Difficult news...praying for the best!

Baby W was chit-chatting with us during our ultrasound, moving his lips all over the place! It is so fun to see him moving around in there, because I don't always feel him. I have been feeling him way more often though, which is so great! I love to feel him rolling around, getting hiccups (just once) and getting a tiny nudge here and there. He is sitting SO low right now! I have just started to have some sciatic pain, which is not fun at all! I guess I can't complain though, because I have had a pretty perfect pregnancy.

We saw Dr. R. yesterday, and he gave us the news that we o-so-didn't want to hear. Baby W's 'achondroplasia' diagnosis has been changed to a type of dwarfism called 'thanatophoric dysplasia' (which I will now just refer to as "TD"). TD is lethal in 90-95% of cases in the first few days of life. The pictures that we have really help explain it a little better.

The picture above is from Baby W's back side. His head is on the right, stomach/bum on the left. As you can see, his ribs (toward the right) are 'bowing in'. They should be more of an oval shape.

The picture above is just of baby W's mid-section. You can see the white lines on each side of him in a slight "S" shape, these are his ribs 'bowing' in, instead of out. In an average child, the baby's more of an oval shape than our little man. His stomach and head continue to grow as they should, as well as all of his organs. Unfortunately, his heart and lungs are located in the upper part of his body, within the ribs. They are also able to continue to grow, but the area that they take up is not able to house them as they get larger. Right now, I am breathing for Baby W. He is not using his lungs at all, so this doesn't pose a huge problem until he is born and tries to breath. There is no room for his lungs to expand and breath for himself. From what we understand, he should be okay until birth (at this point in time) and at that time they will try their best to assist him in his breathing. They can only inflate his lungs so far without the pressure from the ribs working against the doctors, therefore having the lungs burst. Hopefully Baby W will keep his ribs large enough to house his lungs without problems.

Baby W did show some growth, which we were very happy to see. If we see the growth stop, there is a chance that we would deliver Baby W in just 5 weeks from now. If he continues to grow, at 36 weeks, which is 9 weeks from now, we will decide whether to deliver or continue until 40 weeks. It all depends on what he decides to do in there.

We are praying to beat the odds and make it into the 5% of survival cases, but know that whatever happens we can be with our little man again after this life. Keep him in your prayers!

Cherish

Cody's sister and her family sent me a package today...I think I cried for 5 minutes after opening it. This small necklace means more to me than I can ever express. I know I will cherish it for the rest of my life! What an amazing reminder of staying positive, no matter what challenges you may be facing. Thank you, Thank you, Thank you!

Come What May and Love it

Well, where to begin. I just keep thinking, "I want to go to Holland! Let us go to Holland!" (If you are not sure what I am talking about, read this post.) In the past 6 weeks a lot has changed for us. We went from expecting an average height baby to a little person. This, at first was a big shock. After the first few weeks we stopped worrying about the fact that our Baby W was going to be a little person. We started to worry about his development; but after our second ultrasound, everything looked great with Baby W and that put some of our fears at ease.

This week we had our third appointment with Dr. R., our perinatologist. I hate to admit it, but I was dreading it. I never knew what maternal instinct was, but now I am very familiar with it! All morning (which was better than weeks before the first ultrasound), I was super nervous and just didn't really want to go. Time passes too quickly when you aren't really looking forward to something, doesn't it?!

We began the ultrasound...which, by the way, is MUCH better in a perinatologist's office! All of the tech's that we have had are amazing, they just zip around so quickly compared to ones in a normal doc's office. Sorry, that was random! The tech measured everything, and Baby W sure was looking cute! I felt like he looked a little bit longer at the ultrasound, so that was fun. He had both his arms up under his chin like he was posing for a picture...he is already practicing for me! Ha! The tech did all of the measurements, then Dr. R. came in. Right when he came in, she showed him all of the measurements and looked a little concerned. He said something to the tech asking about if "that measurement is really that small". He went on to show us that his top two ribs on each side are starting to be concave. They are growing in, instead of in a "C" shape like they should be. Of course, I lost it a little. This is why we are going to our ultrasounds, this is all that Dr. R. is really looking for each time we visit, because it can be fatal for our little man. He measures everything else but is only really concerned about the shape of his abdominal cavity. Obviously, the abdominal cavity houses all of our organs. If Baby W's organs continue to grow(which we obviously want) but his ribs cannot house the organs, he won't make it. Dr. R. said that Baby W can still survive with just 2 ribs starting to grow incorrectly, but that he will have some difficulties. He didn't tell us what, I think because he saw how overwhelmed I was with seeing EXACTLY what we didn't want to happen start happening in our precious Baby W. He did tell us that this CAN effect ONLY the top portion of the ribs, but that he cannot tell us if that will be Baby W's case. It may continue to progress and all of the ribs will grow incorrectly, or it may stick to just those two. We want TWO! We want TWO! Optimism is key, right?!!

