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.

So blessed and Welcome to Holland

We are so blessed to have family and friends who are supportive, loving, and full of faith. Today especially, I feel extremely grateful for all of you who have been fasting and praying both for us and for Baby W's health. I know that the faith and prayers of each of you will bring us countless blessings, and it means so much to us!

I wanted to share this story that Amanda, my sister, passed along to me. The authors' daughter has down syndrome, I believe. It really does capture how I am feeling right now, AND how I know I will feel in the future. What a blessing this little man is going to be in our lives; I know that we would not choose any other path than the one that we are now headed down.

WELCOME TO HOLLAND

by Emily Perl Kingsley, 1987, all rights reserved

I am often asked to describe the experience of raising a child with a disability - to try to help people who have not shared that unique experience to understand it, to imagine how it would feel. It's like this...

When you're going to have a baby, it's like planning a fabulous vacation trip to Italy. You buy a bunch of guidebooks and make your wonderful plans. The Coliseum. The Michelangelo, David. The gondolas of Venice. You may learn some handy phrases in Italian. It's all very exciting.

After months of eager anticipation, the day finally arrives. You pack your bags and off you go. Several hours later, the plane lands. The stewardess comes in and says, “Welcome to Holland."

"HOLLAND?!?” you say. “What do you mean, Holland? I signed up for Italy! I'm supposed to be in Italy. All my life I've dreamed of going to Italy."

But there's been a change in the flight plan. They've landed in Holland and there you must stay.

The important thing is that they haven't taken you to a horrible, disgusting, filthy place, full of pestilence, famine and disease. It's just a different place.

So you must go out and buy new guidebooks. And you must learn a whole new language. And you will meet a whole new group of people you would never have met.

It's just a different place ... After you've been there for a while and you catch your breath, you look around ... and you begin to notice that Holland has windmills ... and Holland has tulips. Holland even has Rembrandts.

But everyone you know is busy coming and going from Italy, and they're all bragging about what a wonderful time they had there. And for the rest of your life, you will say “Yes, that's where I was supposed to go. That's what I had planned."

And the pain of that will never, ever, ever go away ... because the loss of that dream is a very, very significant loss. But if you spend your life mourning the fact that you didn't get to Italy, you may never be free to enjoy the very special, very lovely things ... about Holland.

CELEBRATING HOLLAND - I'M HOME

Follow-up to the original Welcome to Holland by Emily Perl Kingsley

By Cathy Anthony

I have been in Holland for over a decade now. It has become home. I have had time to catch my breath, to settle and adjust, to accept something different than I'd planned. I reflect back on those years of past when I had first landed in Holland.

I remember clearly my shock, my fear, my anger, the pain and uncertainty. In those first few years, I tried to get back to Italy as planned, but Holland was where I was to stay. Today, I can say how far I have come on this unexpected journey. I have learned so much more. But, this too has been a journey of time.

I worked hard. I bought new guidebooks. I learned a new language and I slowly found my way around this new land. I have met others whose plans had changed like mine, and who could share my experience. We supported one another and some have become very special friends.

Some of these fellow travelers had been in Holland longer than I and were seasoned guides, assisting me along the way. Many have encouraged me. Many have taught me to open my eyes to the wonder and gifts to behold in this new land. I have discovered a community of caring. Holland wasn't so bad.

I think that Holland is used to wayward travelers like me and grew to become a land of hospitality, reaching out to welcome, to assist and to support newcomers like me in this new land. Over the years, I've wondered what life would have been like if I'd landed in Italy as planned. Would life have been easier? Would it have been as rewarding? Would I have learned some of the important lessons I hold today?

Sure, this journey has been more challenging and at times I would (and still do) stomp my feet and cry out in frustration and protest. And, yes, Holland is slower paced than Italy and less flashy than Italy, but this too has been an unexpected gift. I have learned to slow down in ways too and look closer at things, with a new appreciation for the remarkable beauty of Holland with its tulips, windmills and Rembrandts.

I have come to love Holland and call it Home.

I have become a world traveler and discovered that it doesn't matter where you land. What's more important is what you make of your journey and how you see and enjoy the very special, the very lovely, things that Holland, or any land, has to offer.

Yes, over a decade ago I landed in a place I hadn't planned. Yet I am thankful, for this destination has been richer than I could have imagined!

Baby W

We are so excited to welcome Baby W into our lives. We are expecting him on June 23, 2010! That is just a little under 5 months, and it is our 3rd wedding anniversary. We learned last week that we have quite the journey ahead of us, and I am hoping to catch our journey here.

