May 31, 2012

Glasses --- Take 2

Last night we picked up Ethan's new glasses. Today he wore them for almost two hours in the morning, an hour in the afternoon and 45 minutes in the evening.

May 30, 2012

Broken Hearing Aid....

Ethan broke his right hearing aid today when he yanked it out of his ear! BOO!

The audiologist is sending us a new piece and if I can't get it fixed we do have an appointment scheduled with the ENT on June 11th. We were just over there last week.... URG!

Moments like this remind me that despite all the challenges, Ethan is still a almost 2 year old boy who has a mind of us his own.

In the arms of Jesus...

Corey Sheppard
March 28, 2012 - May 27, 2012

Sunday morning I got a text from my new friend Jeanine letting me know that her precious Corey had passed away. I was crushed. You may remember that just a few short weeks ago Ethan and I had the honor of spending an afternoon with Jeanine and Corey (and Corey's big sister Casey and their grandma). While I know the reality of this disorder it hit me especially hard because Corey is the first child with PBD that I've met in person who has passed away.

On Monday evening Ethan and I drove to my parents house so that we could attend the visitation and funeral on Tuesday morning. I am so thankful that my mom was able to drive us and go with. The three of us attended the visitation and then my mom and Ethan went for a walk while I attended the funeral service. I was blown away by the number of people who knew Ethan and about us. Sometimes people come into your life that you instantly have a connection with. From the first time that Jeanine and I talked on the phone I felt this with her -- we just clicked. It was one of those "we'd be friends even if it weren't for this nasty disorder," sort of thing. Jeanine is a teacher, a mom, a wife and a fellow sister in Christ. She and I have a lot in common and although we'd only spent a few short hours with each other a couple of weeks ago it felt like we'd known each other so much longer. Funny how that sometimes works.

The memorial service was a celebration of Corey's life and the impact that she had on all who knew her and those that will still be touched by her legacy and her parents. Corey's parents and family have a strong Christian faith and know that Corey is now in heaven, completely healed in the presence of Jesus, and that they will see her again someday. This assurance gives believers hope, but it does not take away all the pain. We still grieve. In Psalm 31:9-10, we read David's words in a time of great struggle: "Be merciful to me, Lord, for I am in distress; my eyes grow weak with sorrow, my soul and body with grief. My life is consumed by anguish and my years by groaning: my strength fails because of my affliction, and my bones grow weak." As I listened to the ministers share the hope that believers have in Jesus and that we don't have feel hopeless because Corey is not lost, we know where she is, I tried to cling to those words (which I know deep in my heart and soul, but it is still good to hear) as I sat crying,  knowing the reality of this awful disease that took Corey will someday take Ethan.

One of the ministers shared a well known passage, Psalms 139:13-18 (below) and shared his opinion/thought that just maybe when Corey met Jesus she may have said something similar to Him.
"For you created my inmost being' you knit me together in my mother's womb. I praise you because I am fearfully and wonderfully made; your works are wonderful, I know that full well. My frame was not hidden from you when I was made in the secret place, when I was woven together in the depths of the earth. Your eyes saw my unformed body; all the days ordained for me were written in your book before one of them came to be. How precious to me are your thoughts, God! How vast is the sum of them! Were I to count them, they would outnumber the grains of sand - when I awake, I am still with you." I have often read these words and found comfort in them knowing that as Ethan's mom, Ethan is not a mistake and that God knew exactly who Ethan would be and that He loves Ethan even more than Jeff and I do (which is of course pretty hard to imagine).

I've been a Christian for most of my life. I first prayed for Jesus to be my savior when I was around 8 or 9 years old. In high school my faith grew and I began to understand more of the importance to let Jesus be LORD and Savior -- that it wasn't just about having "fire insurance" and the assurance of heaven but also about daily understanding that God has a plan for your life and that He loves you and cares about you and although He already knows what you are going through He wants you to talk to Him about it and seek His guidance, wisdom and ways. During college my relationship with the Lord continued to develop - I even spent some time looking at the doctrine of the church I attended to make sure I actually believed what the church did, etc. After college when Jeff and I got married we had to make a choice about where to attend and have been blessed by being part of a body of local believers. Our church family loves us and Ethan and while for most of them it is still very hard to understand the journey that we are on, we are very thankful that we have their support on this journey.

I am so thankful that my friend Jeanine has this type of church family support as well. As I listened to the pastor share about how Corey had touched him and the church I couldn't help but thinking about Ethan and all the children with PBD and how they have a way of touching so many people in ways that we may never even realize. While I struggle a lot with everything that comes with this diagnosis, I know that there is a purpose for Ethan's life, just as there was for Corey's. I will continue to cling to God's promise in Romans 8:28, "And we know that in all things God works for the good of those who love him, who have been called according to his purpose." and the hope that I have because of His great love for us. John 3:16-17, "For God so loved the world that He gave His one and only Son, that whoever believes in Him shall not perish but have eternal life. For God did not send his Son into the world to condemn the world, but to save the world through him."

