Spontaneous Mutation

Spontaneous mutation, spontaneous mutation. Those 2 words are in my head, all day long. I will be driving, reading, talking on the phone and in the back of my head all that I hear is spontaneous mutation, spontaneous mutation. Almost that if I say it enough, then it will happen. It will be the answer we are praying for every day. I was even talking to a friend on the phone the other day and told them this is way worst that waiting on Caroline's skin biopsy results. A. We knew it would take months. B. We had no date to expect the results. and C. Let's face reality, we knew no matter what the results were still going to tell us she had OI. No we weren't expecting the severity of it, but still we knew she still had it. With the blood results, we were told we would know when we are there next week. So, we have a deadline. We will know next Thursday if Caroline's OI was spontaneous mutation, or either Web and I are carriers. SCARY. I even emailed NIH contact this week to double and triple check that they received our blood. She said yes, and that our personal tech was already testing. YIKES! So I lay in bed at night staring at the ceiling and all I can say is spontaneous mutation. Like GOD will finally get tired of me saying it all day long, and just raise up his arms and say, "FINE! Just make it spontaneous mutation. SHUT THIS GIRL UP!" Of course, I know that won't happen, that this is all science that I do not understand. Testing that will make no sense to me when they explain it. All I want to hear are those 2 words, spontaneous mutation. You will probably be saying it by the time you read this blog! HA! So keep saying it, praying it, chanting it, signing it, whatever you think will work.

It's crazy to think that Web and I started this crazy journey of OI almost 9 months ago. It seems like it should be longer than that. But it also seems like we have so much more to learn. I am dreading our trip next week. Not the flying part, Sweet Caroline is a pro at flying. But the full body x-rays suck. Suck more for Web and I. But I am excited to meet with our physical therapist again. Hoping we can get some advice on crawling and walking. Poor daughter, she is wanting to crawl so bad, she gets on all 4's, looks up at Web and I then decides not to try. It's almost like she is saying, "Thanks, but no thanks. I like this view and will be just fine laying here." Most babies you can hold under their arms and they can stand on your legs, or by now at 9 months they are holding themselves up on a coffee table. Not Sweet C, not even close. Her femurs are so bowed, I don't know how she will ever be able to stand. It's so frightening to think about. So hopefully the therapist can give us some good tips and we can start reaching some milestones! Tired of reading all the baby books and seeing how far behind Caroline is doing.

Well that's all for now. I will update next week once we learn the next path GOD has planned for us. I really hope it's the original plan I already had in place!
SPONTANEOUS MUTATION!!

Genetics 101

Oh how I wished I had paid better attention in Science class. Heck when it comes down to it, I couldn't even tell you my science teachers names! Hated the subject. Wanted nothing to do with the subject. So imagine how I am feeling when the leading doctor of OI calls with morning with Caroline's skin biopsy results. "Her structural change in collagen leads us to believe she is for sure Type IV. Position 589, mutation chain is 1000 long. We checked her alpha 1 change and the clinical outcome is broad." HUH? And that's just from the notes that I took. I wish I had it recorded. And I wish someone could have seen my face. When we visit with Dr. OI in August, I am going to need a picture. Probably multiple pictures.

All in all, we learned that Caroline is for sure a Type IV OI patient. We already knew that deep down, yes we wanted the clinical testing to be wrong and her be Type I, but oh well. I mean let's face it, things haven't exactly gone as planned from day one, so why would things start going our way now?
We did learn some interesting facts. There are only 25 other individuals with Caroline's mutation. Think about that. Out of all the people in the WHOLE WIDE WORLD, Caroline and 25 other people have the exact same mutation. That to me sounds HORRIBLE. But actually it's a great number. It's a lot as I was told today. That means there are 25 other people that our doctors can reference. Dr. OI told me today that some patients don't have any other cases out there, and they start from scratch, so good news!
Not so good news, with the type of mutation Caroline has, more than half are classified as Type III OI. (this is lethal) The other half are mid Type IV to on the brink of Type III, also called III-IV. So technical huh? Mid 4 is the best of these 25 individuals. Laymans terms? Caroline could possibly be on the more severe side of Type IV. We were really hoping for the milder side. But as Dr. OI told me today, Caroline will declare herself as she gets older. And if we stay with NIH, then they will try to keep the severity down.
So now what? The infamous skin biopsy results are in, what do we do now? Well, Web and I get blood work done. We are hoping to do it early next week here in OKC, then have it overnighted to our personal lab tech at NIH. (was told we had one today, pretty cool huh?) She will then test our blood, and HOPEFULLY we will know if C got this horrible OI via spontaneous mutation or if Web and/or I gave it to her.
Of course, I believe she got it from me. I mean, I am 35 years old and already had hip replacement. Hip dysplasia runs in my family. If she is going to get it from one of us, more than likely it will be me. I hope to GOD I am wrong. As you know Web and I want more babies, but that decision is not in our hands. They are hoping to have the results to us by our next appointment.
So as you can see today has been a crazy morning filled with crazy emotions. Yes, we are glad we got the results. No, we are not happy she has Type IV OI, but it is what it is. I guess now we can't put off doing our online research. I kept telling myself I didn't want to read about things that might not pertain to Caroline. But now we know she has Type IV and we can read all the gory details.
I'll continue to keep you updated. Thank gosh I have this blog so I can vomit my feelings. Much cheaper than a therapist!
Love to all!

