August 30, 2011

Being a parent is hard work....

Being a parent is hard work.... and it is even harder when you have an extra special little one and you have to make decisions that you'd never have thought you'd have to make for your child.

For example, a good friend whose little one has the same disorder as Ethan is facing the decision about when and where to do the little one's cochlear implant surgery. This is a decision that we will most likely face someday too... We are struggling with the decision about what to do about an experimental medicine that might help Ethan, but it hasn't ever been studied in PBD kids before.... so they don't know if it will really help or not... not sure what the side effects could be (although the medicine itself typically has few minor side effects) in kids with PBD..... The medicine is so expensive that the nurse at our genetics office couldn't get the distributer to even tell her how much it cost.... So we have so much to think about, pray about, and decide.

Last week, Ethan finally got his 1 year shots. Ethan had meetings with his hearing teacher, speech language pathologist, and occupational therapists. For the most part Ethan did pretty well in therapy and even showed off a little.

We took it easy on Monday morning, and went with Jeff to the Social Security office to begin the process of applying for disability for Ethan. While Ethan will most likely be denied, it is an important step we need to do. Zellweger Syndrome and NALD are on the Social Security Office's "Compassion" list, but since everything is income based.... I sure wish they would take in account all the expenses that come with having a kid with special needs, but they don't...

This morning we went to playgroup at BabyTalk. I am always happy when we get to go. Ethan's friends Will & Alex were there too. These boys and a few others who weren't at playgroup have been together for months. While it makes me sad that Ethan isn't where they are, it is so neat to know that the boys and my BabyTalk friends just see Ethan as Ethan. They know he is special and they are supportive and loving, even if they aren't able to relate to what we are going through. I'm also super excited that the "Special Connections" playgroup is starting next month!! I'm looking forward to that time with other moms who do "get it." Thank you BabyTalk for adopting us and helping my dream of a parent support group become a real reality!

We were supposed to go walking this afternoon with Sarah and baby Grace, but Ethan has decided to take a nap instead, which is just fine. Maybe we'll take a family walk this evening when Jeff gets home.

Tomorrow is Ethan's 1 year review of all of his Early Intervention services (IFSP). I think it is going to be a tough day for me. I know that Ethan is behind, but when I hear how far behind he is, it still hurts. One thing that I can't help but think about is that he is going to just keep falling further and further behind. Although he is making progress, he just can't keep up. It makes me sad, but I know that Ethan is exactly where he is supposed to be -- he is on his own timeline and schedule and he'll do things when he is ready. I am so thankful for his great team of therapists. I know that they care about Ethan and are dedicated to helping us help Ethan reach his fullest potential.

Prayer Requests
-Pray for all families and children impacted by PBDs.
-Pray for the doctors, researchers, and therapists who dedicate themselves to helping PBD kids. Pray for new treatments and a cure!
-Pray for miracles!
-Pray for Ethan's IFSP meeting on Wednesday. Pray that the team will be able to continue to meet Ethan's needs and that he will continue to grow and develop.
-Pray for wisdom for Jeff and I with the decisions we need to make regarding what is best for Ethan and our family.


August 20, 2011

Reality - Part 2

So, I guess it was pretty obvious that Friday was a tough day. I have those from time to time, I think we all do.

Friday afternoon Ethan had his one year pictures taken and he did amazing! It seems like it has been months since he smiled for the professional pictures. He did so well it was really hard to pick which pictures NOT to get. LOL :) I can't wait for them to come in!

Today we spent the whole day together as a family. We ran errands in the afternoon - bank, the mall, Panera Bread for lunch, and then to Target before heading home. Ethan even sat in the shopping cart at Target like a "big boy." This is a very new thing for us - and while I still won't try putting him in the shopping cart if it is just him and I (if we have to run into a store just the two of us I always take the stroller) we are trying to do this when Jeff and I are together. Overall, I think Ethan enjoyes the new perspective, but since we have to make sure to put the belt around his chest instead of his waist, otherwise he'd topple forward, I'm not ready to do it when it is just me.

Being that today has been a better day, and almost "normal" day, I thought I'd write more about the "reality" I live in....

