December 31, 2011

Christmas 2011 - Part 1

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!

December 23, 2011

Reduce the risk of genetic diseases before pregnancy with a DNA test!

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 information.

In our situation, if Jeff and I had both been tested prior to us beginning to build our family, the test would have been able to tell us that Jeff is a carrier of the G843D mutation. This mutation is one of the two most "common" mutations that are associated with PBDs. However, since the mutation I carry is a much more rare, the test doesn't screen for it. With the information that at least one of us was a carrier of a fatal disease it could have given us more options such as doing more extensive testing for me, etc. before trying to get pregnant, or preparing us for the possibility of a special needs child, or consider adoption as the path that we would build our family.

Please do not take this post the wrong way. We love Ethan! We know and believe that God has a special plan for our little man and for us as his parents. Plus, if we had "found out" during my pregnancy that our baby was going to be "sick" we would NOT have aborted our baby, but we would have been able to try to prepare ourselves and our families for the diagnosis. Please know that when our OB mentioned the "common" tests that are often done during pregnancy - for example testing for Down Syndrome or Cystic Fibrosis, I cried in her office - letting her know that we would love our baby no matter what!

I simply want to put this information out there because it may help someone make a more informed decision about how they want to build their family. Jeff and I know that we aren't willing to take the risk of a "natural" pregnancy again, so when the time comes, if the Lord leads us to have additional children we plan on adopting. For other families who find out they are carriers of genetic disorders they may make other choices such as: Preimplantation Genetic Diagnosis (PGD) with in-vitro fertilization (IVF); donor egg or sperm; or preparing themselves for the possibility of having a child with a genetic disorder by knowing their chances of having a child with the disease.

I know that some people may not agree with this proactive approach prior to pregnancy to know the risks of having a child with a deadly disease, and that is okay. But to those of you who are thinking of building your families (even if you've had healthy children before) you might want to consider getting carrier testing done.

December 18, 2011

Ethan does the "wiggle worm" crawl - December 18, 2011

video
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!

December 15, 2011

Matthew West song - "One Last Christmas"

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.

December 13, 2011

Liver Panel Results

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 hard to be the first one, now know if it could help, hoping and praying that it wouldn't hurt, etc. Today we are feeling encouraged that we made the right decision to go ahead and start the medicine, not waiting for the trial. Is the medicine going to enhance Ethan's quality of life? Honestly, we don't know, but we sure are praying that it will.

We are so thankful for our geneticist and his nurse for helping us obtain the medicine with the help of the National Organization for Rare Disorders (NORD) because without NORD paying for the medicine it wouldn't be feasible for us to get it for Ethan, as it is very costly. We are also so thankful to Dr. Braverman in Canada for her research and for her willingness to partner with our local geneticist, Dr. Schneider at Carle Clinic in Champaign, to try the medicine. They are both truly dedicated to making life better for the children they see.


10/11/2011
Baseline

11/10/2011
1 mo. of  treatment

12/12/2011
2 mo. of treatment

Normal Ranges
Albumin
4.2

4.9

4.0

3.8-5.4
Alk Phos
398 (H)

457 (H)

476 (H)

117-390
ALT
28

79 (H)

41 (H)

10-40
AST
66 (H)

126 (H)

83 (H)

6-36
Total Billi
0.5

0.4

0.4

0.0-1.0
Total Protein
6.5

7.0

6.3

5.6-7.5
Direct Bili
0.1

0.2

0.1

0.0-0.3

December 12, 2011

It has been a while....

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 developing children, but it is still so hard for me. I try to give these feelings over to the Lord, but it seems like I never feel at peace regarding all the "NORMAL" kids that "EVERYONE" seems to have.
  • Ethan has been busy with all of his therapies. Ethan continues to see the speech language pathologist, developmental therapist-hearing, occupational therapist and physical therapist weekly. Additionally once a month the developmental therapist-vision and the dietitian come to visit.
  • Just after Thanksgiving Ethan had another ABR (a hearing test) and he slept really well - he must sleep for the test because it measures the brain's response to sounds. We gave him melatonin to help him sleep. We started doing this nightly about a month ago. It has been so great. Ethan is getting the rest he needs, and wakes up such a happier little man. The hearing test showed that while Ethan's hearing loss is significant that at this point his hearing aids are still able to help him! This is great news. We will retest again in a year or sooner if we feel that there is a reason to do so.
  • Ethan had his first picture with Santa last week at a Christmas party hosted by BabyTALK. We love being a BabyTALK family. I am so thankful that they have embraced the idea of a playgroup/meeting for families of children with special needs. I am thankful for Special Connections and recently wrote a letter about the group that is being distributed to other families throughout our area. It is my desire that more families will get involved.
  • Ethan has been on the experimental medicine for two months. Just today we had blood work done. The liver panel came back, and while I don't have exact numbers yet, the geneticist called this afternoon and sounded encouraged. While the levels are elevated, they seem to have stabilized since last month. We were worried that they might double again but they haven't! Yippee! The results will be shared with Dr. Braverman in Canada and a decision will be made about what dosage Ethan will continue on. I'm excited that we have a go ahead for continuing the medicine. It is great news for Ethan, for us, and hopefully for all children with PBDs. Praise the Lord! Thank you for the prayers! The other tests will take a while for the results to come in as they have to be sent to Kennedy Kreiger Institute in Baltimore.

I seem to have a lot on my mind lately. Today, when we were at the hospital getting Ethan's blood work we had a quick visit with our geneticist's nurse, Laura. She's great! I gave her a Christmas card, and one for her to give to Dr. Schneider and just started crying. Last year there were thoughts that it might be Ethan's first and only Christmas with us. Now, Lord willing, in just a few weeks we will be celebrating Ethan's second Christmas. While I am overjoyed by this, my heart is heavy for all our families that won't be able to hold their little ones this Christmas. It has been a really hard year for our support group and more than a dozen families will be experiencing their first Christmas without their little one. My heart just breaks.....

Prayer Requests
  • All families impacted by PBDs. Pray that those who do not know Jesus personally will experience His love in a real way this Christmas season. That our focus will be on CHRIST this Christmas. That there will be revival and many will come to know personally the babe in the manger who grew up to be the man on the cross.
  • For strength and comfort for families that are hurting from the loss of their little ones.
  • For healing! For miracles! For a cure to this nasty disease! Pray for the therapists, teachers, nurses, doctors and researchers who have dedicated themselves to helping kids with PBDs.
  • Ethan will continue to stay healthy and continue to grow and develop. Pray that the medicine would work and that it will increase his peroxisome function. Pray that the medicine would be successful and that other children with PBD would be able to be helped by it as well.
  • Strength for Jeff and I as we love and parent our amazing little boy. Pray that we will always seek the Lord's guidance as we make medical decisions and other choices that will impact our family.
Thank you for your continued prayers, love and support.