November 20, 2016

Sick. Seizures. Sick of Seizures.

Ethan's continuing to fight the "bug" that has been plaguing him for more than a week now. The cough isn't going away, and I'll be calling the doctor tomorrow.

Yesterday, I had to use Ethan's rescue medication in the first time since May. While the seizures have returned over the last couple of weeks, we weren't seeing them every day and they hadn't started to cluster until yesterday afternoon. I am thankful that the diastat stopped them, but I hate that I had to use it. The diastat really kicked his butt yesterday and he slept for more than 4 hours. It finally got late enough that we had to wake him, which was hard because he was so groggy, but eventually he woke up.

Although we were concerned that Ethan might be up all night, he wasn't and slept really well until around 5:30am, which isn't bad considering that since the time change he has been consistently waking up between 5:00 and 5:30am. Ethan and I stayed home from church this morning and sent Jeff and the girls as our representatives. Ethan's been napping for a while. This bug, whatever it is really needs to go away!

November 14, 2016

Seizures are back. Operation Christmas Child. Sick Kids. Friends Hospitalized.

Ethan's been back on the full dose of Topamax for more than a week. Unfortunately, the seizures are still breaking through. I called the Epileptologist's office on Friday, and he instructed us to increase the Charlotte's Web from 9 drops twice a day to 12 drops twice a day for a week to see if that would help. If they are still breaking through we are then to increase the Charlotte's Web to 15 drops twice a day. Friday evening we began the increased dose. So, we'll know wait and see what happens. Friday we witnessed 4 seizures, Saturday we saw 2, and Sunday we have seen 2. Thankfully, they are all relatively short, just 5 to 10 seconds each, and so far they have not clustered, but it's still awful. I hate seizures.

"Big sister" saw one Sunday, while we were all at the table for lunch, and was surprisingly calm about it. Sometimes it is hard to believe that she has only been in our home since June. She has become a tiny little advocate and ambassador for Ethan. Yesterday, she introduced Ethan to Children's Church when he and his helper went in there so Ethan could listen to the music. In her own way she seems to understand that Ethan is special and different than everyone else, but you can still tell that she wishes he wasn't. Yesterday afternoon she asked me if Ethan would have a job when he grows up. I told her probably not and that he'd probably always live with us. I asked if that would be okay, she said yes. "Little sister" doesn't seem to notice or care. Sometimes she's really gentle with Ethan, other times she is rough -- or otherwise, being a pretty typical sibling! Mostly, she's too busy being jealous anytime she isn't the center of attention. She is 2 after all.

On Saturday we ventured out as a family to shop for our Operation Christmas Child Shoeboxes. We have done these for several years, and have always done one for a child Ethan's age, so this year we put together one for each of the kids. "Little sister" was very upset that she didn't get to keep the dolls, but "big sister" seemed to understand that the items would be going to children somewhere in the world that needed them and that blessing others is one way that we can worship God. 

All three kiddos have been fighting some bug, but it seems to be on it's way out, or at least I hope so. We had a very long family visit to the pediatrician on Thursday afternoon and ruled out ear infections and strep throat. No one ran a temp, but everyone had coughs, sore throats, drainage, and snot. Energy levels seem back to normal so "big sister" is headed to school today, but Ethan's staying at home with me and "little sister." His cough is still pretty nasty and he woke up with diarrhea.

This past week was a tough week for so many of our friends. Several of Ethan's PBD-ZSD buddies have been in the hospital, thankfully at least one if not two of them have made it home already. Our friends who recently returned home from China with their newest addition have also spent almost every day since their return in the hospital with their little one. You can follow their story here. As the fall fades and the winter begins it is likely that both our family and so many others will face more times of illness. The winter months are hard on everyone, especially children and adults with compromised immune systems.

My heart has been heavy all week. We've been battling Ethan's seizures, the kids have been sick, the election didn't turn out how we thought it would, so many of our friends' children are having health issues, and there are some import upcoming dates related to the girls. Prayer is greatly appreciated. 

November 4, 2016

Good News, Bad News

Last Thursday we made the trek to Iowa City to see Ethan's epileptologist. We are very thankful that Dr. Ciliberto is part of Ethan's team. Not only is he a wonderful doctor who seems to truly love working with kids, his undergraduate degree is from the University of Illinois, Jeff's alma mater.

