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...

Another little one with PBD has left the earthly arms of his parents for the heavenly arms of the Lord. Please pray for the Bartosiewicz family of CT. Their little one Justin passed away today. He would have been two years old on Wednesday. Justin Bartosiewicz, November 16, 2009 - November 14, 2011

We had a wonderful weekend visiting with the Gamble and Maag families. It was so wonderful to see our friends and their little ones. Melissa and Brant's daughter, Ginny is three. Shannon and Vicky have two daughters, Clancy who is healthy, and an amazing big sister to Kenna, who is also three and has PBD like Ginny and Ethan. These women and their families are a huge blessing to me and Jeff. Spending the weekend with them was just what we needed in the midst of all the hectic stuff with trying to get the house move-in ready. It also gives us so much hope for Ethan. While all three families know that the future truly is in the Lord's hand, it is encouraging to see two little ones that are thriving against the odds! Kenna, Ginny & Ethan at the St. Louis Zoo!

Ethan has been on the experimental medicine for a month now.... so we started this morning of with a fasting blood draw at DMH. In addition to the liver panel test he also had his blood drawn to check his ACTH and Cortisol levels. The liver panel is to check to make sure that the medicine isn't causing any adverse affects on his liver. As long as his liver panel results have stayed the same (they have been elevated since birth due to PBD) and have not worsened then we will begin slowly increasing the dose of Cystadane (betaine). The ACTH and Cortisol tests are routine tests that Ethan gets every six months to monitor his adrenal function. For children with PBD the risk for them to have adrenal insufficiency is high, especially after the age of 1. So, to be proactive, Ethan has his measured every six months so that if he ever develops this problem we can hopefully catch it quickly and begin treating it with the proper medication. Otherwise everything else has been pretty "nor...

Another precious little one is in the arms of Jesus today. Please pray for the Wolfe-Saunsoci family of Nebraska as their little boy Taysen has left this world for his heavenly home with the Lord. Please pray for strength and comfort that only the Lord can give. Taysen is the 16th child in our support group that has passed away this year. I hate peroxisomal biogenesis disorders (PBDs)! Taysen Lewis Wolfe-Saunsoci, May 13, 2011 - November 9, 2011

This year Ethan was a monkey for Halloween. We attended our church's "Eats Before Treats," and then headed over to Ethan's great grandparents' house to visit. We then headed home so Ethan could have some dinner. It was a great evening! Our little monkey! Daddy & Ethan at our church's "Eats Before Treats" Ethan and his cousin Grace visiting with their Great Grandparents.

Another little one with PBD entered heaven today. This has been a really rough week - I hate peroxisomal biogenesis disorder! While the Shephered family has hope because they know that their daughter, Kyarah, is with Jesus, their hearts and arms still ache. Please keep their family and all the families impacted by PBDs in your prayers. Kyarah, 1/11/2011 - 10/29/2011

Today was an up and down kind of day. The day started out on a high note with Ethan doing really well in Physical Therapy. I am so proud of him. I know that he is very behind in development compared to typically developing kids, but he is still making progress! Progress is progress, even if it is slow. We will continue to celebrate each and every little milestone, no matter when they occur. Later in the day we had a play date with a good friend and her two little ones. She is a dear friend that I've known for years and a fellow sister in Christ. She has two healthy, typically developing little boys. They are both very cute and are a true blessing to their parents. Unfortunately, it is becoming more difficult for me to be around parents of typically developing kiddos. Ethan has been behind since the beginning, but when babies are really little they don't do alot - but it seems like once they hit about six months typically developing kids zoomed ahead of Ethan and haven...

This weekend two more precious little ones left the arms of their parents for the arms of Jesus. On Saturday, little Chase who was just six months old, left this life for the next. Sunday he was joined by little Ilan, who was fourteen months old. It was a rough weekend for the GFPD family as we all know the devastating reality of PBDs, and grieve together for those whose arms can no longer hold their little ones. You may have heard or read some of the recently popular books - "Heaven is for Real" by Todd Burpo or "The Boy Who Came Back from Heaven" by Kevin Malarkey. I have read the first, but not the later myself. Since becoming a Christian I have often thought of Heaven, but not nearly as much as I have since learning that most likely my son will leave this earth sooner than I would like - that he will likely be waiting for me there instead of me waiting for him. "Heaven is for Real" is a great book that encouraged me in my beliefs about what the Bible...

