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Thread: Genetic Testing

  1. #1
    Junior Member
    Join Date
    Oct 2016
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    Genetic Testing

    First, no judgement. If you don't have anything nice to say, keep moving! Second, I am Mild CF'er, DDF508.

    I am wondering what those of you out there did when it came to getting pregnant. Did you do genetic testing? Or were you against it? My husband's family is not sure of Cystic Fibrosis, so were really want to do testing, but lately we have felt like maybe knowing isn't what is meant to be... We are very torn. We will be asking guidance from our pastor this coming Sunday, but I am looking to some of you CF mommies out there on what you and your spouse's thoughts were at this time.

    Next, how hard was it to get pregnant? I am on Orkambi now and have heard the stories of women getting pregnant on it without BC. What all did you try? What worked? What didn't work?

    I know that everyone is different along with situations, just looking for some insight I guess.

    Thanks!!
    ~Krickett

  2. #2
    Super Moderator
    Join Date
    Jul 2007
    Posts
    2,078
    Hi Krickett,
    i sent you a private message!

  3. #3
    Super Moderator
    Join Date
    Sep 2016
    Posts
    135
    Krickett,
    I had posted a message earlier and then deleated it thinking it best that I share it with you privately instead. So I just sent you the message that I posted earlier in case you didn't see it.

  4. #4
    Super Moderator
    Join Date
    Dec 2011
    Posts
    787
    JKJohnson,

    This topic comes up every now and then. A post a few months back was asking almost the same question. It's not been my experience to see people who are considering what to do to be judged by others. Then again I am a little bit Pollyanna-ish in thinking most people are good. This is close to playing God or making life and death decisions and it's unwise to inflict personal beliefs as factual information. Nearly everybody visiting this site is intimately familiar with CF and respects the magnitude of a pregnancy.

    CF as your mild presentation is an indication, that CF is a disease with a broad spectrum of presentation. You know that you easily could have a severe presentation. IMO there is another gene that determines how severe CF is going to be, what regions will be affected. I'm not saying that you will pass on mild CF because of some undiscovered gene, but there's more to CF than the 2 CFTR genes. It comes down to choices. By having your husband tested you will be confirming whether you have odds of a CF baby, or not. What do you want more, to be a mother or to potentially end the prospect of having any child with some probability of it having CF? You can go for in vitro fertilization, assuring you don't have a CFer but you could have triplets or twins unless they have resolved this issue. You don't have to have children of your own. It is possible to have a family with no risk of CF, it comes down to how badly you want a baby of your own and how essential it is to have a family.

    If father to be is a carrier, you could go ahead with a normal pregnancy and have an amniocentesis. If the results are bad, you can terminate the pregnancy and try again, odds are 50/50. I am sensitive to the feelings about aborting an embryo/fetus and have had to face the decisionh. I believe that no woman wants to terminate a pregnancy.

    The choice comes down to beliefs. If you believe that the union of sperm and egg is when it becomes a person, you have a hard decision to make, have a baby with CF or don't. Lots of couples or women make this hard choice for any number of reasons, what you profess in theory may be a different story from the perspective of first person. If you believe that the time a fertilized egg becomes human is later, like at birth, the decision is easier. I have a long lifetime of watching and participating in the circle of life and I have the experience and education to speak on the topic of when we are human life. For all of my qualifications, it is a personal choice, I would be a fool to recommend any course of action for anyone else. I do believe that life begins when a baby shares the same world as the rest of humanity. Once a baby leaves the safe harbor of the womb, he/she begins to feel heat and cold, experience the outside world with the perfect body with untouched and untrained senses. Being human requires that we develop an impression of the world and as a result a sense of self.

    Getting pregnant with CF is potentially more difficult. The natural mucus flowing from the ovaries, into the fallopian tubes and through the cervix can be thick and voluminous. Sperm have a difficult time finding the way in ideal conditions and thick salty mucus could require some assistance.

    If your partner is a carrier, or even with CF, there could be problems with his reproductive health. My Vas deferens were open until sometime in my late 20's. By the time I was in my 30's my sperm count and sperm viability were not good enough to make a baby. My Vas pinched off somewhere in my late thirties. Fortunately our marriage and activities were full of people, we're content being aunt and uncle to our sibling's children, volunteerism, and such. We didn't have the drive to have children through extraordinary effort. I'm all for it if it is what you want. If God and I could discuss whether I wanted to be born again, this time without CF, I wouldn't just say yes automatically. It isn't that simple.

    Best of luck,

    LL
    67yr. old man, DX CF 2002 by sweat test. Heterozygous S1235R revealed by genetic testing in 2003 & 2012 accepted secondary mutation. 7T, 7T polymorphism established to be virulent. Classification review in 2017 remains CF diagnosis.

    Complete pancreatic atrophy, Bronchiectasis, MRSA, osteoporosis, small duct disease, charming personality.

  5. #5
    krickett,

    I have moderate to severe CF. When children came up, I was 30 and in pretty good health (FEV1 about 85%). My husband and I were on the same page with this; neither of us wanted me to be pregnant and have to potentially chose between my health and that of the baby. So we grew our family through adoption. That being said, HAD we chosen to do the pregnancy route, we would have definitely done genetic testing since I have CF and my husband has ashkenazi jewish heritage. Had he been a carrier, we probably would have stopped right there. We both agreed that it wasnt going to happen that we have a child with CF. Having two CFers in the house would compromise both our respective health, and I would not want to do that to my child. Nor would I want the guilt of knowingly passing on such a potentially serious illness to my child when it might have been prevented. For me, that would be very difficult given what I have struggled with. But it doesnt really matter what choice you make with respect to US, the outside world. You and your husband have to make a series of choices that you can live with and makes sense to you. If you are comfortable with it, then thats right for your family. A family councilor or pastor is a great place to help find clarity. Blessings for your journey!!!!!

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