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Abbygirl2 Find out more about Abbygirl2
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  • No HCM!!

    I just thought I would let you all know my son(12 yrs) had his app today with the ped. card. No sign of HCM. His echo and ekg were both fine. WHEW. I have been so stressed out about it.

    QUESTION...His Dr brought up the genetic testing yet again. I was told a few years back that there was no sense in testing me.(I am not up on the genetics of HCM, so you'll have to forgive me). Why would they bother testing me now when they wouldn't 3 yrs ago? He said if they locate the gene, they will then test the kids. Ugh, this confuses me, can someone help me with this please?

    Anyway, I hope you are all having a blast at the meeting and learning alot so that you can come back and share with us. Wish I was there.

    Take care all....
    Pam
    It's not what you gather, but what you scatter that tells what kind of life you have lived.

    Dx in Feb/99. Obstructed. No ICD, no surgeries, no family history. 2 sons ages 14 and 6.

  • #2
    Re: No HCM!!

    Pam, I don't know what the reason would be to make the doctor want to do genetic testing right now. Hopefully someone else would give you their thoughts. I don't know that I would want to have mine tested if it were me. Echos I understand, but I'm not sure I'd want to know my childrens' genetic background.

    Reenie
    Reenie

    ****************
    Husband has HCM.
    3 kids - ages 23, 21, & 19. All presently clear of HCM.

    Comment


    • #3
      Re: No HCM!!

      Great news, Pam! I am so glad for your son's good report.

      Perhaps as they discover more defective genes they are enrolling people in studies again. I don't know, but I guess I would probably like to know if my daughter was at risk or not if it were me.

      Rhoda

      Comment


      • #4
        Re: No HCM!!

        Dear Pam

        I don't know if Canada has some regular testing we don't have here, but in the US, only one place is doing HCM genetic testing and they are only doing it for research purposes, not like a lab at all. You can't go to a doctor here and get an "HCM test."

        And even if you did know that you have the gene, it doesn't change your treatment b/c they haven't been able to find a correlation betwee a gene and a risk of sudden death. And it can still skip generations and it can still mutate. So, as of right now, genetic testing isn't a magic bullet.

        All the kids and you should still get echos every year or get any symptoms checked out. Which would be true regardless of the genetic result.

        I don't know why your docctor is going back and forth on this or if Canada has developed a routine test (um, doubtful as there are ten mutations and 100s of variations on them).

        take care

        s

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        • #5
          Re: No HCM!!

          Hi all,
          Thanks for your caring words and advice. The place we go for treatment is a large center with a Genetics and Metabolism department. I don't really understand their intensions, but will try to get some answers and let you know.

          Thanks again,
          Pam
          It's not what you gather, but what you scatter that tells what kind of life you have lived.

          Dx in Feb/99. Obstructed. No ICD, no surgeries, no family history. 2 sons ages 14 and 6.

          Comment


          • #6
            Re: No HCM!!

            Pam, that's great news about your son! You must be so relieved. My husband and I also were faced with the issue of testing during our days at Sick Kids in Toronto. In the end we decided that the benefits outweighed the risks and had it done.

            It sounds as though you are having a tough go of it lately with your HCM. My offer still stands if you decide to go to Toronto to see Dr. Wigle. We're about two hours from T.O., but by the time you factor in traffic (horrendous) and parking (almost as bad) you should allow 3 hours or more to get there. From our experience, however, I would say it is well worth the trip.

            Abby

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            • #7
              Re: No HCM!!

              Can somone who was at the meeting please update the information about Genetic testing. Unfortunately, I did not catch all the nuances of what was addressed so I do not feel right posting about it.
              Fx

              Comment


              • #8
                Re: No HCM!!

                Felix, I'd have to go back through the notes. I'll get back with ya if nobody else does!

                Reenie
                Reenie

                ****************
                Husband has HCM.
                3 kids - ages 23, 21, & 19. All presently clear of HCM.

                Comment


                • #9
                  Re: No HCM!!

                  Here are some of my notes from the genetics discussion by Drs. Seidman and Ho at the meeting last weekend:

                  * There are 12 genes and over 250 mutations identified to date that relate to HCM.
                  * This genetic mutation can be inherited from a parent or can arise spontaneously. Mutations in sarcomere genes probably account for most cases of unexplained cardiac hypertrophy, but not all.
                  * HCM is a genetic disease- an autosomal dominant one- which means that if a parent has HCM there is a 50/50 chance that a child will have it.
                  * HCM is a diverse disease and it's course can be very different in different families- it is very uncommon for unrelated families to share the same mutation.
                  * Testing is done as part of NIH federally sponsored research at the Seidman lab (Harvard) and is now available through the Harvard Partners Healthcare Genetics and Genomics lab- they had information out at the meeting.
                  * Lab testing is costly (around $3,000) but once the specific mutation is identified in the parent, testing the children is much less expensive ($500).
                  * There are many issues to consider besides cost in deciding whether to pursue genetics testing- ethical dilemmas, benefit to science, benefit to you.
                  * If you get the testing done, and they find the mutation, it means that the diagnosis is confirmed and identifies the specific genetic cause of HCM but it doesn't mean you or your children will ever become symptomatic- around 90% of people who inherit a mutation will ultimately develop HCM.
                  * The hope is that testing will help with earlier identification and diagnosis, possibly enable lifestyle changes, and that future studies of proactive medical treatment of early HCM may prevent the full development of the disease (Dr. Ho's research on late onset is targeted in this direction)- keep hoping.

                  I'm sure this isn't complete- but that's what I took away from the discussion. Hope that helps,
                  Pam
                  Diagnosed 8/2002, Myectomy (CCF) 3/2003, ICDs 2003,2006 (fired once appropriately), FT researcher, wife and mom of 2 boys (17 and 20).

                  Comment


                  • #10
                    Re: No HCM!!

                    Wow Pam! I'm impressed with your notes. Thanks for helping me out here.

                    Reenie
                    Reenie

                    ****************
                    Husband has HCM.
                    3 kids - ages 23, 21, & 19. All presently clear of HCM.

                    Comment


                    • #11
                      Re: No HCM!!

                      Pam R,
                      You are awesome. Where were you when I was going to college lectures?
                      Burt

                      Comment


                      • #12
                        Re: No HCM!!

                        Great work Pam! It was nice to meet you.
                        I'm going to cut and paste your notes into a new thread on the General board. I want to make sure the subject gets its due attention.
                        Fx

                        Comment


                        • #13
                          Re: No HCM!!

                          It was great to meet you (and everyone else) at the meeting. I was really impressed with how informative and enjoyable it was- while at the same time dealing with tough issues around the heart disease that affects us all. Thanks to Lisa and all of HCMA folks for providing us with that opportunity!
                          Diagnosed 8/2002, Myectomy (CCF) 3/2003, ICDs 2003,2006 (fired once appropriately), FT researcher, wife and mom of 2 boys (17 and 20).

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