Saturday, February 27, 2010

This pregnancy

This pregnancy has in the most part been extremely similar to when I was pregnant with Lana. I've had no morning sickness, a small amount of "stretching cramps" which are pretty normal in the first trimester... I haven't started the dreaded foot/leg cramps yet - but with Lana, I didn't get that til late 2nd trimester and into the 3rd trimester though.

The only difference that I have noticed so far is that it's harder to feel the baby move. This is normal in pregnancies with a Skeletal Dysplasia baby. The limbs of the baby are much shorter than in a normal pregnancy, so what would usually be a fully fledged kick only feels like a little flutter. I have been feeling the baby move a bit - mostly rolling around rather than kicking though, I think. 

People are asking me all the time how I am. I tell them I'm perfectly healthy - there's absolutely nothing wrong with me. I'm not feeling sick, because I'm NOT sick... the problems only affect the baby. I don't know if this is true of other SD pregnancies, or even in other high-risk pregnancies. But it does feel kind of strange to know that something potentially life-threatening is happening to the baby and I feel absolutely nothing.

I know in my previous posts, I didn't go into detail about what the problems are with the baby... so I'll do that now.

I had my ultrasound at 17 weeks. At the time, all the bones in the limbs were measuring around 14 weeks, but the head and the length of the baby were right on 17 weeks. So far, the internal organs all appear normal (thank God!), although the kidneys may be a bit small. The rib cage appears to be a bit restricted. I can't remember the exact measurement but it was in the 25-50% range. Not dangerously small, although the doctors warned us that this measurement may get worse later in the pregnancy. This is the real determining factor in whether the baby will be able to live or not - most babies with lethal SD die because their lungs have no room to develop in their restricted chest cavity, so when they are born, they cannot breath and usually only live for an hour or so. So if you're praying, please pray in particular for the baby's ribcage to continue to grow larger, and for her lungs to develop normally. This is the most important factor in our little one's survival!! I read that in normal babies, the chest to tummy ratio (not the technical name, but it's nearly 1am!) should be 0.8-1. In lethal SDs, this ratio is around 0.5. Our bub has a ratio of about 0.7 - so not "definitely lethal" but it could be better still!!

In addition to these issues, the baby has what appears to be a "hitch hiker's thumb" - that is, it is in the wrong position, similar to the image below.

Also, she appears to be club footed - although at the ultrasound we couldn't see the feet so well because the umbilical cord was covering them! And the chin appears to be small as well.

I have TONS of ultrasound pictures. With Lana, when I had an ultrasound, we would get maybe 3 or 4 pictures from each ultrasound. With this bub, we got 40!! I'm not kidding, I just counted them all. With Lana, we had to pay extra to get the 3D ultrasound done. With this bub, they just turned it on without even telling us they were going to do it. I'm going to have to upload some of the pics to post on here.

I read something early in this pregnancy (before I even knew that there were problems) that said "It's important to remember when you have your ultrasound that the purpose is NOT to get the first photo of your baby for scrapbooking - the purpose is to look for abnormalities", and never before did I realise how true that was until I was in this situation!! 

Anyway - I've been going over the "medicine" of this pregnancy, the numbers and everything, and I have a non-medical opinion that the baby MAY have Diastrophic Dysplasia but I'm going to wait and see what the doctors say. I just want to be able to say "I said it first" if it turns out to be the diagnosis ;) The symptoms seem to fit (particularly the shape of the hands, it's a very common sign of DTD)... and a good thing about that is that Diastrophic Dysplasia is not lethal - lifespan is normal, the mind is not affected... Matt Roloff from the show Little People Big World has this form of dwarfism. Anyway - we'll wait and see what the doctors say.

So at the moment, I'm feeling pretty good about our chances of having a non-lethal form of the disease. From reading the blogs of mothers with babies who have died from this, their numbers seem so much worse than mine and they often had other complications as well, such as no amniotic fluid, or problems with the baby's internal organs. I'm feeling positive - although I know that I'm not a doctor. One fellow SD mum said to me in an email today, "It sounds like you have lots of reasons to be optimistic- most of the people I have talked to that had a poor outcomes got that news right away. It sounds like you will soon be researching on raising a little person." - it made my day!!

I know that even if we DO have a "little person" baby, we will be faced with other issues and obstacles. Maybe surgeries, braces (not on the teeth - the ones that go on their bones to try and set things in the right position), then the whole social aspect of things as well. But I just want this little one to live and be healthy!!

So I'm cautiously optimistic. I know these things are so hard to diagnose and sometimes a lethal diagnosis results in a healthy baby, and sometimes it's the other way around too. It seems to be one of those things that you can't really tell with 100% certainty until the baby gets here. But I'm still feeling good :)


  1. I'm so glad you have so much cause to be optimistic! That's wonderful!

    And I know exactly what you mean about YOU not being high risk while your baby is. That was our exact situation too, and a lot of times people don't understand that.

  2. Good on you Nicki, we are Veeery proud of you. Lots of love and pray
    Frank and Carla

  3. I am praying for you little bub an especially for the rib cage to continue growing.

    Thank you for education I had never heard of this.

  4. Hi, I'm Grant Stone's mom. Glad you found our blog! I sent an email to the email address listed in your profile. Let me know if that address won't work!

  5. I ran across your blog. We have 6 kids and our 4th child has DD. She has been the true gift from God for our family and our community. As my wife said when she was born...just like a diamond...the smallest packages are the most beautiful presents.

    We currently see Dr. Mackenzie out of the Nemors clinic in Delaware. We are live in Indiana and tried to use the ortopedic there but discovered after about 2 years that DD needs are different and require a different expertise for the doctors.

    I pray all goes well and feel free to contact us for anything....

    Mike and Elva