Heartache and Hope

Have you ever seen more adorable siblings?


Big  Brother has been in quite a serious mood today, and little brother/sister (???) is all about his/her hands being all over his/her face. We may have another thumb sucker!

We had our 20 week anatomy scan this morning, but before the ultrasound, we met with a genetic counselor. I now more clearly understand the specifics of how Grayson could have inherited Leigh’s Disease. Most likely, it is recessive inheritance, meaning he got one copy of the defective gene each from Ryan and me. This means any children we have will have a 25% chance of having the disease. But this also means a 75% of any children not having it. I want to be completely optimistic and hopeful about that 75%, but 25% still seems so high. And it obviously already happened once…

The other problem is we don’t know what the disease causing gene is, so they can’t test Ryan and I. Grayson does have a defect of “unknown clinical significance” that has been shown in Leigh’s kids, but geneticists haven’t classified it yet as definitely being disease causing. The counselor did say it was likely, but not definite, that could be our gene.

We talked about doing genetic testing on the baby by amniocentesis. We could test and see if the baby has any of the same genetic defects as Grayson. This may or may not tell us anything and could just raise more questions and cause more anxiety. OR we can wait until the baby is born and do blood testing as well as imaging, and of course, observation for symptoms. This is most likely what we will do, due to the small risk of doing an amnio, and the fact that it probably wouldn’t tell us much anyway.

The genetic counselor recommends we see the same geneticist that Grayson’s Mito specialist recommended we see. She (the counselor) is going to call that doctor today and explain our situation and try and get us an appointment. So…not a ton of answers, but a lot more clarity and another plan for moving forward.

The ultrasound was blissfully normal. With Grayson’s anatomy scan, the ultrasound tech was very clinical and almost cold. She wouldn’t give us any information at all during the scan. Of course, back then, we had no idea we had anything to worry about, and the scan ended up being totally normal. Today, I have no idea if she knew our situation or not, but our tech was warm, and with each body part she looked at, she commented with “very nice”, “totally normal” or “looks great”. Even though I know this doesn’t mean the baby doesn’t have Mito, it was still reassuring and comforting.

We are so hopeful this baby is healthy, because the heartache of having two babies with Leigh’s is incomprehensible. Gone are the days of having a normal ultrasound and then boasting about a healthy baby on the way. But we are hopeful. Without hope, the next few months would be excruciating and anxiety filled. But I’m not going to live that way. We will do what feels right in terms of testing, trust God, and pray.

Pray, pray, pray, pray, pray. And I’m going to enjoy the rest of this pregnancy, because it could be my last. I absolutely loved being pregnant with my Grayson, that time that he was all mine and we had already began forming that deep bond of mother/child. I want to have that again with my second. This baby started moving and grooving this week and I am trying to cherish each wiggle and kick without the anxiety of worrying about what’s going on in his/her DNA, beyond what an ultrasound can detect. Because whatever is below the skin and bones, this baby is perfect and already so loved by his parents, big brother, and so many others. And for that we are grateful.


10 thoughts on “Heartache and Hope

  1. Prayers for peace throughout the rest of your pregnancy. I made the same decision with cystic fibrosis testing. I figured it would make me more anxious which was not good for the baby no matter what the circumstance. You do what is in your heart.Kathy Turner

  2. I've been thinking about you, and this, knowing your scan was this week. I know it's not that same at all, but if you ever need anyone to talk to about surprise #2 fears, I'm here for you. xoxo

  3. Glad everything looked good.IMO, unless you'd abort, there's no sense in doing an amnio to look for Leigh's. It wouldn't change treatment, and it's not something to prepare yourself for since you're already living it.Odds are good that everything will be ok … but I know you'll be holding your breath until you know for sure.

  4. praying for you! long story short, i have a "friend" [you know, internet buddy through giant pumpkin growing] whose oldest son had Menke's disease and they were freaking out their younger "suprise" baby would have it too especially when they found out he was a boy. don't know the odds, but can tell you it was all happy news from there for the youngest. will pray this fate repeats itself for your family!

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