Dr. Ciliberto was excited to see how well Ethan is doing and how alert he is no that he is no longer on phenobarbital. In terms of seizure control it has been a really good summer and fall for Ethan, since we added Charlotte's Web hemp oil to his regimen, got off of Banzel, and got off of phenobarbital. It is like our little boy woke up again. Which of course makes sense since some of most common side effects of phenobarbital are: sleepiness or fatigue, depression, dizziness, upset stomach, memory problems, and trouble paying attention.

Since Ethan has been doing so wonderful, we talked with Dr. Ciliberto about the possibility of weaning Ethan off of Topamax as well to see if there would be even more improvement in Ethan's alertness, activity level and overall well being. Common symptoms of topamax include fatigue or drowsiness, difficulty with concentration, confusion, dizziness, unsteadiness, nervousness, depression, difficulty with memory and loss of appetite. The doctor was completely on board with giving it a try and provided us with a schedule to slowly wean Ethan off of topamax over the next months.

So, last Friday morning we began the wean. Instead of the regular morning dose of 100 mg, Ethan received only 75 mg. Unfortunately, late that afternoon after school, Ethan had a small seizure. His first one in months! Obviously, we were disappointed and discouraged. So, we increased the Charlotte's Web dose, by a drop morning and night, and stopped the wean over the weekend. We started again on Monday morning and sadly Tuesday evening Ethan had two short seizures. I called Dr. Ciliberto's office on Wednesday morning and spoke with the nurse. We decided to keep the wean dose until we heard back from the doctor. Yesterday the nurse called back and the doctor ordered for us to stop the wean, return to the normal dose, and that we could try to restart the weaning process in a month if there were no more seizures after returning to the regular higher dose.

I'm trying to not be to disheartened but it is hard. Perhaps Ethan will always be on multiple antiseizure medications. He in on topamax and keppra as well as Charlotte's Web hemp oil. Maybe I was just getting too caught up in how successful the Charlotte's Web has been and was just hoping and praying that we could wean him off of all the antiseizure medications and keep the seizures in check simply with Charlotte's Web.

It is hard to believe that is was around this time last year that Ethan's seizures came back and started an 8 to 9 month period of constant uncontrollable seizures, multiple hospitalizations, ambulance rides from school, administering emergency medication at the drop of a hat --- even upon our arrival at the Tee It Up for GFPD pre-event reception in May, and fearing that a seizure would be the cause of my son's death.

This morning on the way to Ethan's school on of my "theme songs" was on the radio, Lauren Daigle's "Trust in You." While I will readily admit that my daily walk with the Lord is far from where it should be, and that my witness for Him is something that is probably pretty dismal, at best most days, this song is an anthem that rings true deep in my heart and soul. I'm a mess, but I'm His mess. I fail Him every single day in so many ways, but I do truly trust that God still loves me. He still loves my son even more than I can even imagine and that ultimately I can trust Him.

Another favorite theme song of mine is Casting Crown's "Praise You in This Storm."

Honestly, I don't always do a very good job of praising the Lord through the storms, but I desperately want to. Over the last six plus years the storm of PBD has continued to rage around us. As we have grown close to others in this storm it has become easier to cope but the strength of the storm has in some ways, intensified as we see people who we have come to love and consider family lose a child and know that without a miracle -- spiritual and/or medical in nature, that one day we too will experience that same loss and grief. Ethan is just a few months short of being the same age that one especially dear friend's daughter was when she was healed forever, by the Great Physician. This is never too far from my mind, and I don't know if my friend knows this or not, but seeing her praise Him still, is something that gives me hope. I am thankful to have this friend and so many others in my life who have continued to praise Him in the aftermath of losing a child to this horrible disease. I still may hate PBD-ZSD, but I love my GFPD family.

Prayer Requests
Please pray that:

  • I would seek to praise the Lord in the many storms that we are facing, more than I complain about them.
  • Ethan will remain seizure free and for his overall health. I haven't stopped praying for a miracle that will improve the quality of life of my son, and I hope that you won't either.
  • The scientists, researchers, physicians, studying PBD-ZSD would continue to have the wisdom and the tools needed to make discoveries and breakthroughs that would improve the quality of life for individuals with PBD-ZSD.
  • Family members, friends, and acquaintances who do not yet have a relationship with Christ would have soft hearts and minds and would come to know Jesus as their personal Lord and Savior. 

October 3, 2016

The Life I Never Expected....

