For the past year and a half I've been experiencing these 'twitches, flutterings, hic-cups, palpitations' feelings in the right side of my chest beneath the breast and to the right. They are not painful but they are extremely annoying. I can actually see that area moving. Sometimes it looks like my breast is doing a naughty dance. After a couple months of this when I went to my doctor for a prescription refill, I mentioned it to her. I don't think she took me seriously. And of course my breast would not dance for her when I wanted it to. Apparently it has a mind of it's own. While I was waiting in the waiting room to be called in it was having a merry time fluttering. Maybe it was shy in front of the doctor, I don't know, but it wasn't co-operating. On the way home in my car it was twitching like it had a tic. A couple more months go by and this irritating flutter, twitch, palpitation is getting more frequent and more noticeable to family members. Come on Grandma, do that again!!! I'm trying to have a sense of humor about this, but it's seriously disturbing to me. I had an appointment with my cardiologist about 3 weeks after my other doctor appointment. It was at Thanksgiving time last year. My cardiologist took me more seriously ( although he also did not detect what I was explaining to him. All was quiet and non-moving) ...until I left his office. But he did have me pick up a heart monitor to wear for the next 48 hours. Every time I felt the movements, I was supposed to chart it. I did. They happened frequently and at different times during the day and night. I also had to chart what I was doing when they happened. I could be eating, sitting, laying down, in the line at the grocery store, watching TV, sitting at the computer, etc. Thanksgiving Day 2008, we returned the monitor to the hospital. Several days later I got the results back. There were no results. My heart was normal ( for me) and not showing anything unusual. So all Winter, Spring, Summer, Fall, and Winter again I keep having these weird movements in my chest/breast. Sometimes I actually went days without anything and it was wonderful! Then it would start up again.
Well..................today was my yearly appointment with my cardiac physiologist. He's the one who replaced my lower lead on my pacemaker/defibrillator last year..... twice. He wanted to see how I was doing since then and had to run some tests on the pacemaker to make sure it's working properly. His associate did the tests and while she was reading the papers that were spewing out from the machine she noticed something unusual on the readings everytime she made my heart race with the testing. My husband noticed something else. He said " Your chest is fluttering". He could see it from across the room. The associate said "FLUTTERING? Where?"
She ran some more of the tests and my chest/breast was doing the Watusi. She actually saw it. To make a long story shorter, it turns out that the upper lead on my pacemaker which sends electrical impulses into my right ventricle appears to be next to a nerve in my diaphragm. When it sends an impulse, sometimes the nerve receives it too, and that causes the jumping around in the right side of my chest. The physiologist turned off that upper lead. It does nothing now. Since coming home, I have not felt anymore movement and it feels GREAT to feel 'normal' again. He is also having me decrease by half, my daily doses of Coreg. I may feel more fatigued but that will be better than those twitches. I'm supposed to call him in 2 weeks to see how I'm doing. If I don't feel any better, then he says the next step will be to go 'in' and replace that upper lead.
I NEVER would have guessed my pacemaker had anything to do with all this.
★Denise★
Showing posts with label heart disease. Show all posts
Showing posts with label heart disease. Show all posts
Tuesday, December 07, 2010
Sunday, May 10, 2009
Clarification On Genetic Testing
I belong to the HCMA forum for Hypertrophic Cardiomyopathy. I received some replies to a post I made back when I got my test results.
Did you know what your Dad's HCM gene was? If not, then your doctor cannot know that you didn't inherit this from your father and that you can't pass it along. In order for him to make this statement, your Dad would have to have known that he had a particular genetic mutation, and then if your sample didn't match his mutation, then you might still have a different HCM mutation.
I think that your doctor is misunderstanding the report. What it probably said is that you don't have any currently identified gene that causes HCM. If that is true, you might still have a gene that has not been identified yet as a gene that causes HCM. Nevertheless, you could still pass along a gene that has not been identified.
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About 30% of the time the genetic testing for HCM will not turn up with a known mutation. That doesn't mean you don't have a familial form of HCM, just that it is not known. It also means that you could pass it on to your children, so an interpretation of the results of the genetic testing by somewhat who understands this is important.
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We can only know if a gene you have is a copy of your father's by looking at your father's genes. Unless there is some tissue of his, or he was tested in the past, this didn't happen. If they reported -- as seems likely -- that you don't have any of the known mutations that tend to cause HCM, that doesn't mean there's no genetic basis for your disease, only that the genetic basis isn't known.
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I had posted the results of the genes tested and the test interpretations and got this reply:
Yes, this says that you don't have any of the known variants (among the three genes they tested) that tend to cause HCM. There are other genes that have variants that are known to cause HCM. But even so, about 40% of HCM patients don't have any of the currently known variants. That means that (a) you have a lot of company, and (b) there is much about the pathways that lead to symptomatic HCM that still isn't understood. That said, you should know that there are actually very few diseases that have as well-known and strong a genetic basis as HCM.