Dr. R. also said that Baby W is a little small. He has to guess the baby's weight because in a normal pregnancy, the baby's weight is estimated by measuring the length of his femur. Obviously, Baby W's femur is not the same as other children's, so Dr.'s simply have to guess. He guessed that Baby W was probably 14 oz., which is small. We are not sure how small, but then again, we aren't sure of much.

Next he asked if I was feeling Baby W move. I DON'T KNOW! It sounds so stupid, but maybe because it is my first pregnancy I can't really tell. Last Saturday I felt some fluttering for about 10 minutes, then on Tuesday I felt a quick punch, as well as on Thursday. They were so quick that I am not positive though, part of me thinks that I am just making it up! Dr. R. said that he was seeing "a little movement" but that if I don't feel baby W move he wants me to come see him. Hmmm...I don't think I am really feeling him move ever, so does that mean I can go see Dr. R. every day!? Ha. Anyway, moral of the story, Baby W needs to start moving around in there so we don't have to worry so much about him...come on Baby!

I don't know if I can explain how I am feeling, mainly because we don't know what is going to happen. Part of me wants to be completely optimistic that Baby W will make it here just fine, that somehow this will all be inaccurate, that we can still go to Holland, and just have a healthy little person. (Okay, I am sure, if he is not healthy, that it will just be South Africa, and we will re-adjust, just like we changed our plans from Italy to Holland!) Then, the other part of me is doom and gloom. I don't want to lose our Baby W. I don't want him to be hurting. I don't want to feel the pain of losing a child. I don't want to face the challenges ahead of us.

I don't know how we could go through this without a knowledge of our Lord. A leader in our church, Joseph B. Wirthlin, said this,

"If we approach adversities wisely, our hardest times can be times of greatest growth, which in turn can lead toward times of greatest happiness {...} Come what may, and love it."

I know that we will need to remind ourselves of this each day, and that some days will be much harder than others. But I also know that if we can do this, if we can pray for comfort and understanding, that we can get through this.

To be honest, I am not really 'worried' about what is going to happen in the future. I am extremely anxious to know what is going to happen, but not worried. I know that we will be able to handle whatever is put in front of us. Whether that be a healthy little boy, a little boy who needs lots of assistance and surgeries, or that we are not able to be with this little boy here on this earth. I know that no matter what happens, we get to be together for all eternity! What an amazing blessing that is to know. I know that if we continue to rely on the Lord that he will help us with whatever trials come our way. We are so thankful for all of the prayers that are being said for our family, and want you to keep them coming! We know that the power of prayer is beyond anything that we can imagine. Prayer can make miracles, and can also send comfort. We will take either! A miracle would be ideal! However, we know that comfort may be what we need, and we will keep the motto, "Come What May and Love It."

Thoughts

Just a few thoughts as of late...

-As each day passes I am more excited to be 'mommy and daddy'. I can't wait to meet this little guy. Much to my surprise, as each day passes I also get a little more nervous. I know he is just a normal baby, but the more I learn and study about achon, the more I realize that there are many things other than the normal to think about. I am worried about my son not making it here to us. I am worried about his safety when he sleeps, I am worried about his little spine developing after he is born. I am worried about what car seat to buy him so I don't harm his back. I am worried about laying him down alone and him not being able to breathe. I am sure that so many of these things will come with time; I will get more comfortable with how to take care of my little guy and all will be fine. These are just things that I think about from time to time.

-I am so thankful for my faith. I don't know what I would do without a God to talk to every day. I am sure that some days he gets sick of me I talk with him so much! He is such a comfort to me in knowing that our little boy is just how he is supposed to be.

-I can't imagine going through this with anyone but Cody. What an amazing husband he is. So calm and rational. My many breakdowns are sometimes approached with kind words, and sometimes just hugs. Whatever way he chooses to console me seems to be the perfect way at the time. I am so grateful for his education. Although at times I don't see him as much as I either of us would like, I know that it is what he needs to be doing right now to secure the future for our family. I am so blessed to have a husband who chose a profession that will provide for all of our little man and his health needs. Lately he has been so great about giving me extra attention, and O how it helps!

-Sometimes I worry about the Dr.'s diagnosis...how correct is it? How can they be sure? What if it is a different type of skeletal dysplasia? My bi-monthly Dr. appts help with this, but there is always the question.