When I was pregnant with Ethan there were several other women in our church who were also expecting and/or already parenting young children so it was decided to bring MOPS to our church. After Ethan's birth and diagnosis I only attended a few meetings before I simply couldn't put myself through it anymore. My experience as a new mom of a medically complex, severely disabled child due to a rare genetic disease and the overwhelming grief that accompanies this "journey" made it too difficult to be surrounded by so much "normal."

As time passed I connected with a couple of other moms in my area who had children with special needs. This small group of women became a lifeline and their children became some of Ethan's first "friends." A few of us even participating in a panel discussion for the MOPS group, that I had previously dropped out of, where we shared our stories and answered questions.

Over the last six years I have removed myself from most "normal" parent activities. It is an act of survival. Things like helping out with Vacation Bible School, attending storytime at the library, even trips to the zoo and park, aren't nearly as fun when your child can't participate and/or enjoy it and you know he'd much rather just be at home with his lights and sounds toys. The "normal" stuff is extra hard on my emotions sometimes, it is impossible to not think of all the things that PBD has and continues to steal from Ethan and us as a family. The longing for Ethan to be healed has never gone away. We love him, but we hate PBD.

Fast forward to this summer. We are currently fostering two beautiful little girls. Although each have their own unique set of challenges due to what they have experienced in their young lives they are much more typically developing than Ethan and so we are for the first time doing a lot of the "normal" parenting stuff. I even had the insane idea that in the Fall I should try out the moms group at our church.

I don't know what I was thinking. It was a disaster. I didn't make it through the opening getting to know you activity before I exited stage left in a mess of ugly tears. I was embarrassed, upset, and hurt. A couple of ladies that I didn't know tried to comfort me, but I wasn't ready. I'm not sure I'll ever be ready for being around so much "normal."

A week or two after the "incident" I came across the book, "The Life We Never Expected: Hopeful Reflections on the Challenges of Parenting Children with Special Needs" by Andrew & Rachel Wilson in our church library. I wasn't looking for it, but when I saw it on display it just sort of popped out at me. I'm not completely finished yet, but I have to say that I really like this book and I wish that all the "normal" parents out there would read this book (or something similar) to get a glimpse into the world of parenting a child who is disabled.

The chapter, The Unresolved Why?, is particularly powerful. After providing three different insights that have helped him (Andrew) cope with the unanswered questions he concludes:

"I don't know why God permits so many bad things to happen, but then I wouldn't expect to -- I live in the confident hope that he will one day renew the world, so that even the darkest and most terrible evils of this world will be undone and swallowed up in victory. And I can look at the face of Jesus and remember that, whatever the reason for suffering, it certainly isn't because he doesn't care. Questions still linger, and tears still fall. They probably always will. In the meantime, though, I trust, and hope and wait." (pg. 81).

Additionally, the authors of the book happen to be from England, which adds a bit of a different perspective to the book than those written and likely read by the majority of Evangelical American Christians, because their country is so different than ours when it comes to services for individuals with disabilities and their families as well as public education and healthcare in general.

"We are hugely grateful to live in a nation with a welfare state, one that has poured literally tens of thousands of pounds into the health care, education, and therapy into our children already, and will pour in many times that over the coming years......We count it an enormous blessing to live in a society with welfare and benefits and special schools and blue badges (parking passes for those with mobility challenges) -- especially since we have friends with autistic children in nations that don't have any of these things -- and we think it's just good sense to get whatever help in available. I apply for whatever I might think might help my children thrive, and that means I've filled out more forms than a Soviet bureaucrat. But as soon as I start thinking of those things as rights, which I deserve (rather than, say, thinking of them as gifts, since I could easily have been born in Turkmenistan), I open the door in my soul to bitterness, irritation, and frustration. And that kills thankfulness. And when thankfulness dies, so do I." (pgs. 68, 84)

I have a lot of the bitterness, irritation, and frustration. Afterall, I do live in the state of Illinois. When you live in a state that is as bad as mine when it comes to almost everything and is number 1 in all the wrong things (such as having the most governors sent to prison, having the most unfair public school funding system in the nation,  having the highest property taxes in the country) it can be pretty hard not to be bitter, irritated and frustrated most of the time. According to "The Case for Inclusion 2016," an annual report which ranks how well State Medicaid programs serve Americans with intellectual and developmental disabilities (ID/DD), Illinois ranks 47th out of 51.