Going into our ultrasound on Monday January 25, 2009, we were both excited. I had an uneasy feeling for a couple weeks prior to the ultrasound, but was still anxious to find out what sex our baby was. So many feelings were going through my (and Cody's) brains sitting in the waiting room. I kept thinking, just like the previous couple of weeks, "I hope he/she is healthy". I know that all parents have this feeling, and as I asked my friends/family about this, they confirmed that they were a little nervous going to their first ultrasound as well. For some reason I felt like it was more that nerves, that something was not quite right. We got called back, and our sonographer began taking pictures of our little guy. She was rather unexperienced, and we could tell that it was taking here a bit longer than it should have to find different parts of the baby. She thought that she found Baby W's "boy parts" but wasn't sure, and after 40 minutes, she went and got another sonographer. The next lady was extremely quick, and was finding the skull, heart, arms, and legs and measuring them. At one point she measured the femur bone (leg) and on the bottom of the screen I saw that it measured at 12 weeks; and I was 19 weeks pregnant. I was a little nervous and asked her if that was accurate, (of course she can't tell us anything) and she just said, "Yeah, that is what I am looking at now" and continued on. After taking measurements for about 30 minutes the radiologist came into our room. She watched the sonographer for a couple of minutes, tried to confirm if Baby W was really a boy, but wasn't positive, and then asked if she could sit down and speak with us. I can't explain the feeling that I had. Mostly because it was strangely calm. I felt as though I had been being prepared for this for a few weeks, and both Cody and I silently listened to her. She told us that there were some concerning things in the ultrasound, and that Baby W's limbs were not quite growing like they should be. She was very comforting but could not tell us any more than that.

The next morning, Tuesday, I spoke with my OBGYN, Dr. W., and we made an appointment with a perinatologist first thing Wednesday morning. Tuesday was quite a long day. Both Cody and I tried not to think of all of the possibilities that could be wrong with our precious boy, but when your mind starts going it is hard to avoid. We did our best to stay positive. I, of course, had multiple mini-breakdowns, but was comforted by my faith in God and my wonderful husband. Needless to say, that evening of sleep definitely was not perfect. We were both anxious to meet with our Doctors in the morning.

Dr. W. met us at the perinatologist's office, which I was so pleased with. We are so fortunate to have some great doctors for Baby W. I got another ultrasound from a very good sonographer, she zipped around and told us Baby W was a boy for sure! Good news...I love boys! Then Dr. R. came in and began to go through another ultrasound with us. It really is fun to see our baby squirming around and his little heart beating away.

Dr. R. began with the cranium. Baby W's head looks great, so that is good news. It measured at 19 weeks, which is perfect. The first radiologist that reviewed our ultrasound thought that Baby W had fluid on his brain, or hydrocephalus. Dr. R. looked at this area closely and said that he cannot see any fluid on his brain. This is a huge relief and we pray that it stays this way. Next he talked to us about the sutures on the side of Baby W's head, or the soft spots that infants have in order to be born through the vaginal canal. Baby W's sutures are beginning to close, which isn't necessarily a bad thing, it just makes a vaginal delivery not an option. Baby W's head may be too big and not able to fit, so a c-section is most likely on the horizon for us. I don't mind this at all, I know the recovery for me is longer but I just want him here and don't care how that happens!

Next, Dr. R. looked at Baby W's heart chambers, spine, lungs, ribs and abdomen. He said that everything looks great! What a blessing! Unfortunately this can change so we will be monitoring the growth of Baby W's torso every two weeks for the rest of my pregnancy. If his ribs do not continue to expand with his organs, it can be life threatening. As I said, though, Dr. R. thinks that he is growing properly right now, so that is very comforting. All of our prayers will be focused on his torso continuing to grow as it should.

Next we were able to see Baby W's arms and legs. The picture above is a 3-D ultrasound, so it looks a little different. They are developed to 12 weeks, which is behind schedule. Due to the length of his limbs, he has been diagnosed with Skeletal Dysplasia, or the more common term, Dwarfism. We will be welcoming a little person into our world! We were both shocked, but actually pleasantly surprised by the fact that Baby W is healthy in every way, just short. His fingers have not opened yet, so we are hoping that he will start stretching those out soon. His feet look as though they are developing normally, but everything is hard to measure at this point. Dr. R. diagnosed Baby W with a type of skeletal dysplasia called Achondroplasia. This is simply a shortening of the arms and legs, but proper development of the rest of the body. This can change, however. A few tears were shed, but it was a surprisingly short cry fest followed by a ton of thankful prayers for his health and the fact that he is simply small, and something more serious was not diagnosed.

There are still a lot of unanswered questions, as well as way too many things that could go wrong with our Baby W. We are still in shock, and I think that this shock will continue for quite a while. We are so happy that we were able to find out now so that we may be able to emotionally prepare for what lies ahead. We are so thankful for our faith and the blessing of knowing that although we may not have any power over this situation, our Heavenly Father does. We know that we have so many loved ones who will be praying for us and our Baby W, and want to encourage those prayers. We need all of the faith from those around us that we can get! We know that Baby W was meant to come into our family, and are so ready to have him here with us. We are not sorry for the situation that we are in, and we are still so anxious to meet our little boy! The next 20 weeks may be some of the longest of our lives, waiting and praying that our little man will come to us with a healthy torso and developed as well as he can be. I am hoping that this can be a good journal for us. There are some days that tears will be shed as I am writing the new challenges that have come our way. However, I know that there will be hundreds more days that I am speaking of the blessings that we are getting from Baby W coming to our family. I hope that you can laugh and cry with us through our joys and challenges, and we ask for your prayers on behalf of the new little man in our life, Baby W.