1. God is good all the time, and all the time God is good! I know and trust that Jesus loves Ethan even more than we do. That He has a plan for Ethan and for us.

2. Ethan is going to be 13 months old in a matter of days. A year ago we didn't know if we'd make it to six months. I am blessed to be able to hold and hug and kiss my little boy. While only the Lord knows the exact plans He has, as of today Ethan is overall medically stable and doing very well in light of his diagnosis. Ethan can roll like crazy and he enjoys playing with toys and interacting with people. He can sit without support and usually doesn't have to much trouble eating (pureed baby food) or taking his bottle.

3. I have an amazing husband who loves the Lord, loves me, and loves Ethan. Jeff works hard and helps at home. I am very blessed that I am able to stay home with Ethan. I can't imagine not being able to be here with him every day.

4. I have a whole new "family" that I would have never known if it wasn't for this diagnosis. My fellow PBD parents are amazing people. Some have kids in heaven already and others have little ones still fighting PBD but regardless of where along this journey someone is, this family is there for each other. I also have found a calling -- as the Family Registry and Support Group Coordinator for the GFPD --- I can help other families who are facing this diagnosis not feel so alone. Remember, PBDs are more than twice as rare as Cystic Fibrosis.

Here is my reality....




I never knew I could love anyone so much until I became a MOM!



Prayer Requests
  • Please pray for peace and comfort for all families impacted by PBDs. Pray that those who do know know Jesus as their personal Savior and Lord would open their hearts and minds to Him.
  • Pray for treatments and a cure! Pray that the doctors, researchers and therapists would be able to find new and better ways to help our children and increase their quality of life.
  • Pray for miracles! They happen! Pray that Ethan will grow and develop that he will stay healthy. Pray that he will learn to crawl, and walk, and talk. Pray that he will be healthy, strong and happy.
  • Pray that I will have more good days than tough days, and that I will be able to always seek the Lord and not ask why, but "How will you be glorified?"
  • Pray that our family and other families that are believers would be a witness to others about the hope that we have in Jesus Christ.

August 19, 2011

Returning to Reality.....

It has been just over two weeks since we returned from the GFPD Family Conference. I think about the conference and the families I met in person all the time. I wish that the world was just that - full of families that understand each other and our very unique and special kids, but that just isn't reality...

Reality is what I experienced this morning at MOPS (Mothers of Preschoolers). The majority of people in my life have healthy, typically developing children. I will admit that I had a little breakdown this morning at MOPS, because my mothering experience is very different than those with healthy, typically developing children. I shared with the moms at my table that sometimes I just want to stand up and scream at people and say, "GET OVER YOURSELF! YOUR KID IS HEALTHY!" but I don't. It wouldn't make me feel any better even if I did, I know that. When people talk about building their family or "oops" I want to roll my eyes, because we won't be having any additional biological children and we aren't allowed to have an "oops." While it is true that we may adopt someday, that isn't an easy path and nothing is a guarentee... we have close friends who have had not one but two failed adoptions in the last year......

Reality is that my son has a rare genetic disease that affects every part of him and that we have no idea what life will be like for him or how long he will be with us....

Reality is that more days than not we have a therapy or doctors appointment.......

Reality is that the world doesn't understand.....

So, what have we been doing since arriving back in the "real" world....

Monday, August 8th
-Ethan had an appointment with Dr. Smith. The appointment was actually for his shots, that had to be rescheduled from two weeks earlier when he had a cold. But, he was still sick, so no shots for Ethan. Instead he was put on antibiotic for an ear infection...

Wednesday, August 10th
-We had our monthly playgroup/meeting for parents with children with special needs. I am really enjoying this new group of friends and I am so excited that BabyTALK has adopted our little group into an official BabyTALK program called "Special Connections."
-Ethan had PT and decided that he didn't want to work, at all! Luckily our PT is great and knows Ethan really well so she was still able to evaluate him, knowing what he usually does.... Ethan was being a real stinker...

