Jan 8, 2010

a sigh of relief

So.. I have been debating about this post for a while now, but in the end I decided that it is my blog and I want to share our entire journey and not just edited portions. I’m sure most of you are aware of our story, but if you aren’t then feel free to take a look. It is still hard for me to read that post, but I realize how far I really have come.

After having Cole 2 1/2 years ago {wow, where has the time gone?} we knew that we wanted another child, but all the doubts about health came into play. I mean nobody expects to have a child born into this world with extra hurdles to face. We decided the time was right and we wanted another baby. I struggled with the decision to genetic testing done on this pregnancy. Not sure if most of my readers are aware of this, but Cole’s genetic mutation is in the FRGR3 gene. It was completely random and a spontaneous mutation at conception. More than 80% of all cases of achondroplasia are born to average height parents with no family history. So basically we won a crazy lottery! There is no way to look for this mutation without having a CVS or an amnio. It doesn’t show up in chromosome testing or any of the standard tests. You have to be looking for this exact mutation. We discovered that Cole’s long bones weren’t growing right around 24 weeks in an ultrasound. Some babies are never detected.  With the help of our doctor and Cole’s geneticist we decided the best decision for us was to undergo a CVS. Cole’s pregnancy was extremely difficult on me and I just wanted peace of mind. We knew the chances were very slim for a reoccurrence, BUT we still wanted to know.

What is a CVS? Well…it is worse than child birth in my opinion!! *warning, if you are squeamish turn away* They took a long needle and stuck it through my stomach into my uterus and then threaded another thinner needle through that. They had to take out some of my placenta to send to the lab to grow samples from. Your uterus is a muscle which cramps {majorly} when anything touches it. I about lost it! The doctor had to yell at me to calm down since there was a giant needle near my poor babies head. Luckily I had Brooks’ hand to squeeze and I almost bit him. Ya, that painful. At least with childbirth I had an epidural and didn’t feel a thing. Thank you to the person who invented that!

Since we were doing all of this testing they decided we might as well test the chromosomes. We got the results back within a week for that and that is how I knew I was having a sweet little BOY so early on! The genetic testing took almost a month. It was a veeery long month, trust me! BUT yesterday I finally got a call telling me that the baby doesn’t have the same genetic mutation. My prayers were answered. I was overcome with so much emotion. I couldn’t stop crying. I guess it brought back all the feelings I had during my pregnancy with Cole. My husband was excited as well, but when he got home he didn’t really talk about it. I asked him why it wasn’t as big of a deal to him. His reply,"I feel that if I get excited about this it is because I am glad that this baby won’t be like Cole.” I guess I never thought about it that way. I love Cole. I love everything about Cole, but if I could take this away for him I would. I’m just being honest. Some parents believe this is what makes their child and I don’t feel that way. I don’t define Cole by his achondroplasia. He is Cole first. I feel like there are so many obstacles in life as it is, BUT I don’t have the luxury of taking this away from him and I know this will make him a stronger person. I am feeling blessed right now to be the mommy of 2 beautiful baby boys and whatever life brings me.

Cole’s achondroplasia has brought some positives with the negatives. I have a whole new family! Though I haven’t met most of them, they are the most wonderful, thoughtful, caring people I have met. They know what it is like to walk in my shoes. They have children like me. They know what it is like to have been lying in a hospital bed and told there is something “wrong” with your baby. They know what it is like to have a million doctors and to have sleep studies and MRI’s on a regular basis. They know what it is like to owe doctors and hospitals tons of money at a time. They know what it is like to have to learn fancy terminology like achondroplasia, kyphosis, hydrocephalus  OR what the difference between a neurologist and a neurosurgeon is. We share a common interest; our special children. So with the negatives have come so many positives. I have a support system out there. And who better to support you then people who know what it is like to be you.

Thank you to those that have been there for me the last few years. It has been quite a journey and it is definitely not over, but you all make it so much easier!

26 sweet comments:

Lara said...

Very well written. Congrats on another boy to add to your family. That is wonderful and SO much fun!

Vanessa Winbigler said...

Oh you made me cry! I love you Katie! Congratulations to you and your family!

Destini said...

So glad the genetic testing came back clean! I know it took a lot to write this post, but you are right, it is your blog and your experience. And I'm with ya, I love Trace so much, and am so glad for all the new friends, but if I could take away his achondroplasia, I would, without a second thought. Who wouldn't want an easier life for their child?

Tiffany said...

congrats on your healthy baby boy & congrats on becoming a sweet family of 4! i'm sure your story has touched so many people :) there is nothing wrong with being open & honest...especially on YOUR blog! kudos, my friend!

The Leonard Four said...

k.jo you just made me cry! i'm so glad that your littlest man got a great report! y'all are going to be an adorable foursome! xo...

Anonymous said...

So glad everything turned out well!! Under the circumstances I am so glad that I have met you guys through the internet and I can't wait to meet you in person one day and see those two precious boys! :)

Tonya

Andrea said...

