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!