Living in Illinois aside, the majority of my bitterness, irritation, and frustration is because of PBD and the impact that it has on our son, our family, and so many others. Andrew Wilson states that, "Finding out your children have special needs is kind of like being given an orange" when everyone else is given chocolate (pg. 33). Andrew spends three pages on this analogy to ends with this:

"So there are times when we're wiping the citric acid out of our eyes and watching our friends enjoying their chocolate, when it feels spectacularly unfair, when we wish we could retreat to a place where everyone had oranges, so we wouldn't have to fight so hard against the temptation to comparison shop and wallow in self-pity. We know that oranges are juicy in their own way. We know that they're good for us and that we'll experience many things that others will miss. But we wish we had chocolate all the same. In our case, that feeling has become less acute and less frequent over time. Our appreciation for the wonders of tangy citrus and vitamin C has increased, and our desire for milk fat and cocoa butter has diminished. But in our story, so far, it hasn't disappeared. I'm not sure that it ever will. And that's okay." (pg. 36)

I admit, I have a lot of moments (or days), even six years into this, like that Friday morning last month when I had to leave the moms' group because I  couldn't seem to be able to wipe my eyes of the citric acid. But, there are other moments (and days) that aren't so bad, where the ever present citrus scent isn't completely overpowering. When I look at my husband being swarmed by Ethan and the girls, everyone with smiles on their faces and laughter filling the air, the amount of love present, so intertwined with grief of many kinds, is somewhat overwhelming. This is definitely not the life I expected, but this is my life and I know that I need keep trusting, hoping, and waiting.

August 20, 2016

Diagnosis Day --- Six Years Later

Six years ago today (August 20, 2010) our lives were forever changed. On that day that our beautiful precious 28 day old son was diagnosed with PBD-ZSD (Peroxisomal Biogenesis Disorder-Zellweger Spectrum Disorder). It was the day that we learned of a disease that we wish to this day that we never had to find out about.

I know I'm not the person --- the individual, the wife, the mother, the daughter, or the friend that I would have been if Ethan had been healthy. Most days I'm pretty sure I'm not a better person but rather a more bitter person because of the pain and suffering that comes along with a diagnosis like PBD-ZSD.

I have read more about pain and suffering, the will of God, God's sovereignty, the brokenness of the world due to sin, and the trials of life than I think I ever would have otherwise. I do not doubt that God is ultimately in control, but I still hate the saying, "everything happens for a reason," and other cliches, many which are not Biblical at all, like "God won't give you more than you can handle." I fully believe there is a difference between being able to have joy and hope and being happy. I still struggle with discontentment and resentment every single day, because I'm a mom who deep in my heart still wants a miracle for my little boy to be "normal" and "healthy" and I know without a shadow of a doubt that the Lord has the power and ability to heal Ethan, however I have to be "okay" with the fact that Ethan's healing may not occur on Earth. Sometimes I still can't help but wonder and question not only "why Ethan," but "why any child or any family" has to endure so much.

Yet, through it all, there are things I'm thankful for --- I have a husband who has stood by us when so many others don't. I know that we are blessed to have him in our lives. I know that Ethan is loved by his family and many others. There are people who have chosen to love our family and "do live with us" and actively try to "understand" the messiness and hardships that come with this life changing diagnosis. I have met some of the most amazing, bravest, strongest people in this world, although honestly I wish we had never had a reason to meet. I have the honor of serving other families like ours through the Global Foundation for Peroxisomal Disorders and because of the GFPD we have met many of the world's top PBD-ZSD specialists, who know Ethan by name! Over the last six years we have been very fortunate to have amazing doctors, therapists, nurses, teachers, and others who have helped us help Ethan. I have not let PBD-ZSD rob me of my faith, although there are times even now of great struggle and when God feels so far away. I believe in all my heart that God has not abandoned us and that He loves Ethan even more than I can imagine. While I may always have questions about "why" this side of Heaven, I have faith that someday my son will be healed forever and that because of what Jesus did on the cross that I can find peace, rest, and assurance in His promises.

