If this is your first visit, be sure to check out the FAQ in HCMA Announcements. You may have to register before you can post: click the register link above to proceed. To start viewing messages, select the forum that you want to visit from the selection below. Your Participation in this message board is strictly voluntary. Information and comments on the message board do not necessarily reflect the feelings, opinions, or positions of the Hypertrophic Cardiomyopathy Association. At no time should participants to this board substitute information within for individual medical advice. The Hypertrophic Cardiomyopathy Association shall not be liable for any information provided herein. All participants in this board should conduct themselves in a professional and respectful manner. Failure to do so will result in suspension or termination. The moderators of the message board working with the HCMA will be responsible for notifying participants if they have violated the rules of conduct for the board. Moderators or HCMA staff may edit any post to ensure it conforms with the rules of the board or may delete it. This community is welcoming to all those with HCM we ask that you remember each user comes to the board with information and a point of view that may differ from that which you hold, respect is critical, please post respectfully. Thank you

Announcement

Collapse
No announcement yet.

Genetic testing

Collapse

About the Author

Collapse

jenn2112 We frail humans are at one time capable of the greatest good and, at the same time, capable of the greatest evil. Change will only come about when each of us takes up the daily struggle ourselves to be more forgiving, compassionate, loving, and above all joyful in the knowledge that, by some miracle of grace, we can change as those around us can change too. 34 yr old mother of my only child, David Anthony. Life is what happens while you're busy making plans. Stop trying to play God in your life once in a while; it's amazing what you receive when you let go. Find out more about jenn2112
X
 
  • Filter
  • Time
  • Show
Clear All
new posts

  • #16
    Re: Genetic testing

    sorry. I had the same question, and just wanted to tack on a "why?" to your "when and where?".
    and then...why I ask "why?". (nobody seems to as "why" much ).

    didn't mean to sound like I was pontificating; just trying to learn.
    dx'd HCM @age24, (1989) |Gene + |no family history

    Comment


    • #17
      Re: Genetic testing

      It's alright. I didn't mean to come off as harsh. I apologize.

      I really didn't think you were on this thread to ask as well, it looked like arguing
      36 yr old w/ HCM,l novel variant in TNNT2 gene
      2004 diagnosed
      2004 ICD implant
      DX with Low Cardiac Output - Heart transplant in discussion.
      2009 changed to new wireless Medtronic after battery died
      Father passed away 8/2000
      Oldest sister passed age 44 11/2000
      8/21/09 Son born, showing novel variant in TNNT2 gene

      Comment


      • #18
        Re: Genetic testing

        Although we did get off topic of the original posters question a bit .. it is all good.. we all learn from expanded dialogues as we digress a little. Education about all of HCM is important.. for all of us.
        Dx @ 47 with HOCM & HF:11/00
        Guidant ICD:Mar.01, Recalled/replaced:6/05 w/ Medtronic device
        Lead failure,replaced 12/06.
        SF lead recall:07,extracted leads and new device 2012
        [email protected] Tufts, Boston:10/5/03; age 50. ( [email protected] 240 mmHg ++)
        Paroxysmal A-Fib: 06-07,2010 controlled w/sotalol dosing
        Genetic mutation 4/09, mother(d), brother, son, gene+
        Mother of 3, grandma of 3:Tim,27,Sarah,33w/6 y/o old Sophia, 5 y/o Jack, Laura 34, w/ 5 y/o old Benjamin

        Comment


        • #19
          Re: Genetic testing

          Originally posted by jenn2112 View Post
          .. it looked like arguing
          "challenging".

          I should add a sig, maybe, so people might better understand where I'm coming from.
          I haven't done a scientific poll, but it strikes me that the average person here is a: much sicker than me b: getting worse, and c: has a strong family history, and therefore, a lot more reason to be nervous! particularly about others in their families and the unknown.
          I have none of those factors, so my perspective is a little different. Sometimes, what seems like universal or near-universal advice might not actually apply to my sitch, so I kind of have to "probe" a bit to determine if it does or not.
          There were a couple of polls passed around a while back, and I couldn't really participate, because many of the questions "assumed facts not in evidence", and "n/a" was not an option to answer them. Sort of like "when your ICD scar was healing, did it itch? a: a little b: a lot"
          dx'd HCM @age24, (1989) |Gene + |no family history

          Comment


          • #20
            Re: Genetic testing

            Hi Jenn

            The cost of my genetic test was about $3,000. They found that I have 2 mutations. To get each of my children genetically tested it would be priced per gene (so, $1,500 to search for 1 gene in 1 child and another $1,000 to find the 2nd mutation in that 1st child so a total of $2,500 to test 1 child). If you have 1 mutation and 1 child it'd probably cost $1-1,500. These are the cost of Laboratory for Molecular Medicine in Cambridge, MA.