Put differently: the "genetic tests" for HCM just ask a very simple question, namely, does this person have a mutation that we already know tends to cause HCM? If the answer is no, it doesn't say a thing about whether the person has a mutation somewhere else in the genome that tends to cause HCM.
Did you know what your Dad's HCM gene was? If not, then your doctor cannot know that you didn't inherit this from your father and that you can't pass it along. In order for him to make this statement, your Dad would have to have known that he had a particular genetic mutation, and then if your sample didn't match his mutation, then you might still have a different HCM mutation.
I think that your doctor is misunderstanding the report. What it probably said is that you don't have any currently identified gene that causes HCM. If that is true, you might still have a gene that has not been identified yet as a gene that causes HCM. Nevertheless, you could still pass along a gene that has not been identified.
****************************************************************************************************************************************
About 30% of the time the genetic testing for HCM will not turn up with a known mutation. That doesn't mean you don't have a familial form of HCM, just that it is not known. It also means that you could pass it on to your children, so an interpretation of the results of the genetic testing by somewhat who understands this is important.
****************************************************************************************************************************************
We can only know if a gene you have is a copy of your father's by looking at your father's genes. Unless there is some tissue of his, or he was tested in the past, this didn't happen. If they reported -- as seems likely -- that you don't have any of the known mutations that tend to cause HCM, that doesn't mean there's no genetic basis for your disease, only that the genetic basis isn't known.
***************************************************************************************************************************************8
I had posted the results of the genes tested and the test interpretations and got this reply:
Yes, this says that you don't have any of the known variants (among the three genes they tested) that tend to cause HCM. There are other genes that have variants that are known to cause HCM. But even so, about 40% of HCM patients don't have any of the currently known variants. That means that (a) you have a lot of company, and (b) there is much about the pathways that lead to symptomatic HCM that still isn't understood. That said, you should know that there are actually very few diseases that have as well-known and strong a genetic basis as HCM.
Put differently: the "genetic tests" for HCM just ask a very simple question, namely, does this person have a mutation that we already know tends to cause HCM? If the answer is no, it doesn't say a thing about whether the person has a mutation somewhere else in the genome that tends to cause HCM.
Sunday, May 03, 2009
Genetic Testing Results
I went to my cardiologist for my 6 mo. checkup on Tuesday. I'm doing very well and don't have to go back for another 6 mo. Doc just received the results of my genetic testing for the gene that would pass on Hypertrophic Cardiomyopathy to my children and grandchildren, and from how he is reading the results....my HCM is not familial and my family is 'unlikely' to get this heart disease. He still is in favor of them getting periodic echocardiograms however. It also appears that I did not get this heart disease from my father who died at the age of 42 from a heart attack. It was assumed that I inherited HCM from him since he died so young but now it appears that isn't the case. I asked my Doc if I didn't get the gene from my Dad....then how did I get HCM? He doesn't know. Says I must have a mutant gene. I don't really understand this but I'm extremely relieved that I won't be passing this heart disease on to my family.
Monday, February 23, 2009
Genetic Testing For Hypertrophic Cardiomyopathy
This morning I went with my eldest daughter to take her three children to their pediatric cardiologist for their annual EKG and Echocardiograms. They need to be tested because it's a possibility I may have passed a gene variance ( mutation) on to my children and their offspring for Hypertrophic Cardiomyopathy, since this heart disease is inherited.
Jordyn 9, shows no signs. Jonah 5, EKG showed a probable thickening of his heart ( from the spikes in the EKG) but the Echo shows that his heart is fine. Ayden 2, has a heart murmur but she is also fine. Their Dr. is encouraging us to have the Genetic testing done so we are looking into it.
I am termed as the 'index' since I already have HCM. I'm the one who will have my blood tested to see if I'm carrying the mutated gene. 75% of the time it can be identified. Once this happens, then my children, grandchildren and my siblings can also have a blood test done to see if they carry this gene too. If they don't they will never get HCM. If they do, then they will need periodic Echo's. My own HCM didn't show up until my late 40's.
The test cost around $5,000. We're going to find out if my health insurance will pay for this test. If so, I would be required to pay 15% - or meet my yearly deductible. I'm keeping my fingers crossed it's only the deductible.
Jordyn 9, shows no signs. Jonah 5, EKG showed a probable thickening of his heart ( from the spikes in the EKG) but the Echo shows that his heart is fine. Ayden 2, has a heart murmur but she is also fine. Their Dr. is encouraging us to have the Genetic testing done so we are looking into it.
I am termed as the 'index' since I already have HCM. I'm the one who will have my blood tested to see if I'm carrying the mutated gene. 75% of the time it can be identified. Once this happens, then my children, grandchildren and my siblings can also have a blood test done to see if they carry this gene too. If they don't they will never get HCM. If they do, then they will need periodic Echo's. My own HCM didn't show up until my late 40's.
The test cost around $5,000. We're going to find out if my health insurance will pay for this test. If so, I would be required to pay 15% - or meet my yearly deductible. I'm keeping my fingers crossed it's only the deductible.
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