Friday, 4 November 2011

The Long Answer

Thank you all for your comments, emails, FB posts, etc. We appreciate your excitement and prayers very much. We are so blessed to count you as friends.

For those of you who love my excessively informative medical posts, here's one on the current pregnancy:

I have had two ultrasounds thus far. The first was at 11 weeks and four days (much to my surprise because I didn't think I was that far along, but then again I really wasn't sure). It was a regular ultrasound and everything in that scan was normal. My new OB has everyone scanned at 12 weeks with a level 2 for nuchal measurement (which can be indicative of a genetic disorder like SRPS but does not necessarily tell you anything). They had to squeeze me in quickly since the window for doing the nuchal measurement was closing, so we went in the following week.

At that appointment they did the long level 2 ultrasound, during which the tech examined the baby's hands and feet very carefully for evidence of polydactyly (i.e. extra digits). She found none. Jeff also got a really good look at the baby's rib cage and said it was proportional. The doctor agreed with the ultrasound tech (and Jeff) that nothing abnormal appeared in the scan. He also said that the nuchal measurement was normal (although we are still waiting on the results of my blood tests from that visit). This is all good. The problem is that none of it is definitive.

We have been classed as carriers of the (recessive) gene for SRPS type 2: Majewski type. This means that each child we conceive has a one in four chance of being born with SRPS, and SRPS is always lethal. With our type there are certain characteristics that are usually present, but the constant is the lethality of the disease, caused by extremely disproportionate ribs that prevent the baby from having lungs large enough to survive. SPRS type 2 is also characterized by polydactyly, shortened limbs, shortened digits, cleft lip and/or palate, kidney issues, low set, small, or malformed ears, bone malformations, and internal organ malformations. I admit that I did not request a copy of Leah's autopsy because, well, who would want that? Thus I can't speak to her internal issues (other than polycystic kidneys), but I do know that she had extremely shortened limbs, shortened digits, polydactyly on both hands and one foot, a very small rib-cage, and she did have a small lip issue. Her lip was closed (not cleft) but the line on the area where the lips closed was very very distinct.

The funny thing about the way SRPS works is that aside from the shortened rib cage and oddly shaped bones, the symptoms that one child with SRPS has may not be present in another child. So, if this child has SRPS, then they may or may not have the exact same issues Leah did. So, while it is wonderful that there is no evidence of extra fingers and toes, it doesn't prove that the baby is healthy (this is also because sometimes the polydactyly is just a small skin bump that is not noticeable on an ultrasound). It is also very difficult to measure/determine if shortened limbs are a factor at this point. I don't know why exactly, but that's what they tell us.

Our doctor is very kind and is not making us wait until the next standard ultrasound (at 20 weeks) to find out more about the baby's health. In fact, I am on a rather rigorous ultrasound schedule because we are "high risk" and they want to keep an eye on my cervix as well as measure the baby (I know you wanted to know that). My next scan is on November 15 (15 weeks), then I have one again at 18 weeks, and one at 20 weeks. If there is a problem we could know as early as the 15 weeks scan, as shortened bones should be evident by then...but then again we may not know until the later ultrasounds. If both the baby's measurements and my amniotic fluid levels are normal at 20 weeks then I will be feeling good.

On the not really medical evidence side of things, I feel hopeful because this pregnancy has been totally different than my first. I feel so much better it is unreal. I've been hungry, I've been able to eat, I've gained weight (which I wasn't able to do until my second trimester last time), and I have a reasonable amount of energy. I was like a dead person during my first trimester with Leah. This time around I have also been contending with very little sleep thanks to a certain child's first year molars taking FOREVER to come in, but even with that I've had good levels of energy most days. The only time I feel nauseous or throw up is when I get up too quickly or go too long between meals/snacks. I have to make sure that there is something in my stomach all the time. This may be contributing to my ability to gain weight. Thankfully, I'm still wearing my regular jeans, but they no longer button. I've got quite a fancy rubber band configuration going on, as well as one of those belly band things to keep the zipper from coming down. I'm still able to wear regular shirts as long as they are very long, and I am at least a few weeks from breaking out the support hose.

As far as my mental state, there are good days and bad days. I am at peace with the situation most of the time. Losing Leah was the hardest thing I have ever done. That said, some of the best things in my life (i.e. Tommy and Nicolas) are only part of my life because of that loss. They are awesome kids and they are a continuous reminder to me of how God has worked in amazing ways in my life. Having that helps so much. It doesn't prevent me from being scared of losing another child, but it distracts me and reassures me when I need it.

Almost the entire first trimester sailed by without much stress due to a case of good old fashioned self-imposed denial (don't worry, I avoided alcohol and took prenatal vitamins). Once I saw my OB and had the pregnancy confirmed (at 11 1/2 weeks) it got a little harder. Case in point: even though my OB reassured me three or four times that the ultrasound she did was entirely normal, I found myself looking up healthy 11 and 12 week scans on Google images and holding up the little printouts she gave me next to the computer to make sure. This made me crazy, so I had to stop. I am mostly avoiding any info about baby health, development, etc and not spending much time thinking about the pregnancy because it is just easier that way. I also am not super keen on talking about the pregnancy. I am excited that the news is finally public because I have found that blogging is great for helping me process be prepared for an avalanche of craziness. Or not. We'll see how it goes.


Bella Carina Photo said...

Just wanted to say congratulations and let you know that I'm praying for you guys! I, for one, appreciate your "excessively informative medical posts" :)

Hope you are all staying warm on these chilly fall days!

Jess said...

Craziness is okay, and probably better that you vent it out here than keeping it all in!

susie lavender said...

Congratulations. I bet Tommy and Nic make great "big" brothers. I'll keep you in my prayers.

Joline said...

Congratulations! I've been meaning to call to hear the long story! But this is a good post . . . thank you for all the details. Keep 'em coming.

We love the KLUGs so very much!!!!!!!!!!! We just told Harper you are pregnant and she stopped cold and said, "Wow. Look how God just does stuff."

Such a theologian.