Yesterday was tough......

Prayer Requests

  • Pray that people will come to know how much God really loves then and that there is hope in Jesus.
  • Pray that the Lord would be glorified in the lives of Corey, Ethan, and all children and families whose lives are forever changed because of PBD.
  • Pray for my dear friend Jeanine and her husband Bill and their daughter Casey as they mourn the loss of Corey. 
  • Pray for all families impacted by PBD.
  • Pray for the doctors, researchers, nurses, therapists and teachers that are doing their best to help us love and care for our children. Pray for miracles. Pray for healing, pray for new treatments and a cure.
  • Pray that Ethan will continue to stay healthy and that he will grow, develop and learn new things.
  • Pray that the new higher dose of Cystadane would cause an increase in the function of Ethan's peroxisomes and that the clinical trial that would include more children would get up and running soon.
  • Pray that Ethan would be able to get the rest he needs at night (bedtime continues to be stressful and a real struggle).
  • Pray that Jeff and I will be able to be the parents that Ethan needs and deserves.

May 25, 2012

Walker Workout - May 25, 2012

Ethan is loving "moving" in the walker. What he lacks in form he makes up for with his enthusiasm. We'll be talking with his physical therapist this week when we see her to see if a different walker or a gait trainer could provide him with the extra support he needs to help him develop a proper step/walk.

May 24, 2012

Walker Workout - May 24, 2012

Ethan is spending a couple more minutes each day in the walker. He's working on bearing weight through his legs, and he has learned that he can make it move! He isn't taking steps the correct way yet, but we'll get there. Here is his workout from today.

May 21, 2012

Eye Doctor Visit - May 21, 2012

Ethan went to a new eye doctor today. 

Last year we made the long trip to Iowa to see a retina specialist and then he referred us back to St. Louis Children's for a doctor there and for glasses. Ethan wore his glasses for just a short while before he completely refused to keep them on. Every time we'd put them on he'd pull them and his hearing aids off. So, eventually we just decided not to fight it because we knew he could see some, and without his hearing aids he can't hear that much at all. So we picked our battle.

We wanted to try to find an eye doctor that wasn't as far as St. Louis, and we had already had a visit when Ethan was just a few months old with one of the doctors in our area - which we didn't like, so we weren't sure what to do. But, a few months ago a friend, who has a little boy just two months younger than Ethan who has cerebral palsy, told us about the doctor she took her son to in Champaign, so I called and made an appointment. 

Today, Ethan say the doctor. He seems really nice and said he'd heard of PBD before, which was pretty impressive to me. Ethan did not enjoy the exam and was really agitated for most of it, but we did find out a few things. Since last year Ethan's farsightedness has gotten worse; his right eye is much stronger than the left which is starting to cross and not be used as much; he has the beginnings of some very small cataracts and there is some slight pigmintation on his retinas now. For the farsightedness he wrote a stronger prescription for glasses --- if only we can find a way for Ethan to wear them and not rip them and his hearing aids out..... to strengthen his left eye the doctor has instructed us to put dialating eye drops in Ethan's right eye to force him to use the left eye. I have no idea how in the world I am supposed to do this since it took two people (myself and my father in law) to hold Ethan down while a nurse put drops in his eyes today at the doctor's office! After talking to a good friend I have even more questions and concerns about this plan of action. The doctor will monitor the cataracts, he said that they are very small and aren't bothering Ethan's vision at this time and he couldn't say if they would need to be removed when Ethan was 3 years old or 30 years old - we'd just have to wait and see. There isn't anything that can be done about the retinas either and at this point they too will simply be monitored for change over time.

So, tomorrow we'll begin the process of trying to get someone to put the stronger prescription in the Miraflex glasses frame we already have and also look and see if perhaps Ethan would tolerate a different type of frame better. LOL 

I'm afraid what we may have to do is take turns wearing glasses part of the day and wearing hearing aids the other part of the day. I really don't like this idea, but if we can't get him to wear both at the same time, I'm not sure what else to do. I'll keep everyone posted about this battle.... 

Prayers are greatly appreciated!!

May 20, 2012

Walker Workout - May 20, 2012

Although it may still be a while until Ethan is really walking with the walker we are trying to get him to spend a few minutes in it each day so he can get familiar with it and work on getting strong enough to use it.