Another little one with PBD entered heaven today - two in two days! This disease really sucks! Please keep their family and all the families impacted by PBDs in your prayers. Ilan Betzer, August 18, 2010 - October 23, 2011 http://obits.nj.com/obituaries/jerseyjournal/obituary.aspx?n=ilan-stanley-betzer&pid=154272553

Another little one with PBD entered heaven today. This disease really sucks! While the Barno family has hope because they know that their son, Chase, is with Jesus, their hearts and arms still ache. Please keep their family and all the families impacted by PBDs in your prayers. Chase Barno, 4/18/2011 - 10/22/2011

Ethan is strong enough now to use the bath seat that my mom got for him several months ago. He loves taking baths!

Ethan is in the proccess of learning how to bear weight through his legs, which will give him the strength to stand and someday walk! With the help of his AFOs and the knee immobilizers that the PT brought along with her, Ethan is able to bear weight through his legs and stand with support at the waist. Here are some pictures from last week in PT: Today in PT while Ethan wore his AFOs and the knee immobilizers he stood with support for over 20 minutes. Plus, his PT was able to let go of Ethan and he was able to maintain his weight for 1 SECOND! I know that standing for 1 second may not sound like much, but in our world this is a HUGE accomplishment. Maybe next week it will be for 2 or 3 seconds. Maybe by Christmas it will be 30 seconds! I think that is going to be one of my Christmas wishes :). We are so very proud of our little man! We love him so much!

This morning Ethan and I got in the car and headed north. We were on a mission to go visit our dear friends Mabel and Ramee. Ramee and I met back in the summer when I started to reach out to other parents in our area who have extra special little ones. We've talked online, on the phone, and met in person this summer when she hosted a 5K walk/run to raise awareness for rare disorders in honor of her beautiful daughter Mabel. Mabel is one week older than Ethan. She is so cute! We had so much fun visiting and talking about things that only "dragon moms" understand. [Please read previous post for explanation]. In the few months that we've known each other she has already become a dear friend to me, and is a beloved sister in Christ. I am so fortunate to have someone in my area as well as two amazing women (Mel and Vicky) who are just a phone call away that love the Lord. We know that God has an amazing plan for our extra special little ones and for us and that He loves ...

You might wonder what it is like being a mom or dad parenting a child with a fatal prognosis. This mom shares her views parenting her son with Tay-Sachs Disease. I think that her thoughts echo most "Dragon Moms." "Notes From a Dragon Mom"

The Cystadane (betaine) arrived this afternoon. Ethan will begin taking the medicine in the morning. Please pray for us - we are taking a huge leap of faith for Ethan and the future of all kids with PBD. Ethan is one of the first kids with PBD to take this medicine, we aren't sure that it will help, but they don't think it will hurt. It is scary to be one of the first.....

We are currently playing a bit of a waiting game... This morning I woke Ethan up early and put him in the car, PJs and all, and headed to Carle Clinic in Urbana. Ethan had to have baseline blood work done so that he can begin the Cystadane (betaine) medicine when in arrives in the mail. The test were "fasting" tests, so he had to wait to eat until after the blood draw. I hate blood draws, especially fasting ones because it can be so hard to find his little veins. They did have to stick him twice this morning, but he was a real trooper. He always is. He has been through so much in his 14 months. So now we are waiting for the medicine to arrive. Please don't be fooled, Cystadane is not a cure to PBD. Actually, they aren't even sure if it will "work" in kids with PBD. It has only been tested in the lab on skin fibroblast cells. So, Ethan is one of the first PBD patients to take the medicine. This scares me some.... but what scares me more is what if it does...

Ethan's ability to sit without support has continue to improve over the last few months. He is now trying to transition out of sitting by himself. Usually this simply means that he falls over, but he has been getting a little bit more control recently. I caught this on video this morning:

Today we headed to the pumpkin patch with friends from our Special Connections group. Special Connections is a playgroup sponsored by Decatur's Baby TALK designed specifically for parents and their children who have special needs (birth to age 5). I am proud to say that I was a driving force behind getting the group started and feel blessed to be part of an amazing group. Ethan's two buddies - Joshua and Mason's families joined us for the grand adventure!