Coop's Test Results

It's really late and I should be in bed.  However, since I am so far behind on my documenting our family happenings, I figured I better do a post about Cooper's test results.

As you know, back when I had my 36 week ultrasound with Cooper, there were some abnormalities with his femurs and humerus bones being shorter than normal.  The doctor went through all the possibilities with Zane and I, those being, Down's Syndrome, Trisomy 13, Trisomy 18 and Dwarfism.  After several weeks of waiting on our insurance to give us an approval to have the test (please note, that approval DOES NOT GUARANTEE they will pay for the test...will explain in another post), we got the approval Wednesday, August 2, 2012.  It took over a month to get the approval.  The reason it took so long, is because genetics tests are EXTREMELY expensive and a lot of insurance companies will not cover them.

After waiting for so long to get the approval, I figured it wouldn't be any different to wait to take Coop in to get the blood draw on Zane's day off.  I took Coop in on Tuesday, August 7, 2012.  I was SO proud of my sweet little guy, he didn't even cry.  They had to get anywhere between 1-5 cc's of blood, which meant they had to do a full stick blood draw.  Thankfully, they only had to poke him once, and in the one poke they were able to get just over 3 cc's of blood.  So grateful for such an experienced phlebotomist.  Now, another waiting game begins!

On Tuesday, August 21, 2012, the first day of school, it was about 10:25am and I got a call from Melissa, Dr. Judy's nurse, who said they had results from Cooper's microarray test.  I was super nervous, anxious, shaky, my head was spinning, I was feeling all sorts of emotions.  I picked Hunter up from school, took he and Paizlei across town to my friend Emily's to play while Coop and I went to the doctor to discuss the results.  We waited for what seemed like FOREVER...it was really only 5-10 minutes.  Once we were called back, it only took a few minutes for the doctor to come in.  He said there are two things going on in the test.  The first, he tells me, Cooper has Achondroplasia, the most common form of Dwarfism.  He goes on and tells me a little bit about it and the characteristics that are visible on Cooper, his prominent forehead, shorter limbs, short fingers, and low muscle tone.  Once he is done telling me about the Achon, he tells me the test also found a small deletion in chromosome 15, which that deletion is common/consistent in Autism.  That didn't really surprise me since Hunter has a medical diagnosis and educational classification of Autism.  The doctor didn't really spend much time on the deletion and went back to the Achon issue.  He said Cooper is going to be a Little People and wouldn't get much taller than about 4'3"-4'6".  He also explained to me because of how the spine grows, Cooper could have back problems such as spinal stenosis and could possibly need aids to help him walk.

After discussing the Achondroplasia for about 30 minutes, we left with a referral to meet with a geneticist  at PCMC.  I left the office with this unbelievably calm, at ease feeling.  I remember feeling and thinking, this is definitely going to be a long, trying journey, but we can do it.

As I have had time to let this all sink in and research it, I'm excited and nervous, but I know with every part of my being that we can handle this.  Just like our doctor (also our Bishop) told me when we were discussing the test results, Heavenly Father doesn't give us more than we can handle.  These words keep going over in my mind when I am having a rough day with the kids, or when I second guess myself on raising Cooper to the best of my abilities.  Already, I have met some amazing people on Facebook's LPOA Utah Chapter FB page.  They have been so great at answering my MANY questions, giving me suggestions, referrals, advice.  I'm REALLY excited for this journey and the AMAZING people we will meet on the way.