May 19, 2012

Grandpa Chambliss visits - May 19, 2012

My dad was in a fishing tournament today at Lake Shelbyville, so after he was done he stopped by to see us and Ethan. Ethan and his Papa had a great time visiting. They played and and played, Ethan showed off in his walker (he's not really ready for the walker yet, but he's trying), and even got to get into a boat for the first time.

May 16, 2012

A Good Day

Ethan has his weekly speech session on Wednesday mornings at 8am, so we get started really early each Wednesday. Ethan's recently found mobility (this boy can combat crawl anywhere he wants to go) has been making speech a bit more difficult, so today we put his AFOs on and stuck him in his stander. Ethan did really well, tolerating the stander for 45 minutes! I was so surprised by this since he has given Jeff and I such a hard time about being in the stander. Ethan will just fuss and cry and fling his head back when it is just us. So, we already had a small victory for the day by 9am!

After speech Ethan and I had a good morning here at home. Boy, does this boy LOVE his toys. Despite all the stuff that I struggle with in regards to Ethan's diagnosis and all the things that are just so very hard for him because he has PBD, one of the things that I am so grateful for is that Ethan loves to play. I know that seems like such a simple thing (babies and kids should just naturally enjoy playing, right?) but that isn't neccessarily the case for all children with significant special needs, especially if children have combined hearing and vision loss. So, while I can get discouraged because Ethan is still playing with toys for designed for children 6 months old to a year and almost all 18 month or 24 month toys are way to advance for him, I try to remember and celebrate how much he does enjoy playing and that that is a major accomplishment for a child who has so much to overcome.

In the afternoon we had a previously scheduled appointment with Dr. Smith, a 21 month well-visit, if you will. We were very glad we had this already scheduled since we'd been there on Friday when Ethan was running a fever and although he said it was either just a virus or his teeth, and although the fever has gone away we had a few things we needed to share. 1) we wanted to talk about the rash that Ethan has been developing and 2) we wanted to share about yesterday's appointment with the geneticist and 3) we wanted to again talk about Ethan's sleeping habits. 

Before the doctor could see Ethan we were waiting in our room and Ethan began to get really restless. He wanted DOWN and he wanted to MOVE! So, as gross as this is, I took him out into the hallway and let him lay down and crawl around. While I still don't like germs, because we can't take Ethan getting sick lightly, I don't regret letting him play. Several of the nurses came by and played with Ethan and one of the nurses who has been with us from the very beginning of this journey, nurse Karen, played Ethan's "tapping" game with him -- Ethan taps his hands and we tap our hands on the table or ground and then he mimics. He has also started taking turns putting his hand on top of ours and vise versa. Ethan was giggling and having a great time NOT being in my arms.

On Monday, Ethan began to develop what appeared to be diaper rash. On Tuesday morning the rash/pumps/spots were spreading and by Tuesday afternoon, while at the geneticist, it had spread to his torso, arms, and legs. We were freaking out, the doctor and the nurse were pretty calm though.... we discussed that Ethan had just begun taking Walnut Oil last week and that perhaps it was a nut allergy. The doctor thought it was more likely a "viral rash." After talking to my mom and my friend Melissa I was sure it was a nut allergy!! So, needless to say Ethan did not get his dose of Walnut Oil yesterday or today. By bedtime last night the rash/spots were fading some and by this morning it was looking even better. So, I explained to Dr. Smith and he looked at Ethan and thought that is was most likely a "viral rash," and not a nut allergy as well. He is not going to pursue any allergy testing at this time and has instead suggested that we reintroduce the Walnut Oil in about a week or so and see what happens. So, that is the plan!

Dr. Smith seemed saddened as well that we hadn't seen any significant changes in Ethan's blood work but also tried to reassure me about how good it is that his liver and adrenal functions are basically "normal" and that overall Ethan is a very healthy child given his diagnosis. We also talked about increasing the dosage and he thought that sounded like a good plan and he shared with me, as he always does, that I'm a good mom and doing a great job with Ethan. I need that little reassurance every once in a while, because sometimes it is hard to feel that way. Dr. Smith is a great doctor and an amazing man of faith and to know that our doctor is praying for Ethan is so special to us.

When discussing Ethan's sleeping, or more correctly - he's difficulty in falling asleep at night, Dr. Smith agreed that the 2mg of melatonin was an appropriate dose given Ethan's size and suggested that we try a small dose (1 teaspoon) of children's benadryl in addition to the melatonin. 

Ethan fell asleep on the way home from the doctor's office and stayed asleep when I transferred him to his crib, which was great because that allowed me to start getting ready for the dinner/fellowship we had tonight at our friends' Todd and Amy's house. In addition to being our friends, Todd is our family's deacon and he had invited all of the families "assigned" to him over for dinner and a time of fellowship. It was a great relaxing evening visiting with our church family. We even found out that one couple had gone to St. Thomas last week to get married! They hadn't told us that that was what they were planning!! Ethan ate well while were were there and he did really well playing with just a few of his toys that we brought along and being in an unfamiliar place with so many people. We did keep his hearing aids out though because it was really loud with so many people and especially all the kids running around.

