Happy Holidays

I hope that everyone had a great holiday season. We sure dd!
Christmas Eve we celebrated with Bill's side of the family. It was nice. The kids love being with their cousins and it's great watching them play together. Tyler our nephew came up with a Lego compition the adults did for a prize he had brought. It was really cute and a lot of fun. I do have to say that Bill and I must not be very creative because our Lego skate park didn't even get one vote.
Christmas day is so exciting. I love watching the excitement of my turkey's. They woke up around 6:00 AM. I love it that Jocelyn came in to wake us up. "Mommy, Daddy Santa came it's time to get up." Then about 15 minutes later we hear the sound of Logan ripping off his boots to run out in the living room and see what goodies Santa left for them. This year was really nice because we stayed home. The kids got to open their presents and then play with them. It was a great day.
Our Christmas break was great. Not only were the kids off school all week but Daddy was home from work. We had a great time together. I sure wasn't ready for him to go back to work on Monday nor was I ready for the kids to go back to school today. I'm missing all three of them today. I guess all good things have to come to an end.
New Years Eve we celebrated with my side of the family. I had a really great time. Every year we do a white elephant gift exchange and this year I was the lucky one to get the gift my brother brought. I haven't lauged that hard in a really long time. Thanks bro for the good laugh.
We brought in the new year with just the kiddos snuggled up on the couch. When the ball dropped it was hugs and kisses. I couldn't ask for a better way to bring in the new year than that!

Medical update

On 12/7/2011 I went and had blood drawn to see if I am a carrier of Duchenne Muscular Dystrophy. The wait for the DNA results was NOTHING like waiting to find out if your child has a condition that will change his life. I don't worry about me as I do for my children.
On 12/22/2011 the report came back that I am indeed a carrier. The DNA report reads: Mutation detected. A deletion mutation in the DMD gene encompassing exon 46 was detected. The deletion mutation is the exact same as Logan.
There is so much that goes into genetics you really have to be a scientist to understand it. This is what I know.
Duchenne Muscular Dystrophy is recessive X-linked which results in muscle degeneration. Females and males are affected, though females are rarely affected and are more often carriers. The disorder is caused by a mutation in the dystrophin gene located in humans on the X chromosome. Female chromosomes are XX whereas male chromosomes are XY. This is why males are affected and females typically are not. Males do not have an extra X chromosome to make the protein dystrophin whereas females do.
What does this all mean that Momma bear is a carrier of the disease? Well at this point I'm really not sure. In doing some research I have read it can affect my heart. I have read that since I am a carrier I should have an echocardiogram to look for cardiomyopathy. At this point I'm not in a real hurry in getting answers. It really has been an overwhelming year and I really just want to give it a rest for a while. In time I will talk to the doctors to see what this all means.
The next step will be to have Jocelyn tested to see if she is a carrier. Bill and I have left it up to her if she wanted to be tested. She has expressed she does want to know. She has a 50/50 chance of being a carrier. If Jocelyn is a carrier this means that her children have a 50/50 chance of having the disease.
Please keep our family in your prayers. I ask that you pray for Jocelyn to not be a carrier and that my heart will not be affected.