-I know this baby was supposed to come to Cody and I, and into our extended family. We have the most overwhelmingly supportive family who have been through struggles harder than I can even imagine. I know that he will be strengthened by each one of his grandparents, great-grandparnets, aunts, uncles, cousins, and so on. He is going to be so loved he will get sick of it!

-When am I going to feel you kick, or roll over, or whatever you are doing in me? WHEN!?!

-I feel so blessed to be entrusted with this baby in our home. I think about all of the blessings that he is going to bring to us. We are going to meet some AMAZING people. He is going to teach us about true perseverance. He is going to be the most amazing thing that ever happens to us, and I feel that every day!

I am sure that I will continue to have these questions for the next 18 weeks, probably the next 18 years! Hopefully they someday are all clear-cut to me though! Random post, sorry.

Smiling Baby!

We had our second appointment with Dr. R., our perinatologist. Stop holding your breath...it went wonderful! We were so happy/relieved that Baby W was still doing so well. His arms and legs are still short, but we don't care! We just want his torso to continue growing properly, and it is going down the right course now. In the picture above he was opening and closing his mouth! So funny! (His arms are across his chest, the little thing that looks like an arm isn't...don't worry, it's not quite that small!)

Okay, seriously, how cute is he?! (I know, I know, I am the mommy!) When the tech rolled over his face, both she and Dr. R. began laughing because of how big Baby W was smiling at us! I felt such a calming feeling, like he was saying, "Mom, Dad! STOP worrying about me!!!" It was so fun to see his handsome little smile.

I had all sorts of questions for Dr. R., and he was so patient with us. Here are some of the questions I asked, because I am sure that some of you have the same ones...

-Is there an increased chance of hydrocephalus(water on the brain) because of his skeletal dysplasia? No, he has just as much of a chance of this as any AH(average height) person.

-Will Baby W need any surgeries immediately after birth? As of right now, no. He is just achondroplasic, and will only require LOTS of testing when he is born. At his birth, there will be a Genetic Doctor who will assess him to all ends. Then we will go from there! Anyway, if it turns out that he is just achondroplasic, no surgeries right after birth! Woo-hoo!

-How do his arms and legs look? Very normal for achondroplasic babies, small but healthy. I was worried from his last ultrasound that he only had a femur bone, and was missing his tibia and fibia. (I know this sounds crazy, but it does happen in LP's. They simply have a femur bone with a foot.) Today we were able to see the femur, tibia and fibia bones and they look great! Also, at the last US, Baby W had his hands all curled up in a ball. Dr. R. had said that he really wanted to see his fingers stretch out in the next few visits to see him. Today the little man had his fingers intertwined across his chest...Good Job Buddy! He did just what the doctor wanted...spread those fingers out. We were especially excited for this because even Little People can play golf...and we are really counting on him to be the first LP in the PGA!

-Genetic testing...dun, dun, dun...do we need to do it? Now or after Baby W's arrival? Well, we CAN do it if we want after Baby W is born; but it does seem, um, silly. It is scientifically proven that Baby W's achondroplasia simply comes from a gene mutation, not from us. For more info on this, you can refer to this post.

-Will I go full term? Yes, as of now, I can plan on a full, 40 week delivery. That puts us still on June 23, Cody and I's 3rd anny!

-When will I feel him move? We are not sure. Dr. R. said that he would want me to feel him start rolling over in the next few weeks, but that is not a definite. I won't feel him kick or punch me like an AH(Average Height) baby, just the rolling and squirming, so this makes it take a little while longer.

-Should we be speaking with Pediatricians, etc? At our next visit we will get the names of a few pediatricians in the area who are familiar with skeletal dysplasia. I would like to meet with one soon after that so I can learn a little better how to prepare for any of Baby W's special needs. He will pretty much be treated like an AH baby, from what I can understand, but will need extra support of his head/back. From the little research that I have done it seems that some things can be damaging to his spine developing correctly, such as canvas seats with no real support and carrying backpacks and slings. I want to make sure that I am not buying things that will be harmful to my little dude!

Overall, Baby W looks wonderful. Right now his ribs are growing along with his organs and torso, so that indicates that Baby W's form of skeletal dysplasia is not lethal. We hope and pray that he continues down this path but know that whatever our Heavenly Father has in store for us is what we will take! We are so in love with this little guy. We can't thank you enough for all of your prayers on our behalf, by all means, keep them coming!

What is Achondroplasia?