When we got back home this evening, it was time to get Ethan ready for bed and we decided to give the benadryl and melatonin mix a shot -- I however decided that we'd only do half the normal dose of the melatonin and half of the doctor's recommended dose of benadryl, just to see what affect that would have and if that would be enough to help Ethan get the rest he so desperately needs. After we fixed a problem with the bottle (Ethan was sucking but nothing was coming out) it seemed like Ethan was going to be out for the evening, but then he stopped drinking and was somewhat awake. I went ahead and laid him down in his crib and he cried for about 6 minutes before falling asleep! He was asleep just a few minutes after 10pm! So, we'll have to just wait and see how the rest of the night goes and how he's doing when he wakes up in the morning. I am so glad that we went with a smaller dose!

After Ethan was in bed I checked in with my GFPD family on Facebook and found out some wonderful news. A family who had been told several months ago that their daughter had PBD, was told today that after running further tests that their daughter actually does not have PBD! So, they go back to her being undiagnosed and looking for answers, but we are so thankful that it isn't PBD and are hopeful that maybe it will be something that has some treatment options and isn't a recessive trait related, because the family also shared that they are expecting!!! 

Overall, it was a pretty good day! We need those around here. 

Prayer Requests
  • Pray for all families impacted by PBD. Pray that they would know and feel the Lord's peace, hope and strength on this difficult journey.
  • Pray that people will be touched and the world changed because of our kids. Pray that lives would be impacted for the Lord because of Ethan (even if we don't see it this side of Heaven).
  • Pray for a miracle! Pray for treatments and a cure! Pray for the doctors, researchers, therapists and teachers who are trying to help us help our kids reach their fullest potential.
  • Pray that the increase of the dosage of Cystadene would have a positive impact on Ethan and we would see evidence of that in his blood work the next time it is checked.
  • Pray that once we can switch back to an algae-based DHA we would see a decrease in Ethan's phytanic and pristanic acid levels back to normal.
  • Pray that Ethan would continue to grow, develop and be a happy healthy boy.
  • Pray that Jeff and I would continue to seek to honor and please God as we raise Ethan, whom He has entrusted to us.
  • Pray that Ethan would be able to get the rest he needs each night and that bedtime would no longer be so stressful or such a fight.
  • Pray for the upcoming GFPD Family Support Conference this summer in Orlando, FL. Many families are still trying to raise the money needed to attend the conference. Please pray that all of the families who want to attend will be able to. Pray for Shannon, Melissa and the GFPD Board of Directors as they continue to finalize all of the details. 

May 15, 2012

Results = Underwhelming and Inconclusive

So, today was the BIG day we've been waiting for....

Well, in many ways it was very underwhelming and the results pretty inconclusive. There were are few small improvements but nothing really significant and a few of the numbers were actually a bit worse, but we might know why for some of them.

Ethan's VLCFA Levels

Normal Controls


2 months of Cystadane treatment

6 months of Cystadane treatment
C26:0 Hexacosanoic
.23 +/- 0.09



.18 +/- 0.09



Phytanic Acid



Pristanic Acid



C 22:0
20.97 +/- 6.27



17.59 +/- 5.36



C22:1 (n-9)
1.36 +/-0.79



0.84 +/-  0.10



0.01+/-   0.004




*The doctor believes that the elevated Phytanic and Pristanic Acid levels are due to the fish-based DHA that we have been giving Ethan. For the last month of so we have not been able to find an algae-based liquid form and therefore have had to give him the fish-based. Luckily, this afternoon, a fellow mom in our GFPD group shared that she had found one, so we've placed an order. Hopefully once we are able to switch back to the algae-based vs. the fish these levels will go back down.

Ethan's Plasmalogen/Fatty Acid Ratios (Mean)

Normal Controls


2 months of Cystadane treatment

6 months of Cystadane treatment
C16:0 DMA / C16:0 Fatty Acid



C18:0 DMA/ C18:0 Fatty Acid




*The doctor isn't really sure why there was a decrease in these numbers. It was only very slight, and he isn't really concerned, but we just don't really know why there has been a decrease.

So, what do we do now?
Well, our doctor is going to share all of the results with Dr. Braverman and they are going to decide how much we should increase the dose of Cystadane. Since Ethan's liver function levels, cortisol and ACTH levels are all staying stable and it doesn't appear that Ethan is having any adverse reaction to the Cystadane, we are going to push the dose up to see if we can get some more results. We should here back about the increased dosage sometime this week.

