Wednesday, April 14, 2010

Well, it's not Downs Syndrome

The doctor's office called today at 2:56pm. I was hesitant to even pick up my cell phone when I saw the number. Melanie, Dr. Briery's nurse said just this "I got your results back for the Trisomy 13, 18 and 21 and its none of the above." My first instinct, sigh of relief. The skeletal dysplasia tests are now being sent off to the genetics lab and those take another 2-3 weeks. I now feel as if I can truly begin to prepare for Dwarfism, or skeletal dysplasia's. I am comforted to know that Cole's cognitive abilities should be normal, pending that the dwarfism tests are the good kinds, such as achondroplaisia, etc like the people we see on Little People Big World, etc. who have only physical impairments, not mental ones.

Good is good and I feel as if I have 2 weeks or so now to breathe again. Thank you for the kind words of encouragement and support.

Monday, April 12, 2010

Todays amnio...

Well today at 2 we had our amniosentisis. My mom and dad both came with us to meet our specialist and ask all of their many questions. The amnio was soooo painful, as they extracted three large viles of amniotic fluid. We did get to see baby Cole's face on the 4d and he looked beautiful to me. The doctor did not tell us much more than we knew last week, only that we would have the Downs Syndrome test results back in 2 days and if it was negative for Downs Syndrome, that we would have the dwarfism test results back in 2-3 weeks. So, what to do for 48 hours while we wait-I can't do anything but lay on the couch...

We grilled hamburgers and hot dogs tonight with my mom and Bob and Bryan's parents-so that was nice to try and take my mind off of everything. Mom will be leaving tomorrow night once Bryan's home from work and I will finally return to work Wednesday after almost a week and a half at home. Just as soon as we know something, I will make a post. A few precious blog sites of people we have met through the Parents of Little People group...

tayandtracersbigday.blogspot.com
greeneadventures.blogspot.com

Sunday, April 11, 2010

Trying to live day to day...



With everything that has been on our minds, its sort of difficult to maintain a normal everyday lfe right now but we are doing our best to live day to day...we had a really great Easter and I wanted to share some of the pics...Parker and Hayden were so cute in their Easter clothes. Parker got a new Elmo bedtime movie, and Hayden got two new Nintendo DS games, Madagascar and SpongeBob Squarepants. They both got some cute new Polo's from mawmaw too! More to come soon!

Baby Cole

What a week it has been. As most of our dear friends and family know, we received some majorly devastating news last Monday at the perinatologist. Our baby Cole's femur and humerus bones were measuring in the 4th percentile. This worried our regular obstetrician, who sent us to Dr. Christian Briery, our perinatolist. We also found out that aside from his long bones measuring so short, his right femur (thigh bone) was curved, and my amniotic fluid level was higher than normal. All 3 of these things put together meant only one thing to him-our baby had some form of skeletal dysplasia. What, you ask, is skeletal dysplasia? I have been on the internet for a solid week researching it, which is the one thing that he (the doc) told me not to do but i'm a mother-you can't tell me something is going to be really wrong with my son but nothing else. There are over 200 forms of skeletal dysplasia's-the most common forms of dwarfism are achondroplasia and diastrophic dysplasia-which accounts for 80% of the cases of dwarfism. Also a quick did you know-85% of dwarfs are born to average height parents. So, we were sucker punched after 7 months of being pregnant, thinking I was carrying around a "normal" healthy child, and now this. It has been a hell of a week. We visited with our preacher Dr. Day which really helped alot. He explaind that all of the emotions I was feeling are completely normal, and he would be more worried about me, us, if we weren't experiencing the anger, uncertainty, etc. He also focused on the miracle of our child, and how we had each other, Parker, our friends, families, each other, and most of all, a baby which is so much more than so many people. The most poignant thing he said to me was that it was up to us to make the choice. We could chose to take this news and make the best of our situation and the rest of our lives, or we could chose to let it ruin us...well of course you know what we are going to do. So with Cole's due date only 6 weeks away, we are left not knowing ANYTHING other than the fact that our child has a severe disability. We go in tomorrow for an amniosentisis. This is a procedure to withdraw cells from the fetus (Cole) and send them off to test for Downs Syndrome-which they have not ruled out-and to test for certain types of dwarfism. Our hopes and dreams are that Cole will be a healthy baby boy, just a little person. But until his is born, we won't know if he will have so many of the common problems associated with dwarfism-brittle bones, etc.

This has been the hardest week of my life, and I couldn't have done it with out my husband, my son, my family, my church, my co-workers, my friends, and my new found support group and the friends I have already made there. I joined a support group called Parent's of Little People and have already me 3 girls in Louisiana with little people-they have done nothing but show me the joys of their children, the blessings that have come from a life shared with these children, and the strength and support that I need knowing I am not alone in this. Bryan and I are sure that we will love and support Cole to the best of our abilities, and raise him to have the most normal life he can. Please pray for the best-a healthy happy little man!