Genetic Testing Bill

Last Thursday we received a bill in the mail from Correlagen Diagnostics where I had my genetic testing done in the early Spring to pinpoint the gene for my Hypertrophic Cardiomyopathy. The bill was for $5,580.
I had been assured that the fee for the test would be waived or I would never have had it done.
Sandy S. who was setting everything up for me took care of contacting my doctors for approval, and my health insurance to make sure they would pay for the actual test which is the $5,580. They approved it. Normally, I would have had to pay 15% of that which would have been around $837 but that was going to be waived. I can't recall now why that was, but that's what I was told at the time. I was just going to make the 'deadline'. By the time Sandy actually got hold of my cardiologist, the deadline had passed but he assured me that it would still be waived. So I went ahead and had the testing done. Tom was very leery about the whole thing. He found it hard to believe we wouldn't have to pay a dime.
My PCP felt that my cardiologist should be the one to 'request' the testing and fill out the paperwork. Sandy sent him the paperwork which was then sent to me and I sent that in along with the blood test to Correlagen. About 8 weeks later I received the results. I never heard anything more until Thursday when we get this bill.

Tom was the one who brought the mail inside and since it was addressed to him he opened it and just freaked out.
He's all red in the face and spitting drool and spouting : " I TOLD you this was going to be a problem!! I TOLD you NOT to do this!! On and on and on and on he went.
I wasn't too happy about getting a bill either, but I was going to call Sandy S. and get to the bottom of this. I told Tom to calm down before he had a stroke. He just glared at me.
I misplaced Sandy's phone number so tried to find it online under Correlagen Diagnostics but didn't find anything. So I went into the HCMA forum and messaged the Support Team to see if they would email Sandy S.'s phone number, as they had many dealings with him in the past and he had a very good reputation. I got a reply the next day that said Sandy was no longer working for Correlagen.
Aw oh.
I really wanted to speak with HIM since he's the one I dealt with but I had to settle for calling the 1-800 number on the billing statement.
I spoke with 'Laurie' and explained the situation. She found my records and did say that Sandy left a notation in them that my fee had been 'waived'. "Then why am I receiving a bill"? Laurie says because my health insurance did not pay. WTH!!! The insurance co. claimed there was no authorization, no primary care physician listed.
I sputtered a good 2 minutes and finally spit out "Sandy said he took care of everything! He is the one who spoke with my cardiologist and arranged to have the paperwork sent to him to be filled out. Sandy told me he spoke with my insurance and they authorized the testing..........................WHAT THE HELL!!!!!!!!!
Laurie told me she'd look into it further and get back to me. She didn't call Friday. She hadn't called by 2 pm on Monday so I called her back.
The insurance company is still saying that the proper paperwork had never been completed. There was no PCP listed and no referral. Laurie was going to make a phone call and get back to me. Yeah right, I thought, just like last week....but 15 minutes later she did call back and told me that I did NOT have to pay the bill. Someone named Al ( forgot his last name) was going to call and tell me the same thing. Not more than 5 minutes later Al does call and tells me that I do not have to pay anything. He did explain that Sandy had never gotten around to finishing up the paperwork. I don't know if that meant he quit, he was fired........I didn't really care, all I wanted to know was that the promise was going to be kept that I wasn't going to have any fees. Al did mention that on 'their end' they were still going to try to get payment from UPMC.......but I would no longer be billed.
I was very calm the whole time talking with both Laurie and Al. There was no need to get upset unless I was told we WOULD HAVE to pay the $5,580. I was actually pretty proud of myself for keeping my cool.
I called Tom on his cell phone and told him I had 'taken care' of the 'bill' and we did not have to pay it, that he needlessly got worked up. No sense in getting spazzed out until we knew what the final outcome was going to be. "Easy for you to say" he said..."you're name isn't on the bill".
I've been through things like this before....you're assured everything is taken care of...then you get another bill.
I make sure to keep the statement and the names of the people I've spoken with.
All's well that ends well.

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.

Genetic Testing

Last Friday I went along with my eldest daughter Deana to take her youngest, Ayden ( 14 mo) to the pediatric cardiologist for a follow up visit. Ayden was born with a small hole in her heart, as all babies are. Usually within a few days the hole closes, but Ayden's has not. It is very small and the cardiologist says there is nothing to worry about unless the hole becomes larger. She doesn't need to be seen again for another year unless there are problems.

In Ayden's medical chart is the family history. Maternal Great-Grandfather ( my dad) , heart disease, died at age 42. Maternal grandmother ( me ) heart disease ( HCM).
The doctor told Deana she would like to speak with the grandmother, not knowing I was out in the waiting room.

I went into her office and she began asking me questions about my HCM, surgery and whether my children had been tested via echocardiograms. All three daughters have been and their echos came back normal. But that doesn't necessarily mean they didn't inherit the disease from me, I didn't start to show symptoms until I was 47 years old. I am now 55. It also doesn't mean that I passed it along to them. The only conclusive way to know is through genetic testing.

To backtrack a little, I had my surgery ( septal myectomy & mitral valve repair) last February 2007. Shortly afterwards, maybe a few months, I had received an email from the HCMA forum letting me know that Genetic testing for HCM was now being done. At that time, insurance companies were not paying for any part of it. The cost was very high at $4,150 for the full DNA gene sequencing and I knew we couldn't afford it, so I deleted the email. Had the insurance covered it, I would have had the testing done, so that the mutant gene that may have passed to my children at birth can be identified. One way or another, my girls would know if they inherited my heart disease. If they did not, then they are not at any risk, and neither are their children. If one or more did inherit the gene, they would need to be closer evaluated and their children would also be at risk. The girls would also need to be tested. Their fee would be much smaller at $250 each but still, at that time insurance wasn't covering it.

Ayden's cardiologist told me that just that afternoon she had attended a seminar for Genetic Testing of HCM. Insurance is now paying all but 15% of the cost. My 15% would be $700. The girl's 15% would be $50. Mine is higher because I would be what is referred to as the 'index case'.

The doctor said the company that held the seminar is called Correlagen Diagnostics and she is going to acquire the paperwork for me to fill out and sign.
When I do that, we'll go from there.

In the meantime, I have been trying to learn what I can. One thing that has come up that concerns me, is what if one or more of my daughters do show that they've inherited the familial gene for HCM. How is that going to affect them for health coverage in the future. Does a 'pre-existing' condition come into effect here, even though right now they don't have any symptoms, but will eventually. Am I putting the cart before the horse?

I plan on going over to the HCMA forum over the weekend to see if anyone there has actually had the genetic testing done and if they know about the pre-existing condition question. Lots to think about.