Beautiful and honest post. Thank you for sharing your feelings.

Always be my hero said...

Katie, you just made me cry. I knew your feeling and we are sharing almost the same story. I am happy for you and so glad to hear your new baby doing great! Congratulation for you and your family!

Dunhams said...

This is really a beautiful post, Katie. I can't pretend to understand your feelings and what you've gone through, but I can say that I think you're such a strong, positive person and that Cole and this new baby boy are very lucky to have you for their mommy. I'm so glad to hear that all the tests came out perfectly! Congratulations!!

Mattilyn Paige said...

Oh my, I am in tears right now! I can never imagine how you feel or what you are going through, but I am so beyond happy for you and the baby! You are an amazing mommy to Cole, and I honestly couldn't imagine the world without him in it!! I feel so lucky to be a part of your lives. Since we were pregnant the first time together, I kinda feel like I'm missing out on sharing those weekly pregnancy stories with you :( But I'm so not ready yet! I love you and Cole to pieces and think he is the luckiest kid alive to have you as a mommy!! So it baby #2!!

Lisa said...

I know EXACTLY what you're going thru. It took us a LONG time to prepare for a 2nd pregnancy. Liz was already 4 when I found out I was pregnant with Chance. So, we weren't sure how to handle the genetic testing either. We chose some non-invasive forms that aren't as conclusive as CVS. But it didn't take long until it was 100% certain that Chance didn't have achondroplasia and it was a very odd feeling. I didn't write about it, and when we told our close relatives, it just felt odd. Because it just didn't feel right to be happy because it seemed somehow that meant that we were happy he wouldn't be like Liz and that wasn't the case. But in the end, we're relieved that Chance doesn't have the same medical issues that Liz has faced and that's exactly how you're feeling too. By the way, it's CRAZY how fast the baby will go thru clothes. Now, I know what other people are always talking about!

Tricia said...

You are wise beyond your years dear friend! So happy for you. :)

Kelly and Ryan Walker said...

Glad to read this update and so glad to hear all is well. Stay strong! See you soon

Holly said...

Oh man, tears upon tears over here! Such a great post Katie. You have been blessed with a wonderful family, and those 2 sweet boys are so lucky to have such amazing parents! xoxo

The Bankesters said...

Beautiful post. I know it was hard to write. I feel the same way about Ian and I definitely love my new family as well. It is a great support system we have. Congratulations again on having 2 sweet little boys! Just imagine 2x the cars and monster trucks:)

Jaime said...

What a beautiful and completely honest post. You are truly blessed to have sweet Cole and he's twice blessed to have you as his mommy! The newest Johnson boy is going to be one lucky little one!

jenn said...

I love how honest, candid and open you are. We are all so blessed to learn from you Katie. Cole is the most amazing kiddo - I love him to death and cannot wait to meet his little brother. You, Brooks, Cole, Baby J, Honey and Riley are amazing. Love you all!

Anonymous said...
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The Book of Renee and Ryan said...

Katie,
It was very brave of you to post your true feelings and experience on your blog and I'm happy you did! I can't imagine the worry you had in the back of your mind. Who wouldn't want things to be as easy as possible for their little ones? You are so very blessed to have an amazing little boy and a sweet little new one on the way! I hope the rest of the pregnancy goes smoothly!

Team Carroll said...

Katie! First of all, you have me in tears. SO moving. Cole & baby brother are so blessed to have you as their mommy. I think it's only natural for you to feel the way you do...any parent would! No one wants their child's life to be harder than it has to be. You are a wonderful momma so don't ever let anyone make you feel any different. I'm so happy for you and can't wait to meet the newest addition :)

Emily said...

I'm very happy that everything looks good with baby #2, but honestly I would have been just as happy for you if the baby did have achondroplasia.

Melisa said...

Yep, difficult post to write indeed. I'm glad to have met you and your family. If I had a 3rd child I would have done the same thing and have testing done too. Very happy that things are going well for you the 2nd time around.

Greene Family said...

Congrats on baby boy #2 being healthy! Having two boys is such a blast! I can imagine that this was a very difficult post for you to write. I'm happy for you that you have peace of mind and a less stressful pregnancy this time around! You guys will continue to be in our prayers that you and baby boy #2 are healthy! I can't wait to see pictures of Cole with his baby brother!

kiki said...

I was in tears reading this. Thanks for sharing your journey with us, Katiẹ

Bethany said...

Great post. I have a bio daughter with Down syndrome, as well as another that we adopted. I want another bio child, but I'm conflicted with genetic testing. For this very reason. How do I scream from the top of my lungs that my girls' lives are worth living, yet if I do genetic testing on an embryo and find out it has T21 ... how could I say "throw it away"? Ahh ... so conflicted. :)

sanjeet said...

I love you Katie! Congratulations to you and your family!

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