How am I feeling?
A little down. I knew that this wasn't going to be a "cure" and that the test results wouldn't come back and the doctor say, "I don't know how to tell you this but all of Ethan's test results came back NORMAL." but we were of course praying that we would see a significant improvement in the blood work. I am glad that we have a plan in place and we aren't going to give up trying to see if Cystadane is a medicine that could made a difference. I am thankful to even have this opportunity to try to see if there is something out there that will help improve Ethan's quality of life (and the quality of life for all children impacted by PBD).

May 12, 2012

A tough couple of days....

It has been a tough few days around here....

  • We got a huge water bill and found out that one of our toilets has been running nonstop and needs fixed.
  • The oven stopped working correctly this week.
  • Ethan didn't fall asleep on Thursday night until 2:30am on Friday morning. At 2am we put him in the car and drove around!
  • Friday afternoon Ethan started running a pretty high fever so we headed to the doctor's office. Doctor Smith said it was either a virus or related to the teething and to just keep treating with Tylenol and ibuprofen. 
  • On the way home from the doctor's office we got a flat tire! Jeff came and got us and he took Ethan and I home and then headed back to change the tire and then take it to Walmart to buy a new one.
  • Ethan was fussy much of Friday evening and didn't go to bed until 11:30pm (with us) so I didn't sleep well at all.
  • And we are still waiting for text results.....
Today was much better though....
  • We all slept in! And although Ethan was still a bit warm he was acting much more like himself. I really think it is his teeth. The poor little man has been working on those top two teeth for so long!!
  • We worked on laundry and dishes and spent time as a family.
  • A friend came over and helped Jeff fix the toilet. 
  • Jeff's parents came over and watched Ethan so Jeff and I could go to Sears to look at ovens. We found one and it will be here on Thursday, so we'll be doing lots of microwave, toaster oven, skillet, and crock pot meals for the next couple of days - which won't be bad. When we got home we all enjoyed pizza for dinner and Ethan at really well for the first time in a few days -- eating all of his carrots, peas, and pears. It was a good day!
Prayer Requests
  • Pray that Ethan will finally cut his top two teeth and feel better. 
  • Please pray for me, all mom's of extra special little ones, and all mom's whose little one's have gone to heaven before them - Mother's Day is very difficult for many of us.
  • Pray for us as we continue to wait for test results. Pray that the Cystadane has been working and that we will see improvements in his labs.
  • Pray that Ethan will continue to grow and remain healthy and develop physically and mentally.
  • Pray that the doctors, researchers, therapists, and teachers will find new ways to help us help kids with PBD reach their fullest potential. Pray for miracles, pray for treatments and for a cure! 
  • Pray for the world to be more understanding of kids with special needs and parents of children with special needs.
  • Pray that more people will put their trust in Jesus!

"God Chooses Mom for Disabled Child" by Erma Bombeck

I don't think this is exactly how it works, but I had to share anyway. I believe with all my heart that God does not make mistakes, and although I will fully admit that it hurts my heart that any child is born (or develops) disabilities and/or life threatening illness, I know that God is sovereign and that He has a divine plan (even when we don't understand it!). I believe that God brought Jeff and I together and that He knew Ethan even as he was growing inside of me. While this is not the journey we would have dreamed of or chosen, and there are going to be times (and have been already) when we struggle, stumble and fall  it is our hope that in the end that we will bring glory and honor to the Lord. 

God Chooses Mom for Disabled Child
Written by Erma Bombeck Published in the Today Newspaper Sept. 4th, 1993
Most women become mothers by accident, some by choice, a few by social pressures, and a couple by habit. This year, nearly 100,000 women will become mothers of handicapped children.

Did you ever wonder how mothers of handicapped children are chosen? Somehow I visualize God hovering over Earth selecting his instruments for propagation with great care and deliberation. As he observes, he instructs his angels to make notes in a giant ledger.
"Armstrong, Beth; son; patron saint, Matthew.
"Forrest, Marjorie; daughter; patron saint, Cecelia.
"Rudledge, Carrie; twins; patron saint.... give her Gerard. He's used to profanity.
" Finally, he passes a name to an angel and smiles, "Give her a handicapped child."
The angel is curious. "Why this one, God? She's so happy."
"Exactly," smiles God. "Could I give a handicapped child a mother who does not know laughter? That would be cruel."
"But has she patience?" asks the angel.
"I don't want her to have too much patience or she will drown in a sea of self-pity and despair. Once the shock and resentment wears off, she'll handle it."
"I watched her today. She has that feeling of self and independence. She'll have to teach the child to live in her world and that's not going to be easy."
"But, Lord, I don't think she even believes in you."
God smiles. "No matter. I can fix that. This one is perfect. She has just enough selfishness." The angel gasps, "Selfishness? Is that a virtue?"
God nods. "If she can't separate herself from the child occasionally, she'll never survive. Yes, there is a woman I will bless with a child less then perfect. She doesn't realize it yet, but she is to be envied. She will never take for granted a spoken word. She will never consider a step ordinary. When her child says "Momma" for the first time, she will be present at a miracle and know it! When she describes a tree or a sunset to her blind child, she will see it as few people ever see my creations." "I will permit her to see clearly the things I see---ignorance, cruelty, prejudice--- and allow her to rise above them. She will never be alone. I will be at her side every minute of every day of her life because she is doing my work as surely as she is here by my side."
"And what about her patron saint?" asks the angel, his pen poised in midair.
God smiles. "A mirror will suffice."  