Today, six years after receiving the most devastating news in my life and what I'm pretty sure will be the worst day of my life except once that has yet to occur I pray:

  • I pray for the day in which a family who receives a PBD-ZSD diagnosis is told that there are effective treatment options and/or a cure.
  • I pray that life changing treatment options will be discovered in time to help Ethan.
  • I pray for the doctors and scientists who have dedicated themselves to understanding this disease and are searching for ways to improve the quality of life for individuals with PBD-ZSD.
  • I pray that families impacted by PBD-ZSD who have yet to connect with other parents who "get it" will find the GFPD.
  • I pray for the leadership of the GFPD and every family that is part of the GFPD.
  • I pray for the amazing therapists and teachers who dedicated themselves to working with and helping kids like Ethan.
  • I pray for Jeff and I to have the strength/energy, wisdom, and peace needed to continue being the parents we need to be for Ethan.
  • I pray for Ethan, his health and his development. I pray that he would be happy and most of all know that he is loved.
  • I pray for the two little girls who currently share our home and have already stolen a piece of our hearts, whose stories are yet to unfold. Their presence in our family is obviously bittersweet in so many ways as it is undeniably intertwined with grief (both theirs and ours) but we are so happy that they are here.
  • I pray for the church as a whole to do a better job at recognizing the needs of families who foster and/or adopt and those who are impacted by disability and be the hands and feet of Jesus to these families. 
  • I pray that if there is anyone who reads this that does not yet have a personal relationship with Jesus, that they would come to know Him and the type of peace and hope that only He can provide. 

August 2, 2016

Summer Update

June and July have been very busy for us and full of changes for our family.

The first weekend of June I flew to Baltimore, MD for a GFPD Board of Directors meeting. While there I was also able to attend the meeting of the GFPD Scientific Advisory Board and the Ilan-a-thon. I left that weekend very proud of how much the GFPD has accomplished in less than six years and excited to see what will happen next. Please read "Update from the Annual GFPD Scientific Advisory Meeting" and "More than a Race, Ilan-a-thon is a Celebration," for more details.

During my trip to Baltimore , which came less than 2 weeks after Ethan had his tonsils and adenoids removed, we began to make a number of changes to Ethan's anti-seizure medications. Under the supervision of Ethan's epileptologist we began to wean him off of Banzel and made plans to try Charlotte's Web hemp oil. Ethan's epileptologist runs a clinical trial for Epidiolex, which is a pharmaceutical cannabinoid, but his trial site, like most around the country are full and not accepting new patients at this time. Thankfully, he was on board with us giving Charlotte's Web (CW) a try and provided us with dosing suggestions.

I am happy to report that Ethan's last seizure, that we are aware of, was on June 6th. The combination of addressing his sleep apnea by removing his tonsils and adenoids and the medication changes seem to be working. Plus, after we got Ethan off of Banzel his smile and personality began to return, as did some of his balance. Ethan has been doing so well that his epileptologist has allowed us to begin weaning him off of another one of the anti-seizure medications, Phenobarbital, and we are about half way into the 7 to 8 week process. Reducing the amount of Phenobarbital has made a world of difference in Ethan's quality of live, in my opinion. He is so much happier and his mobility has greatly increased -- he's walking more everyday it seems. Yes, it is just short distances, but we are so thankful that the "fog" has seemed to be lifted and that as of today we have not seen any seizure activity. Ethan's epileptologist is wonderful and if the seizures return then we are to call and he is going to suggest increasing the Charlotte's Web and seeing if that will do the trick without having to go back up on Phenobarbital.

Since Ethan had speech therapy, physical therapy, and occupational therapy services through the school district during June and early July in addition to his regular outpatient therapies at Easter Seals, many of the therapists that he works with have seen the improvement in Ethan's alertness, willingness to participate in therapy, his mobility, and his mood. The effects of PBD-ZSD on our little boy are still very clear, and he still tires easily and therefore typically takes a good nap everyday, but overall we are just so happy to have Ethan "back" to about where he was at last Fall.

In addition to getting seizures under control, we celebrated Ethan's 6th birthday last month. We actually celebrated it three times: once with my extended family in Southern Illinois the weekend before his birthday; we had our parents, 3 great grandparents, an aunt, and 2 cousins all over at our house on Ethan's actual birthday; and the next day we had an open house style party at our church for our friends here in the area. Ethan turning 6 was both wonderful and heartbreaking for me, but nevertheless we tried to look on the bright side of things and use it as an opportunity to not only celebrate our son but to give back to the GFPD, who has given us so much.

Here is my Facebook post on the day of Ethan's birthday:

Today is Ethan's 6th birthday!
Last night I went to the store to get things for our parties/celebrations this weekend. I was doing "okay" until I started looking for a card, picking out "birthday plates"and looking for a gift.