Achondroplasia is a common, nonlethal form of skeletal dysplasia (dysplasia - not normal), or a genetic disorder of bone growth. Depending on who you ask, statistics say that one in 25,000 to one in 60,000 births will result in Achondroplasia. Achondroplasia is one of the oldest recorded birth defects, dating back to the Roman Empire. It is characterized by abnormal body proportions — affected individuals have arms and legs that are very short, while the torso is more nearly normal size, and in some cases individuals have larger heads due to "frontal bossing".

Before beginning to walk, a baby with achondroplasia often develops a small hump (kyphosis) on his lower back. This is due to poor muscle tone, and usually goes away after the child starts walking. Once walking, the child usually develops a markedly curved lower spine (lordosis or sway- back), and the lower legs often become bowed. The feet are generally short, broad and flat.

Achondroplasia is caused by an abnormal gene located on one of the chromosome 4 pair (humans have 23 pairs of chromosomes). In some cases, a child inheritsachondroplasia from a parent who also has the condition. If one parent has the condition and the other does not, there is a 50 percent chance that their child will be affected. If both parents have achondroplasia, there is a 50 percent chance that the child will inherit the condition, a 25 percent chance that the child will not have it, and a 25 percent chance that the child will inherit one abnormal gene from each parent and have severe skeletal abnormalities that lead to early death. A child who does not inherit the gene will be completely free of the condition, and cannot pass it on to his or her own children.In more than 80 percent of cases, however, achondroplasia is not inherited but results from a new mutation (change) that occurred in the egg or sperm cell that formed the embryo. The parents of children with achondroplasia resulting from new mutations are usually normal-sized. The gene that causes this disorder was only discovered in 1994, so much research is still being done to learn more about it. The gene is one of a family of genes that makes proteins called fibroblast growth factor receptors. Scientists have recently linked these genes with several skeletal disorders.The gene that causes this disorder was discovered in 1994, a mere 13 years ago. While scientists are eagerly studying these mutations, there is much controversy from society at the outcome of the studies.

A few notes: Intelligence is entirely normal in people with achondroplasia. The term "midget" is considered offensive in this day and age. The acceptable terms for a person with any type of dwarfism are person with dwarfism, little person, LP, and person of short stature.

*I found this on another families blog, and I think it explains the condition quite well*

The Scientific Side of Things...Cody Style

What can a bachelor’s degree in biology provide? Well, not enough to make the scientific jargon over the past few weeks comprehensible. It is one thing to interpret the information myself, but relaying that information to my wife can at times be difficult. So for those who may be interested in seeing dwarfism from the scientific view, I attempt to explain it for everyone.

The Rundown

• Each of us has 46 chromosomes, which are actually set up in pairs of two. We receive 23 from mom and 23 from dad. Twenty-two of those pairs are known as autosomes (defined for being non-sex chromosomes, which will be important to know for later). The last pair determines just that, whether we will be a male or a female and are therefore named as such, sex chromosomes. If your confused, obtain two pieces of string, thread, etc. Lay them out and cross one of the other forming an X. Loop the string lying over the top under like your making a pretzel. At this point, repeat the same step with the two strings above the swirl you already have to form a knot. You should have created something with a large knot with four appendages stemming from that knot. This is generally what a chromosome looks like, below.
• Each chromosome contains DNA, which acts as our genetic blueprint. Each DNA molecule can be composed of 10,000 to 1,000,000,000 nucleotides. Now imagine that you were to take a 0.5 mm mechanical pencil and write a repeating code over the whole chromosome you just created. Our DNA works with four repeating nucleotides (C,G,A,T), so as you write your blueprint for your chromosome keep it to four letters as that will relay all of the necessary information for the body. But remember, it is just a blueprint.
• We need a way to take our blueprint and somehow make it functional. This is known as the central dogma. Suffice it to say, several components are involved in reading the blueprint to produce a messenger RNA, which carries the information to another processing center that reads that information and ultimately makes a protein. Translation…the DNA is read (similar to the Leapfrog Tag Reading System below) and that information is then placed into, let us say, an easy bake oven. The oven produces a protein which has functional capabilities to move throughout the body and do work.
• Now, if rewind a few paragraphs and become a little more specific with the information carried by the chromosome, segments of the repeating code can be called genes, because the have a specific destination or function as to what they will be. Just think back to the blueprint, we will contain specific information for each part of the building. Each gene carries blueprints with specific instructions for making proteins. Those proteins then act as the body’s building blocks. In our case, this specific protein called FGFR3 (Fibroblast Growth Factor Receptor 3) has mutated by at least one nucleotide base. Translation…the four lettered code you put on your own homemade chromosome somehow becomes changed which means it will be read differently and ultimately will come out as something different from your easy bake oven.
• The FGFR3, from what scientists believe, becomes overactive leading to altered development of the long bones, which is what has happened in Baby W’s case.