one.)

If you don't mind my asking, what happens to you now that you know you have Type 1? (I thought Type 1 was the mildest form?) Also, did your insurance cover most/all of the testing? If not, how much did it cost you? (My doctor said insurance may cover up to 75% of the cost, but it would still require me to pay about $1000 for the test - is that what you were told as well?)

My biggest struggle right now is convincing my dad to get evaluated by an electrophysiologist, since we think he's the parent I might have inherited it from (if I inherited it from anybody). If either your parents are still in your life, have either of them been tested?

Sorry for having more questions than answers... I'm sure the diagnosis wasn't what you wanted to hear, but from what I understand about the different types of LQTS, if you want to see any silver linings, I think there are definitely worse variations to have... :-/

Hang in there,
Stephanie

Hi

by Deb - 2008-01-11 08:01:40

Well don't be sorry about the questions I still have a million. Well first the cost is expensive. I am Canadian and we have a special government grant that well pay for certain types of genetic testing. Lucky this was one of them. The test itself was done in the USA and would have cost $5500.

I do have a ICD and am glad for it, I went into cardiac arrest and it took 29 minutes to revive me. Lucky for me my husband was home and started CPR. At least know I know if it happens again I have the ICD.

I can relate on trying to convince family members it for the best to go to the doctor. I have 5 brothers and 2 sisters and it been a job to convince them to go get a simple ECG. I keep telling them that if they did find something it not a death sentence, but that they well be able to prevent going through what I had to. They can stand up and fight it or lay down and die. Me I choose life, I tried the other and didn't like it. Guess that's why I came back lol. We have a long history of heart disease. My father died at 62 of heart failure. I also had a Aunt die at 37 of unknown cause. We know know it was probable her heart. This doesn't have to happen.So this is why they think I inherited it from my father side also. They are going to test my mother still to make sure it isn't her side. Then we well know that it came from my fathers side.

I am really not sure about the different variations. They did say that this mutation they found, that they have never seen it run in families. So they want to check all brothers, sisters my kids. Also my Mother as my father is deceased. I also have 2 brothers with different heart problems and they feel that this could be the underlining cause of there problem to. Well it a log procedure. Not something you get answers for right away. Still a lot to process.

Well hope this helps and if you have more questions ask away. I didn't have anyone to ask that went through this before. I just found this site a month a go.

Thanks!

by sboissonnas - 2008-01-11 10:01:02

Thanks so much for the information, Debbie! Wow, that's a lot of siblings to try to persuade. Have you had any success? I have 4 brothers - 2 already got ECGs when I got my pacemaker and both came back negative. The other 2.. I dunno. (They're all only half-brothers, two from my mom's side and 2 from my dad's, so it could be important that we find out if I inherited my LQTS and from whom). I was the only one who ever had problems, though. (And I still think my problems are tied more to my vasovagal syncope than LQTS, but if the EPs can't even tell, then how will I?)

I think for me the cost is really the biggest barrier to the testing right now. I did some more reading about it and I think I understand how it could help me, but with only a 75% identification success rate, I'm a little leery of shelling out the money only to end up having one of the 25% of causes that aren't detected yet. On the other hand, maybe I don't, maybe it would show that my case is mild, and maybe it would make my EP stop looking at me like I'm about to keel over at any moment. Or maybe the test would show that I'm darned lucky still to be alive right now. Decisions, decisions.

The testing isn't anything other than a simple blood test, right?

Thanks again!
Stephanie

same here

by cristalh - 2008-09-22 11:09:59

im not sure how to feel about it either..i have 3 kids which one is now 2 months old..she's on med and my daughter whom id never taken her to cardiology was also just recently diagnosed with it..i had genetic testing i also had mutations lqt1 so now all 3 of my kids will have to go threw testing..my son hasn't been diagnosed yet..im hoping not, just to think my grandchildren can come out with the same thing..im sorry if im being a party pooper..i think i just had to air that out..good luck to you and yours though..much blessing!

You know you're wired when...

You play MP3 files on your pacer.

Member Quotes

Yesterday I moved to a new place in my mind and realized how bad I felt 'before' and the difference my pacemaker has made.