Saturday, August 13th
-Ethan and I drove up to Clinton and walked in a 5K to raise money for Mitochondrial Disease research. Ethan's little friend, Mable, has a mito disease. Like, PBDs, there are no cures to these rare genetic diseases.
-That afternoon Jeff, Ethan and I went to a wedding and Ethan hung out in the church foyer with his grandpa during the ceremony. They got to see the bride before anyone else! :) Ethan was such a good boy! He especially had fun when I held him during the "chicken dance" at the reception.

Monday, August 15th
-Ethan had his monthly appointment with his dietitian. He weighed in at 21 pounds and 7 ounces and is 30 and 5/8 inches long. We talked at great length about Ethan's eating issues, and his difficulty transitioning to using a cup and more solids.... We are going to keep working on all of this stuff and he is going to start to take a more complete multivitamin to help bridge some of the gap...

Tuesday, August 16th
-Ethan and I went back to BabyTALK for the first time in what seems like ages. It was good to be back.

Wednesday, August 17th
-Ethan and I headed to Urbana to see the Geneticist. Ethan's Geneticisit was at St. John's in Springfield but now he is at Carle. Overall, he said Ethan looks good and that we'll plan on doing more blood work just to monitor everything after Thanksgiving (the last blood work was done at the end of May).

Thursday, August 18th
-Ethan had his OT eval today. At first he wasn't cooperating at all, but luckily he decided to work and show off his skills. Ethan met all of the goals that the OT had set for him from February, so it was time to set new goals for the next six months. OT will probably be increasing from twice a month to once a week starting in September.

Friday, August 19th
-We had MOPS this morning, as I mentioned earlier and this afternoon we have Ethan's one year pictures!


Prayer requests and pictures will follow soon....

August 5, 2011

2011 GFPD Family & Scientific Conference


2011 GFPD Family & Scientific Conference opening video: http://youtu.be/nDgwSc0M8nQ
Did you see Ethan? :)

Where do I even begin??? It was an amazing and emotional couple of days, that is for sure. Families from the U.S., Canada and even Australia were in attendance and the top PBD doctors and researchers in the country presented as well as specialists in the fields of hearing loss, vision loss, and deaf-blind education. Ethan even got to see the top two PBD doctors in North America on Tuesday morning where a PBD clinic was held.

There was so much information packed into a day and a half! It was great, and I'm glad they provided handouts, because it was information overload. Unfortunately, the bottom line is that there are still no cures for these disorders, and the only real "treatments" are treating symptoms as they appear - therapies, feeding tube if needed, etc. The researchers are continuing to work on possible treatments and have a few mouse models that they are working on. One of the main focus of research is on trying to find a way to increase peroxisome function. There is some hope that they may be on the verge of finding a way to do this, but it is still years away from human trials.

Even more than the information from the presenters, I was looking for the opportunity to spend several days with other families that "get it." While most of the families in attendance have children who are still fighting PBD, a few of the families have little ones already waiting on them in heaven. I was blessed so much by these very brave men and women who came and shared their lives with us. They are my heroes. One night several of us moms stayed up until 2am talking, sharing, laughing and crying. What a tremendous bond I have with women that I had never met in person until the conference. I miss everyone so much already.

Here are a few pictures from the conference weekend:

Ethan and his new friend TJ. We went to the zoo with TJ and his family.

Ethan and his friend Kenna. Her family went to the Omaha Zoo with us too! We feel very blessed because Kenna's family lives just 2 and 1/2 hours from us, so we'll get to visit with them often!



Jeff and Ethan swimming at the cookout/pool party held and Ethan's friend Sam's grandparent's house. Ethan loves the water!


Ethan's friend Jordan and his mom and dad. Jordan is a real cutie!

More friends! Katherine is 16 and lives here in IL and Sam just turned 9 and lives in NE. It is Sam's grandparents that have the pool. :)

Two very special women - Melissa and Carolina are great women of faith and amazing moms!

Here is a picture of opening night/dinner on Sunday evening. I miss everyone already!

This is from the rememberance/tribute to all of the little ones who are in heaven.

Here is a link to the memorial video: http://youtu.be/6fDo5wGVSjU