A Potential Candidate

I received a call today.

The genetic testing is back, and they think they have found a “potential candidate.” A link between our three losses. Something that may give a reason or explanation.

They couldn’t say too much, as it’s supposed to go through the clinical team at our local hospital since they are the ones we have been working with and recommended the testing and participating in the research study. However, since we have a living child now, they requested a sample from McLovin so they can test the specific genes involved (rather than whole exome sequencing) and they should help them definitively determine whether this potential candidate is in fact the reason for our losses. If McLovin has the same genetic variant, then it’s not the reason because he is alive and well with none of the abnormalities of  our first three pregnancies. If he doesn’t, then this may be it.

I gave my verbal consent for McLovin’s participation and am now awaiting the paperwork I need to sign along with the testing kits we need to use. We are trying to coordinate obtaining his blood sample (don’t want to drive to Boston and a blood sample is preferred over saliva.) The pediatrician’s office may be able to do it, if not then perhaps the hospital where our pedi is affiliated.

The Husband was a bit more apprehensive than me when discussing McLovin’s participation. I won’t go into his reasons, as it’s his to share as he sees fit and I won’t speak for him here. But if I can get an answer, then I want one. Living child or not, it doesn’t change the three losses and the pain and heartache. And if we can have an answer for our future family planning, then I want it. Not that we’ve ever discussed it, but if it doesn’t come up, I want to make as informed a decision as possible.

So there we are.

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25 Responses to A Potential Candidate

  1. G E says:

    I’ll be thinking of you. I would want an answer, too.

    Liked by 1 person

  2. lyra211 says:

    WOW. That’s big news. Have they tested any tissue from your first three babies? We were able to do microarray testing on the tissue they saved from our daughter… I’m just wondering if they would have more clues that way, along with the clues from McLovin’s sample. I hope you and your husband can find some common ground. Personally, I’d desperately want to know — I can understand your desire. I hope you get an answer.

    Liked by 1 person

    • Yes, we did whole exome sequencing on all three babies along with my husband and myself. So five samples were tested, and McLovin will be six. We did the microarrays on the second and thirds babies, which were both normal, and that led to us doing this more detailed testing. If McLovin has the variant, then it isn’t the answer.

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  3. I almost couldn’t believe my eyes when I read this. You’ve waited so long for this. I’d be like you – need to know. Fingers crossed you get answers that help you make sense of the world.

    Liked by 1 person

    • I know, I was a little in disbelief too! I knew something was different when their email said they wanted to schedule a call with updates and follow up questions, usually it’s just “Sorry, nothing new to report.” I hope we get an answer too. xxx.

      Liked by 1 person

  4. myhopejar says:

    I think I would want all the information too. I hope you get the results quickly and can finally have some real answers. I’ll be thinking about you. ❤

    Liked by 1 person

    • Thank you! Yes, they said the results on McLovin should be much quicker than the previous tests, as it is going to be much more targeted and specific rather than mapping his entire DNA. I do hope that turns out to be true!!

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  5. Mamalife says:

    Wow.. this is so hard. Of course you would want answers, it will give some closure.
    Having said that, even if you find the variant, Id also ask how it can be addressed for any future babies. If there is none, then perhaps whats the point of putting McLovin under the scanner?
    Its hard either ways.. Honestly, I would some answers too… sending you so much love…

    Liked by 1 person

    • As for future babies, I think this will help us make decisions on if we want to continue to grow our family and how. Right now we haven’t talked about it, it seems very far off as McLovin is only four months old. And yes, I want answers – or as much information as possible. Just something other than “You’ve had bad luck three times.” 🙂

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  6. jwhitworth7 says:

    Wow! I’m sure the possibility of having an explanation is something you’ve always desired. I often think about that too with Oliver….like WHY did I go into preterm labor? I would love an explanation. I do hope you will keep us updated and I hope the sample from your son is able to be taken without too much hassle. I can imagine my husband would be a bit apprehensive like yours which is understandable but it sounds like you guys have been able to reach an agreement. Good luck!