May 8, 2012

Visiting Baby TALK's STEPS Program

Ethan and I had the opportunity to visit Baby TALK's STEPS program today. The STEPS program is sort of a pre-preschool program for kids with special needs. It is our hope that Ethan will start the program in the fall. He would go for three hours a day, twice a week. He would get some of his therapy services "at school" - most likely OT and Speech as well as developmental therapy and would continue to get the rest of his services at home until he turned three years old and would start receiving services from the school district.

Here is the description of the program from the Baby TALK website:
STEPS (Success Together Experiencing Play and Stimulation) is a program with provides family-centered service designed to meet individual needs of the children enrolled in the early intervention and/or Macon County Family Literacy program. STEPS provides a blend of educational and therapy services withing the context of a developmentally appropriate curriculum as families are supported in building nurturing relationships with their young children. This program includes physical therapy, occupational therapy and speech therapy (provided by a local hospital) as well as developmental therapy provided by Baby TALK.

We had a good visit. We stayed for over an hour. Ethan's OT and SLP both provide services to kids at STEPS and there were there working with kids. The DT that facilitates our Baby TALK Special Connections group also works in the STEPS program so she was there as well. Ethan played and then had snack at the same time as the other kids. We strapped him into a little rifton chair and scooted him up to the table with the rest of the kids. He looked like such a big boy and while the other kiddos ate their snack I fed Ethan his applesauce. 

There are typically 9 to 11 students in a class and each class has two DTs, and two assistants and then the PTs, OTs, and SLPs, push in and work with kids one on one as well, so there are lots of adults and hand for the little ones. We were offered a chance to have Ethan already begin the STEPS program but we have known since we learned about the program and put our name on the list that we wanted to wait until Ethan turned 2. So we are hoping that in the fall, either August or September, that Ethan will start "school." I think it will be great for Ethan and for me. I also think it is going to be very hard for me! Since I've been able to stay at home with him I have not had the experience of leaving Ethan with a babysitter or daycare on a regular basis. But I've talked with several parents whose kids have been part of the STEPS program and they have just raved about how much progress their kiddos made and that the kids seemed to really enjoy being at "school."

Even as I write this it is hard for me to think that I am feeling so sure that Ethan will be here in the fall to start the STEPS program -- while none of us are guaranteed tomorrow, as a mom of a child with a diagnosis like Ethan has, it is really hard to think of the future because there aren't many "happy endings" to PBD, but as of now, Ethan is doing pretty well. As I watched Ethan play on the floor with toys during our visit and then watching him sit at the table with all the other kids just made me realize how far he has come (and of course how much more I want for him) in the last 21 months. 

Even in these moments when things seem to be going so well, the reality of PBD isn't far from my mind but only the Lord knows the plans He has for Ethan and how long we will have Ethan here with us, but I am cautiously optimistic about the immediate future for Ethan (but I will admit that I can't/don't allow myself to think much past preschool years at this point in the game).

May 7, 2012

Mountain tops and valley floors

This has been a week of ups and downs and I feel like I've been on a roller coaster. There have been moments of great happiness, joy, and blessings and moments of deep sadness and sorrow.

Last Sunday night we put Ethan to bed with anticipation of Monday morning's blood draw. Ethan and I headed to the hospital early that morning with him still in his pajamas. He has been on the Cystadane for six months and it was time to see if the medicine was "working." In addition to testing to see if there had been any improvement in Ethan's VLCFA and plasmalogens, blood was taken for the liver function panel, ACTH and cortisol (which measures adrenal function) and also to check vitamin K levels. Ethan was a real trooper and did great. He didn't like being held down of course, but I am always so proud of him. We also had a great talk with the geneticist's nurse who cares deeply for Ethan and who worked so hard to get Ethan on the Cystadane.