Home Sweet Home?

I am not doing well on keeping this blog updated! One of these days I will get better. One of these days, Sweet Caroline might let me have a minute to myself so I can update! She is starting to love sitting in her pack and play and playing with about every toy known to Babies R Us. She still isn't sitting on her own, but a little help with the Boppy is great! And it gives me time to do the basic things, like laundry, brushing my teeth, making the bed. It's amazing how sitting on their own helps out in so many ways. I literally had to read the last post to see what I talked about last. Sad, isn't it? CRACK! is healed. Sorry, but every time I type the word CRACK! I think of Whitney Houston saying, "CRACK IS WHACK!" Anyhoo her left femur is healed! She has her toes in her mouth constantly and she isn't hesitant with her leg. It took longer than 7-10 days, I would say closer to 14 days before she really let me touch her leg. Thank goodness for dresses. Otherwise, she would be in a onesie every day of her life. So good news, right now we are fracture free. We are back to doing tummy time too. She isn't crawling yet, but that is fine by me. We have no idea what will happen once she becomes mobile, and I really don't want to know what will happen. So hoping maybe we can skip the whole crawling, and move straight to walking. Of course, then with walking we will have to work with braces, stabilizers, or maybe even a walker. We just aren't sure right now. So really it's a no win. BUT we can't wait to watch Caroline learn her own limitations and tell us what she can and cannot do.
Enough about all that. I had a great time at girls weekend! It was exactly what I needed. Once I was on the road, I was fine. Of course, I think I called Web from the road about 10 times thinking of things he needed to know. Like I really needed to call to tell him Caroline ate apples at lunch. But as soon as I made it to the lake it was awesome! We celebrated and had so much to be thankful for. One of my bestest friends became engaged and she was able to tell us all in person. SO MUCH FUN! Of course, with telling us, she got 12 opinions on where, what, how, when she needed to get married. Opinions I am sure she listened too.
AL was a huge success as well! Flying by myself with Caroline was super easy. And a shout out to all the people that boarded behind me and had to help me close the stroller! With Caroline in one arm, my carry-on and purse on the other arm, I couldn't break down the stroller, so I always had to ask the person behind me to help! It's amazing all the things you need to pack for one week for an 8 month old. And a lot of the stuff I needed, I bought once I made it to AL! But she was the best dressed baby, and was loved by so many people while we were there. My grandma absolutely loves her! She thinks Caroline loves the south and should live there full time. If only! Caroline would be the cutest little souther girl!
On a sour note, Caroline's dream house might not happen. We are hopeful, but just not holding our breath. Apparently there is a drainage problem at the house, and the house flooded! We are meeting with some experts this week to let us know what we should do. We were supposed to move this week. Good thing we procrastinated on packing! I am so ready to get Caroline in a pool everyday. We put her in a pool at the beach, and took her to a pool yesterday and she loves it! Loves being in the water and splashing around. Hopefully this time next week, we'll have better news. I guess it's better to learn about the drainage problems now than later when we actually own the house. That could have sucked. And luckily we have not sold our house, and we are not homeless!
Caroline still has not cut a tooth. We are still hoping that she won't have DI. I think about it daily. She has such a cute smile and it would be such a shame for her teeth to be gross. I guess time will tell.
We hope you all enjoyed your 4th of July Holiday! We had a blast!