The Journey We Are On.....

Here are just a few pictures from Christmas Day. We spent Christmas day at my parents' house. Ethan LOVES his Daddy. Ethan with his Great Grandpa and Great Grandma Troutt. Can we eat yet? Ethan's dinner - potatoes, sweet potatoes, green peans and pears... YUM! Grandpa Chambliss helping Ethan opening his presents. Ethan LOVES his Grandpa and Grandma Chambliss. At least one of us got a nap. Ethan and his new basketball hoop! Double dribble? Hello! Best seat in the house!

So, I know this isn't a typical Christmas season post, but I wanted to share it with all of my readers. As you know when Jeff and I planned on starting a family we had no idea that we were carriers for the disease that has now changed our lives forever. We love our son with everything we have, and know that Jesus loves him even more than that, but if we had know we were both carriers we may have made different decisions about how to build our family. An affordable way to be tested as a carrier of many genetic diseases is now available. Many insurances will cover the testing, and if your insurance doesn't the test is less than $400 to screen for over 100 diseases. Please note - it usually tests for the most common mutations, and therefore cannot be a guarantee to detect ALL possible genetic mutations that you are a carrier for, but if you are considering having children, I would HIGHLY recommend looking into the test. You can check out the website for Counsyl for more informa...

We are so proud of our little man. This morning in the church nursery he "wiggled" forward with purpose a little over a foot! I was so thankful that I was there to see it. I cried, as did our friends in the nusery. Later this afternoon Ethan "wiggled" to Jeff, and I was able to catch it on video! Enjoy!

Make sure you have some tissue handy when you watch this video. I heard this song for the first time today. While we feel blessed that we will, God willing, be celebrating Christmas with Ethan here on earth this year, many of our close friends from our GFPD family will not. While this video is about a little boy who passed away due to cancer, it is very close to home for Jeff and I. Please don't take your little ones for granted.

For my fellow PBD families that may be interested in the "numbers" they are below. While we know that Cystadane (betaine) is not a cure, it may be a possible treatment option for children with PBDs. We still don't know if it is "working" but since the liver levels seemed to have stabilized we will plan to continue the medicine. It is our hope that after six months of treatment that their will be a biochemical change, such as the lowering of Ethan's Very Long Chain Fatty Acids (VLCFAs) that will be a significant enough to say that medicine is "working." At the present Ethan is the only child with PBD that we know of that is taking Cystadane, so right now he is a case study of one. It is the hope that within the next few months to a year that an FDA approved trial will be up and running that will include a small number of kids with PBD. It was hard for us to decide to go ahead and push to get Ethan on the medicine before an official trial. It is ...

It is hard to believe its been nearly a month since my last post. I've thought of writing often, but just haven't made the time to do so. We've been busy. In the middle of November we got the keys to our new house and started working on making it ready to move in. It takes a lot of work to bring a house that was built in 1965 up to 2011, almost 21012. With a ton of help from family and friends we were able to spend our first night in the house the Wednesday before Thanksgiving. The work has continued and there is still more stuff in boxes than out, but we are very happy and excited about having a house that will be accessible for Ethan when he is able to start using a walker and if a time ever comes that he needs a wheelchair. Over the Thanksgiving weekend we were able to spend time with both sides of the family. It was nice to see family, even though it is still very hard for me, since there are so many little ones. I am thankful that everyone else has healthy, typically...