After returning home Ethan had his weekly appointment with his DTH, Julie, from the Illinois School for the Deaf. It was a good visit and Ethan was "talkative" and although he didn't want to activate/play with some of the toys he did show of his ability to transition from the floor to sitting. Later that afternoon Jeff's dad came over  and he and Ethan played together while I ran to the grocery store.

I also received an email that day from a newly diagnosed PBD family. As the volunteer Family Registry and Support Group Coordinator for the GFPD I get these on a pretty regular basis but this time the family was from southern Illinois. I emailed the family and then called them later that afternoon. I got to speak with my new friend Jeanine and learn about her daughter Corey. We even made plans for us to meet on Wednesday when Ethan and I would be in their area.

On Tuesday morning Ethan and I packed up and headed for Mt. Vernon. My cousins from the Atlanta area were going to be visiting and we were excited to see them as well as our new friends Jeanine and Corey. It was such a "God moment" that we got the email from her a day that we were going to be in their area! At least I sure believe it was a divine appointment.

While we were on the road the nurse from the geneticist's office called and shared that Ethan's liver panel had came back and while some of the levels were slightly elevated they were really great for Ethan and that doctor was very pleased. The ACTH and cortisol results weren't in yet, but she said she'd call when those came in.

Tuesday afternoon after unwinding a bit at my parents' house Ethan and I met up with my cousins so that my cousin Mike could try to get some pictures of the four great-grandkids  (ages 5 years old, 2 and 1/2 years old, 21 months and 16 months) for our grandparents. Let's just say he was successful in getting all of the children in a frame, but getting all four of them to cooperate was a totally different story. I know I am probably a little bias, but Ethan really did the best  -- he may have never smiled but at least he wasn't crying or running away.

Tuesday evening we enjoyed a meal out with the cousins, my parents, my sister, my aunt, and my grandparents. It was so nice to have so much of the family together. We even made plans for us to all try to get back together in July to celebrate all the July birthdays - sorta feels like when I was a kid. My birthday is July 17th, my cousin Mike's is July 18th and our Grandpa's is July 20th -- so I have lots of memories of us celebrating our birthdays together as a family.

Wednesday morning Ethan and I hung around my parents' house and then got around and headed to the McDonald's in Nashville, IL to meet Jeanine and Corey. Nashville is just about 30 minutes from my parents' house and about 30 minutes from Jeanine's house so it worked out great. We spent two hours visiting. It was amazing. In those two hours along the emotions ranged from excitement and joy of being with another family who understands this disorder to helplessness, sadness and sorrow because PBDs are nasty and currently is no known cure and treatment is simply symptomatic. Jeanine and I clicked right away - kindred spirits you might say, as we shared about our love of the Lord and our children. Neither of us wanted the visit to end but the children were restless.

We also got another call from the nurse at the geneticist's office on Wednesday. Ethan's ACTH and cortisol results had came back normal! Awesome news. She also shared that the doctor had spoke with Dr. Braverman (PBD specialist from Canada) and they decided that when we get back the VLCFA and plasmalogens results that we would most likely increase the dosage to try to see if we can get better results (unless for some reason when the results come back the levels have went back to normal -- which isn't really likely but we are praying that the levels will improve). I was so excited that in addition to having fantastic results (so far) there was a game plan in place and that even if we didn't get the results that we are hoping for with the Cystadane that we would increase the dosage and keep trying. I felt empowered. I mean my son is the only kid with PBD on Cystadane that we know of in the world. The clinical trial is not yet up and running and not only do I want to see results for Ethan, but if we find out what type of dosage may help Ethan it might give the future clinical trial a jumpstart so that more children can try to see if the medicine will help them. All of this is of course still up in the air as we wait to hear from the lab. The blood had to be shipped to Baltimore, MD and once it got there it will probably take 7 to 10 days to get results.... so until then we try to not go too crazy waiting. This medicine would not be a cure, but if it could improve the quality of live for children with PBD it would be a huge breakthrough!

Ethan and I returned to Mt. Vernon and spent a little more time visiting with my family before heading back to Decatur. Ethan was great on the car ride home.

Thursday morning Ethan had PT and OT. He didn't want to work very hard at the beginning, but he eventually warmed up and even showed off that he can go from the floor to sitting! Thursday evening Ethan and I went to the zoo for about an hour. It was a completely unplanned trip but when we got a reminder that it was going to be a free evening at the zoo I decided we'd go. We ran into a few people that we knew, but it wasn't all that great since Ethan couldn't really see many of the animals - nothing was really up close - and overall just didn't seem to interested. I was glad it was free!

Friday Ethan and I took it easy until it was time for us to go help with the setup at church for Saturday's Pancakes for PBD event. That evening however, Ethan did not want to go to bed. Ethan must have known that we all had to be up early the next morning.