    Liked by 1 person

  7. oats21 says:

    Wow, I can’t imagine what you felt when you got that call, the potential to know what may have happened. But I can understand your husband reluctance, even though like you I would want to know – McLovin is here and he is fine.

    Liked by 1 person

    • Nervous, anxious, hopeful, even a bit of excitement that taking a chance on this testing paid off. A whole bunch of emotions. And, that’s right – McLovin is here, and he is fine, with none of the abnormalities of our previous pregnancies. And if it can help give us more information then I am for it.

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  8. Nara says:

    Wow. A lot of feels. I think I’d want to know too, but knowledge is a powerful thing… I felt that with my DNA test. Hope you get some answers. Xx

    Liked by 1 person

  9. Wow. After all this time. I’d want an answer, too. But it must feel strange…
    Hope getting the sample isn’t too hard – and that they are faster this time!

    Liked by 1 person

    • They said it would be just a small blood draw or a saliva sample. They’d prefer blood – hopefully either way won’t be too hard on him. And yes, they said it will be quicker turnaround as they are only targeting certain genes to test this time! Fingers crossed.

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  10. Michelle says:

    How exciting. As a geneticist by training I’m pleased that you are comfortable with the additional test. I am sure your genetic counselor will discuss this, but please do not assume that just because McLovin has a particular variant means that it was not the cause (or a contributor) to your previous losses. Unfortunately, the generic code has an amazing amount of compensation within it — and it is most likely (although not always) a combination of multiple genetic factors that causes the outwardly seen problem. The genetic term for this issue is called “penetrance.” Some genetic issues have full (or close to full) penetrance, like the mutation that causes Huntington’s Disease — there, if you have the mutation and you live long enough you will get the disease (based on current knowledge). Genetic issues with less penetrance means there are other genes that can “compensate” for the mutation and it may be that the outward phenotype (e.g. the inability to grow into a healthy child) is masked by other genes. This compensating gene (or genes) could have been present in McLovin that were not present in your earlier pregnancies. Hopefully the variant at issue has some data as to its penetrance, as that would be very helpful in interpreting the potential impact for future embryos. But please don’t let this complication stop you from seeking whatever knowledge you can gain — my understanding is that ANY mutation can be fashioned into a screening method at this point — so you could gain some piece of mind (more or less useful depending on penetrance) with future decisions. Congrats on hanging in there despite the ridiculous process and becoming better educated as to your future offsprings’ situations.

    Liked by 1 person

  11. RJ says:

    Wow after all that time they think they have an answer. Crazy. I also really would want an answer so I wish you luck in receiving the news. I understand your husbands apprehension, though, as this is a big deal. Hugs to your family.

    Liked by 1 person

    • I know, it’s been a year and a half since our third loss and when we agreed to participate in the testing and study. Now, we have a living son and they may have an answer. It’s so strange because I feel very far removed from those dark days. Thank you for your support 🙂

      Liked by 1 person

  12. Thinking of you. I would want to know too but I understand reservations as well. It’s certainly interesting that they may have found a link and I hope it leads to answers for you and some clarity on the future. On the other hand, You know you can have healthy children as you have done it so don’t let anything stop you from what you want. It would be great if they give you the clarity you have been searching for. I respect you so much and hope for all the best for you and your beautiful family.

    Liked by 1 person

    • Thank you. I was really excited about it Thursday, and now today I feel a bit more reserved and apprehensive. I’m looking forward to an “answer” but also nervous about what it means for the future and if we want to have more children (which we haven’t discussed yet anyway!). I am trying not to worry and take it one day at a time. xxx.

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  13. I’m glad you’re moving forward and one step closer to answers. Can believe it’s taken this long.

    Liked by 1 person

    • I know! It’s been 18 months since my third loss and when we started this process. Funny how 3-4 months turns into 18, now longer as we wait for McLovins results! But he wasn’t factored into the original,equation (obviously.)

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