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.

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.

Blood Work Is Done

I finally got the blood work done and shipped off to Correlagen Labs in Boston last week. I'll be 'patiently' waiting for the next 6 weeks or so for the results of the genetic testing.
I normally go to LabCorp for my bloodwork but I was told they don't do work for labs other than their own and the Cleveland Clinic. I had to do some checking around and was finally able have Quest Labs do the draw, but there was a condition - I had to have blood work drawn for one of my doctors THEN they would draw the blood for Corralegen. Luckily I had an old script from Sept. that I kept forgetting to take to the lab, and I used that.

I'm finally getting more used to my CPAP machine. I still prefer the nose mask to anything else I've tried. I wish I could get used to the nasal pillow, I think I'd sleep better if I could.

My eldest daughter joined Curves about 5 weeks ago and lost 14 lbs and 8 inches in that time period but had lost 5 lbs right before that - doing WW. She looks wonderful and credits the Curves workout with really speeding up her metabolism. I'm going to call my cardiologist tomorrow to see if Curves is something I might be able to do.
I know it's a good cardiac workout, but with my cardiomyopathy, I want to make sure it's 'safe' for me.
Tom is concerned because as he pointed out, my dad was given the OK to return to his bowling league and while bowling he died of a 'heart attack'. He was 42 years old and we believe he had cardiomyopathy too since it's genetic and mom's heart was strong and healthy.
One of our neighbors passed away and there was an estate sale this weekend. Tom stopped over and got an exercise cycle, so I'll be using that too. The price was right - free!!

I've not been dieting, I just don't have willpower, but I have been cutting back on my portions and drinking lots more water. My jeans are too big in the waist now and I have to wear a belt. My first impulse was to go out and buy new jeans, but I want to go down several sizes so I'm going to hold off a while yet.
I love my peanutbutter and cheese so have been drastically cutting back on those too. I'll have jelly on my 1/2 bagel instead of the peanutbutter. I've cut back from a whole bagel to a half. Just little things, but they add up.

Will be busy this week catching up on laundry and packing for our Chicago trip. That came up fast. Saturday my daughters and eldest granddaughter and I are driving to Michigan for my nephew's fiance's bridal shower. We'll head home Sunday and Monday morning Tom and I will leave for our trip.

Things Are Beginning To Move Along

I finally heard from my cardiologist. He received the paperwork from Sandy Sokoloff from Corralagen Diagnostics in Boston and will be mailing me the paperwork this week. Sandy will be mailing me the kit that I will need to take along with these papers to a local lab where I'll get my bloodwork done. I asked Sandy what the percentage was for finding the mutant gene that is the carrier for HCM and he said that they find the gene in 75% of the cases. I'm keeping my fingers crossed I won't be in that 25%. It will be a relief to know one way or the other if I've passed this gene on to my daughters or not. I'm hoping 'not' but if any of them have it, at least their doctors will know what to keep an eye out for.

I haven't used my CPAP machine for the last two nights. I've had a real scratchy throat and keep coughing and the air from the machine was irritating me. I'll give it a try tonight.

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.