Ethan doesn't understand It's his birthday, doesn't know what a card is and/or have a favorite color/theme that he has begged us to incorporate into his party. He doesn't know what cake is and probably won't even taste a bite of ice cream, when we offer it to him. I have to go to the "baby toy" aisle for a gift for my 6 year old.

When I got home last night I just lost it, I mean ugly uncontrollable cry lost it. I was thankful that a dear friend was here, she had dropped something off, and she let me fall apart.

I hate this disease so much. I know in that I'm fortunate that I can still hold my boy and that at moment his health is "stable," considering his diagnosis. Yet, the desire to have my little boy be "healed" and "normal" doesn't ever go away. It still hurts and sometimes the feelings are so raw, even after almost 6 years. I want effective, life-changing treatment options to be discovered and made available, yet the reality is that it may not happen in time to make a difference for Ethan and it won't bring back all the children who have already passed.

If gene therapy can help Hannah and others, them maybe, someday it could make a difference for children with PBD-ZSD. Maybe a more "traditional" treatment like a bone marrow transplant or even a medication/pharmaceutical drug will make a difference in the quality of lives of those with PBD-ZSD, but there is still so much to be done to find out. The GFPD is determined to help support the researchers who are dedicated to finding ways to improve the lives of individuals with PBD-ZSD. This is one of the reasons why we are so passionate about raising awareness and funds for research. You can learn more at find ways to get involved in helping children and families impacted by PBD-ZSD at

P.S. We feel very blessed that we have surpassed our original $600 goal for the GFPD in honor of Ethan's birthday. If you haven't yet, there is still time to donate. Thank you!

I am thrilled to report that due to the generosity of family, friends, and acquaintances we know that almost $1,500 was donated to the GFPD in honor of Ethan's birthday! We are so thankful for all who gave and for the continued support and prayers. The GFPD is so important to our family and families around the world who are impacted by a PBD-ZSD diagnosis.

Perhaps the biggest change for us is that this summer we have become a family of five! We have been licensed foster parents for more than a year, and in May we agreed to meet two little girls to see if we might want to become their foster parents and their adoptive parents if that becomes a possibility someday. So, if you happen to see us out and about or hear me refer to our "children," or see me ask for parenting advice on Facebook, please know that we are still figuring things out and adapting to becoming a family of five. We have fallen hard for the two precious little girls who are in our home. There are so many blessings, challenges and it can be so bittersweet for so many reasons to have them as a part of our family, but we are so glad that they are here and that we have opened our heart and home to these little ones. We have no way of knowing how long the girls will be with us and what ultimately will happen, but as Jeff likes to say, "They will be with us until they aren't."

For obvious reasons we are not at liberty to share much at all, but we do ask for your prayers for us and for all the children, biological families, foster families, and professionals who are in the trenches of foster care. Specifically pray for the healing of bodies, hearts, and minds and for wisdom for all involved. Please pray for our family specifically as we travel another challenging "parenting" road and learn to navigate in an entirely different "world" than we have been in with Ethan for the last six years. Please pray that we will be able to be the parents that all three of our children need us to be. For more practical ideas about how you can pray and support those involved in foster care ministries check out The Forgotten Initiative and All In Family Ministries. We are very thankful that our church has an active Foster/Adoption ministry and that we are able to connect with other families who have been and/or are going through some of the same things.

So many of our pictures from the summer include the girls, which sadly I can not share, but Ethan has also been a bit more photogenic lately. Here's a few to leave you with:

Ethan actually "noticed" the fireworks this year!

We are so happy that this guy's personality is coming back to us!

Ethan's new favorite game -- ON/OFF!

"It's my birthday and I'll sleep if I want too!"

Love this smile!

May 31, 2016

Ethan's tonsils and adenoids are gone!

The thought that Ethan might sleep apnea was first brought up to us by a neurologist in December 2015 and was verified in February 2016 through a sleep study. On Tuesday, May 24th, Ethan finally had his tonsils and adenoids removed. The hope is that their removal will help decrease the sleep apnea which in turn should reduce the seizures, since almost all of Ethan's seizures are breaking through while he is sleeping.   

On Tuesday morning we arrived at the hospital at about 5:15 am for the surgery that was scheduled for 8:00 am. We were taken up to the pediatric floor and from there we were taken down to the operating room. The surgery went smoothly and afterwards we were able to see him in recovery. Ethan was in recovery much longer than what is usual simply because there were no beds available for him on the Pediatrics Intensive Care Unit / Pediatrics Intermediate Care floor. 

