This topic contains 5 replies, has 3 voices, and was last updated by  V.R. Peterson 1 month, 3 weeks ago.

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  • #19491
     Brittany Foster 
    Keymaster

    I am curious, for those with genetic conditions or for those who have PH in their family with multiple family members, have you ever undergone genetic testing?

    A few years ago I did genetic testing when I was thinking about the option of using a surrogate to have children. I was going to freeze a embryos. Before we did that, my fertility specialist suggested genetic testing to isolate the gene that was causing many of my physical conditions including congenital heart disease and my hereditary sacral and spinal condition. We knew that the spinal condition ran strongly in my family and after I did the testing we found out that a specific gene and chromosome 7 was effected. This chromosome had impacts on my development of my vascualar system, breathing, heart disease, neurological impact from my spine, etc.

    In a way, getting the results back was a good thing because it showed how fast science has advanced to be able to explain my symptoms and why my body is the way it is. I found out that the condition I have is autosomal dominant meaning there would be a 50/50 chance of me passing parts of it down to a child. Personally, I didn’t want to take this risk and we decided that freezing embryos would not be in our best interest because it would also not be worth all the hormones I would have to take (I later found out that I wouldn’t be able to take them anyways)

    Have you had genetic testing either for your PH or for another hereditary condition? Is this something you would be interested in if you were offered the testing to find out?

  • #19500
     Colleen Steele 
    Keymaster

    Brittany, we did genetic testing on both boys but the results came back idiopathic. This was almost 10 years ago and honestly, I think we should re-do it for peace of mind. My son who had PH decided years ago that he will not have children. He doesn’t want to take the risk. He worries a lot about his brother and children that he might have. He’s told me that when his brother has kids he is going to be after him to have his kids tested early to make sure they didn’t inherit PH. He really worries about it a lot.

    I’m very sorry for how PH has affected yet another important part of your life. It’s so not fair. I don’t blame you though for not wanting to take the risk. My son feels the same way and would greatly sympathize with you.

    • #19523
       V.R. Peterson 
      Participant

      Colleen, my son also had all the genetic testing, both for PH and CTEPH. He doesn’t have any genetic factors contributing to the clotting, which is what caused his PH. However, like your son, mine has not to have any biological children. Since both he and his wife want children, they’re going to adopt. I just hope when they get to that point, they give me enough time so I can do lots of knitting for the new arrival. 😊

      Edit: Nobody else in the family has had genetic testing.

      • This reply was modified 1 month, 3 weeks ago by  V.R. Peterson.
      • This reply was modified 1 month, 3 weeks ago by  V.R. Peterson.
      • #19527
         Brittany Foster 
        Keymaster

        I would also be looking into adoption if the time came for my boyfriend and I to do this and I felt like I was at a good place with my health to take care of a child. As of where I have been currently, it is sometimes hard to see this as even being an option for us. I would never want to put my child in a situation where I would be gone a lot for surgeries or leave my boyfriend to care for the child alone in these circumstances. It is really a personal decision and one that is hard to make especially because things with my health are just so unpredictable. I have been having more bad months than good months lately so I feel like that is also clouding my judgment at this moment in time. It changes so much from year to year and I go back and forth on it a lot. Is your son thinking of private adoption and having a newborn child or is he going through the public systems like DCYF ? I have looked into private adoption and many agencies that I have viewed require marriage for at least 2 years before starting the process. I am not even engaged yet so I have a ways to go until any decisions like that are made! I know it can be such a long process though and the wait for it must be really hard . Sending lots of positive thoughts to your son and his wife too.

      • #19532
         V.R. Peterson 
        Participant

        They’re looking at private adoption. They haven’t started the process yet, because he likely needs to have more BPA (Balloon Pulmonary Angioplasty) procedures to widen the clotting and scar tissue the surgeon couldn’t remove with the PTE surgery. They don’t yet know how many BPAs he will need to have to bring the pressures down to normal. It’s almost there, but not quite.

  • #19505
     Brittany Foster 
    Keymaster

    Colleen,
    I understand this worry too. My mom’s brother actually died from a heart condition at only a few days old. They didn’t really talk much about genetics when my mom first had all three of us but when we started seeing that there was so much going on with my health they immediately started testing my sisters when they were born. This was also before genetic testing before they could see if a child would have it BEFORE any implantation happened or before a child was conceived. Now it’s so amazing the things they can do. If they are able to identify a gene at some point on your son they can actually test the embryos to screen for it if that is something he was ever interested in. I’m sure there will be even more advances by the time he is ready to think about children of his own. I totally understand the worry though and even when my nephew was born I was right on top of my sister about letting them know about CHD and our conditions with our spine. I just would NEVER want a child to go through what I did and it would probably crush me to see any of my younger cousins or future nieces/ nephews going through it. The phenotypes that can present from the genetic defect are so varied. Like I said it ranges from serious heart and vascular conditions to something like bowel issues needing chronic laxative use.

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