            However, all of my genetic testing is free. Brighman & Women's in Boston set aside $ for patients so they completely pay for the test (no co-pay even). Same with Boston Children's Hospital who will be paying for both of my children's tests.

            So, if you can't afford the high cost of the test you could ask your hospital if they have funds to help you out.

            Chuck - you're near Boston. You could opt to go to B&W and see Dr. Ho. She iss an HCM specialist and genetic researcher who works closely with Dr. Seidman who has been studying HCM genes for decades. Dr. Ho and her genetic counselor have sat down with me, accumulating, hours to educate me on HCM as well as genetics. Similar to Abby's story, I'm happy that I had the genetic testing because 2 mutations were found and although I have no symptoms or family history of the disease I got an ICD because I trust the evidence that suggests that multiple mutations cause SCA along with a 3.0 septum. So, getting genetic testing did change the course of my treatment.
            Also, like Abbey's story, I am the first person with 1 specific mutation. I was motivated to get genetic testing for the sake of HCM research.

            http://www.brighamandwomens.org/cvce...ioDisease.aspx
            Diagnosed during pregnancy age 30, July 2007
            2 mutated genes found in Feb 2009
            ICD Nov 12, 2009
            2 daughters born in '07 & '09. Normal EKGs.
            No known family history of HCM
            In 1995, at age 18, an echo for a misdiagnosed mvp showed HCM but it went unnoticed.
            Still jog and feel no symptoms on most days.

            Comment


            • #21
              Re: Genetic testing

              Thank you for the feedback and info. I am waiting on some information from my recent test results, and may make a trip wherever is necessary for all of this soon.
              36 yr old w/ HCM,l novel variant in TNNT2 gene
              2004 diagnosed
              2004 ICD implant
              DX with Low Cardiac Output - Heart transplant in discussion.
              2009 changed to new wireless Medtronic after battery died
              Father passed away 8/2000
              Oldest sister passed age 44 11/2000
              8/21/09 Son born, showing novel variant in TNNT2 gene

              Comment


              • #22
                Re: Genetic testing

                Hi!
                I think jplante summed it up well. They were able to pinpoint my mom's gene. She did it through the Mayo Clinic as part of a study years ago and I believe it cost her nothing since it was a study. I did gene testing two years ago never thinking I would have the gene since I'd always tested negative via echo and was healthy. I got the gene test back and it was positive. The test cost $250 and was done through Harvard. A month later I had another echo and was diagnosed with HCM. A month after that I saw an HCM specialist who confirmed my diagnosis and a week after that I had an ICD inserted. A year later it saved my life. Had I not had the gene testing I would not have had an echo for just mt normal every three years check. I would not have known I had HCM and would not have gotten an ICD, which saved me when I had v-fib. I credit finding out I had the gene for making me get checked earlier than I would have, which in the end, saved my life.

                We had our boys checked for the gene last year because we wanted to know. We were told to have them checked via echo yearly regardless (they are 6 and 8 now), so knowing their gene status wouldn't change how often we had them checked, but we wanted to know if they didn't have the gene then we wouldn't have to get them echo's at all anymore. It just made sense for us to know. It was $250 for each and they did the spit test. Their results weren't what I wanted, but it helps us know what the future may hold for my boys and to discuss and educate and prepare them.

                Also, I have no symptoms, have a small septal measurement of about 1.3, work out regularly and work full time. I do not think of my HCM daily nor do I feel sick. My hope is, my boys will never know this disease, but now we feel prepared if they do because the gene testing allowed us to do so.

                Comment


                • #23
                  Re: Genetic testing

                  great info!

                  can you tell me more about this "spit test"?

                  J1: I'm "in the queue" to go in to tufts, so we'll see what they say.
                  dx'd HCM @age24, (1989) |Gene + |no family history

                  Comment


                  • #24
                    Re: Genetic testing

                    Chuck,
                    The genetic tests we used had the option of doing either a blood draw or a spit test. I opted to have the blood draw done but because my boys are little I thought that the spit one would be easier and less traumatic than dealing with a blood draw, they were 5 and 7 at the time. So, when we ordered it, I had our genetic counselor at Mayo just order the spit ones. My boys just spat in their vials, I followed the directions and then sent them back to the lab via UPS. Our tests were cheaper because the gene in our family had been pinpointed with my mom, but the initial gene tests to pinpoint a gene is $1000-$2000.
                    -Kaye

                    Comment


                    • #25
                      Re: Genetic testing

                      yeah, mine is 7, so...avoiding trauma is a biggie. Thanks!
                      dx'd HCM @age24, (1989) |Gene + |no family history

                      Comment

                      Working...
                      X