Saturday was Pancakes for PBD and it was amazing. We had such a great turnout - there was no official count taken but we had a steady stream of people the whole morning. You can check out more of the specifics ans well as pictures from the event in my previous post.

Sunday morning we had church. In Sunday school we started a study on the book of Micah and then I helped out in the nursery during the worship service. After lunch with family we came home for a relaxing afternoon. Jeff had to go back to church early for a meeting and then Ethan and I headed back in time for the evening service which was AWANA recognition night. AWANA is a kids program that involves kids ages 3 through sixth grade. When I got into the sanctuary after dropping Ethan off in the nursery the three and four year olds were on the stage. They began by signing a cute little song and then reciting Bible verses, and then each one was individually introduced and received a small award. I wasn't able to stay. I began crying almost immediately when they began to sing and before the sobs were uncontrollable I left. I hadn't had a meltdown like that in a long time.

As I set in the hallway crying one of the amazing women of faith from our church came and sat with me. I was crying because all I could think of when I saw all those little ones up there is that I don't even know if Ethan will live to be 3 or 4, and even if he does he most likely won't be able to sing songs and recite Bible verses while standing at the front of the church. I cried because I want my son to have all of the things that a healthy, typically developing child has and does. I want those things for Ethan and for Jeff and I. I often feel bad for mourning the loss of all those things because Ethan is still with us and many of the amazing people that I have met since Ethan's diagnosis are unable to hold their child because they have already passed away, but I do mourn and grieve, even with Ethan still here with us. Seeing all those little ones up there just made all of those things rush to my mind and heart. All the things that PBD will most likely steal from us. All the jealousy that I have towards my friends and family and even strangers that have healthy typically developing children. As my friend tried to comfort me and assure me that it was okay to be upset I shared with her, as I have with some of my other Christian friends, that I long for Christ to return and take us all home together. Don't get me wrong, I am not a super saint -- just a sinner saved by the grace of the Son of God -- but I do desire heaven especially in the midst of my longing for all of these things here on earth because I know that this is only a temporary home and that my faith in Jesus gives me a hope of something so much better - a place where there is no pain or suffering - eternity in His presence, heaven. But somedays, like yesterday, there are moments that the vision of what is to come is so very hard for me to see and I can't help but think of all the things that PBD has and will take from our son and our family as a whole. Sometimes I just really wish that Jeff, Ethan and I could move to a tropical island that was only inhabitated by other families who understood and of course the best doctors, therapists and teachers. There is no escaping the world around us and anytime we leave the house I am reminded of the fact that my son has PBD and that we live in a broken world filled with sickness, disasters, cruelty, and death. So, if you ever wondered why Ethan and I tend to stay at home by ourselves and forgo the outside world - there it is. At home it is just us and Ethan is Ethan and I don't have to be constantly reminded of all that he "should" be doing.

It has been one really long week. It wasn't even that we were that busy, it was just very emotionally draining - I feel like I've walked up to the mountain top and back down to the valley floor this week. I guess if I'm honest about it I'm sure there are going to be more down days on this journey than I'd like to admit or even try to imagine.

Prayer Requests

  • Continue to pray for Ethan and all children who face devastating diagnosisis and their families.
  • Pray that I will feel the Lord's comfort and strength in the moments and situations that I really struggle.
  • Pray that people will not take their children for granted. 
  • Pray that we will receive good news when his test results come back. Pray that the medicine is having a positive impact and if it does that all children with PBD will be able to have access to it.
  • Pray that Jeff and I will allow the Lord to work in and through us as He trusts us with parenting our son. Pray that we will have His wisdom as we try to be the parents that Ethan deserves as well as being witnesses for the Kingdom.
  • Pray that people with come to know the depth of God's love and trust Him as their Savior and Lord.
  • Pray that people will attempt to see children and adults with special needs as children of God who need love and care just like anyone else and that the world would become more understanding and compassionate. 

May 5, 2012

Pancakes for PBD

We didn't do an official count, but we had a steady stream of family, friends, and community members the whole morning. Between the pancake and sausage sales and donations we were able to raise over $2,000 for the Global Foundation for Peroxisomal Disorders! This money will go to helping our family and other families offset the costs associated with attending the 2012 GFPD Family Support Conference this summer in Orlando, Florida.

The event was a huge success and we will be planning to have the 2nd Annual Pancakes for PBD next May to once again raise funds to help families attend the GFPD conference. We are also planning on doing a chili supper event this fall with all the money being earmarked for PBD research! We'll let everyone know when we settle on a date.

Our family would not have been able to do this without the love, support and generosity of our friends and family. Thank you!