TTC knowing you could pass on a genetic disorder — The Bump
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TTC knowing you could pass on a genetic disorder

Anyone here deal with a genetic disorder in one of their children, and then agonize over whether to TTC another?
I have three children. My second child (oldest son) has a genetic neurological disorder that causes movement issues.  He is mentally normally functioning, plays, has friends, likes to sign up for swimming, soccer, etc...
But, he will never be able to keep up with his friends.  He wears AFOs on his legs right now, and most likely always will need them.  He has primary dystonia, though we don't know which type. We also do not know whether this is something that we passed on to him (and we just never had any symptom manifestation), or whether it was spontaneous mutation.

SO....  We've decided we're ready to TTC our last one, and that will make it four.  In the back of my mind, however, I feel guilty, knowing that there's a possibility this child could have what DS has. 

I don't and won't know what's in store for DS and his disability until many many years from now.  His progression may plateau and he may live life with just a mild, inconvenient disability.  Or... his progression may keep going and going, and he could live life with a very difficult disability.


Re: TTC knowing you could pass on a genetic disorder

  • We are waiting until we get the results of our sequencing before we decide weather or not to TTC.

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  • Wait, did I write that? I had to read your post twice. DS goes through something similar, and we still haven't got a diagnosis, and he just got turned down for funding for genetic testing. Even though we know that he has a high probability of turning something up. What we don't know is if it's inherited or a mutation. We did obviously go ahead and have other children, and I felt like you, guilty. But we also knew it was going to be years before we got answers (just didn't expect to still be waiting 14.5 years later). It was a risk, but given that his doctors couldn't find anyone else with similar symptoms and lab results anywhere, nor within our families, the odds were pretty low.

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  • So, preggers, can you tell me what made you decide to wait to TTC?  I guess what I mean is, what information from the sequencing would make you decide to not TTC another, and what information would give you the green light to go ahead with it?
  • Gimmie-- what do you know about your son?  Have the docs given you a general diagnosis and you just can't get something specific?  Did any of your other children show any signs of the same disorder?
  • At 1 year old our DS1 was seen by a geneticist.  We did an XLID panel and she said it was "a shot in the dark".  Some of his symptoms were consistent with them but others were a mystery.  We had a LONG discussion about what happens when the results are negative.  I think everyone was pretty convinced they would be negative and we would be waiting around a long time for a diagnosis.

    The XLID panel takes about 4-6 months to come back.  3 months after the genetic visit I got a BFP.  Unexpectedly.

    The next day we got DS1's diagnosis.  Our geneticist went on and on that there was no family history of this and I had a really high chance of it being spontaneous.

    8 weeks later we got the diagnosis that I was a carrier of this XLID.  

    But if the baby was a girl she would have a high chance of only being a carrier.

    12 weeks later, the baby was a boy.

    And at 6 weeks of age our DS2 was diagnosed with the same mutation.

    It causes intellectual disability, physical disability, hypertonia, microcephaly, vision loss, hearing loss and seizures.

    I know DS2 is our miracle baby because had we not gotten pregnant that cycle (unintentionally) I would never have had him.

    We now have an appointment next month to meet to discuss IVF with PGD.  
    To my boys:  I will love you for you Not for what you have done or what you will become I will love you for you I will give you the love The love that you never knew
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  • Toastie. WWWWWWWoW!! What. A. Story. I sort of wish I'd have just gotten "surprised" so that I wouldn't have to make the decision 'yes' or 'no'... because either way I worry that I'm selfish. Selfish NOT to, because in the long run, what am I saying? That I wish I didn't have Trevor? Of course not! Selfish TO do it intentionally, because is it fair to risk "inflicting" it on another child just because I want one more child in my family? Your DS 2 *does* sound like a miracle baby. I guess sometimes being placed in a situation opens our eyes to the fact that it was part of our story all along. I feel like a twit even saying these things when Trevor's condition is mild in comparison. His will only ever affect him physically. It will never affect his mind, or his lifespan. For that I am very, very grateful.
  • Choices, I wondered about that "combination of egg and sperm" thing, because I read somewhere that I have a 50/50 chance with all of Trevor's siblings, regardless of whether it's spontaneous or carried. 

    *checking to see if I can find that reference...**
  • @JackiePedersen the closest dx he ever got were either polymyositis or carnitine type 2 disorder with the carntine being the closest jn description. He has periods of extreme weakness (can range from very sore muscles or on life support and cant move), caused by severe elevations in creatine kinase (ck). His highest ever ck count was over 140, 000. One episode destroyed his kidneys, he's since had a transplant. They've tested him more tkmes than I can even think about so I am completely baffled why he got turned down for funding. Continuing testing him the way they are and he'll cost them ten times what next gen sequencing would.
    None of our girls have shown any sign of what he's got. I watched every sniffle and cough they had, like a hawk. I still watch, just in case.

  • Our situation is different but similar. I have a complex congenital heart defect and as such our children have a 1:10 chance (as opposed to a 1:100 chance in the general population) of having a CHD.  We chose to have children knowing this but also knowing that many common CHD's are far less involved and complex than mine, and some are more so and can be lethal. 

    I think that my DH was far less concerned about this chance because even though I've had 3 open heart surgeries (the last one so that we could TTC) I've been incredibly healthy, shockingly so given my dx.  We did do a fetal echo and will do with any subsequent children and be hyper vigilant after birth to make sure nothing is missed.  I think knowing the "numbers" and having lived with a CHD myself made the choice easier but not without some breath holding moments.  It's also something that we CAN look for, we know what they look like.  Like I said your situation is different, you're still looking for the fingerprint so to speak.

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  • So, preggers, can you tell me what made you decide to wait to TTC?  I guess what I mean is, what information from the sequencing would make you decide to not TTC another, and what information would give you the green light to go ahead with it?

    If the sequencing says that Grant is the way he is because he inherited and our chances are good to pass it along to another child, we would probably look at adoption.

    If Grant got his duplication by random chance, then we would feel better about trying to conceive.

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  • My 11yo daughter has a genetic disease and we were not planning on having any other children and my husband had a vasectomy just a few months after name was born. Well, SURPISE... I'm pregnant with baby girl #2!

    I feel guilty even though we didn't plan for this, but I take great assurance in knowing that God did! (Even though it is basically 100% that this baby will also have the mito DNA mutations as well... We just don't know how she will be affected.)
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