It was after noon before we were taken to a room and things seemed to be going okay for several hours. Jeff's parents came to visit and so did two friends from church. Unfortunately a little after 3pm Ethan woke up seizing. It was just one short 30 second seizure, and the nurse was actually in the room to see it. I told her that I was worried because his seizures tend to cluster, but there was only the one seizure and then he settled back to sleep.

About 20 minutes later he had another seizure and they began to cluster one on top of the other. His oxygen level dropped and he began to turn blue. Alarms were going off and the room filled with nurses and doctors. Ethan's oxygen level dropped into the 40s --- it should be between 98 and 100 at all time. He was struggling to breath and they "bagged" him (see picture) to help force air into him and to help get him breathing again. They also administered medication through his IV that works even quicker than the rectal diastat that we give him here at home to "rescue" him. 

I was a complete wreck! Thankfully, Jeff was my rock and he allowed me to fall apart. I was truly afraid that this was it. His oxygen levels were slow to rise, they kept using the bag to force him to breath and then once he was breathing they started giving him oxygen through his nose (see picture). He was so out of it that it took him a few minutes before he realized that it was bothering him. By then his oxygen levels were up and they were able to wean him off and back to room air fairly quickly. I just couldn't believe what was happening to my little boy. 

The doctors believe that Ethan was having trouble breathing and therefore had the seizure because of post surgical swelling, which can last up to two weeks! Ethan was given IV steroids before the surgery, but they gave him a dose of a different stronger steroid to reduce the swelling. 

After Ethan was off the oxygen and stabilized the room began clearing out. The whole ordeal lasted less than 20 minutes, but it seemed like an eternity. I'm not sure that I've ever felt so scared, except perhaps on the day Ethan was diagnosed with PBD-ZSD. I know that ultimately Ethan, like all of us, will die, but I'm not ready. 

The rest of the afternoon and evening were pretty uneventful and Ethan rested comfortably. The youth pastor from our church, who we became friends with shortly after we moved here, came by to visit and pray with us. Eventually, Jeff's parents took him back to our house, so that he could get his car. Later he brought back dinner for me and once Ethan was asleep for the night he headed back home to sleep. The night went by pretty smoothly and I was able to get a little bit of rest. Sleeping at the hospital isn't fun for anyone. 

Jeff came back early the next morning, followed later by his parents. One of the doctors came by and shared the good news that he thought that Ethan was doing well enough to go home later in the day. As anyone knows who has waited to be discharged from the hospital, it isn't a quick process. After rounds were completed and after calls to the pharmacy so we could get scripts for additional pain medication and steroids we headed home.

 Ethan rested the majority of the day, and I decided to sleep in his room with him, which helped but my mind at ease. I also set an alarm so that I would wake up to give him another dose of pain medication at 4:00am. The ENT (surgeon) warned us, when he spoke to us after the surgery, that it was important to keep on an every 4 to 5 hour pain medication schedule for a couple of days if needed. He also said that days 5-10 after surgery can sometimes be worse than the first couple of days and that "normal" recovery time can be anywhere from a week to two weeks. 

Since we know that there is very little about Ethan that is "normal" we aren't going to be surprised if it takes him a lot longer to recovery. Tomorrow will be one week since surgery. He continues to be very lethargic and not his typical happy self. There are moments that we get a little glimmer of his personality, which is nice. We are hoping and praying that once he is fully recovered from the surgery that his sleep apnea will be resolved and therefore he will be less likely to have seizures while he is sleeping. 

We are also hoping and praying that then we will be able to work with his Epileptologist to see if we can reduce and/or change any of his anti-seizure medications. While, minus the episode at the hospital, he hasn't had any visible seizures since the latest increase in the Banzel, all of the medications that he is on have really affected his energy level, his stability/mobility, mood, and his overall personality. He's is currently on the highest doses possible for his size of four different anti-seizure medications (Banzel, Topamax, Keppra and Phenobarbital) all of which are taking a toll on our little man and haven't really done a very good job at keeping him seizure free because almost every week he has a really bad seizure episode that requires the use of his rescue medication Diazepam/Diastat. His "sparkle" is simply not there like it was before the seizures came back this fall and we have had to add to and increase his anti-seizure medications. Here's a look at the common side effects of the anti-seizure medications that Ethan takes:

Common side effects of Banzel
headache, dizziness, fatigue, nausea/vomiting, sleepiness, double vision, trouble with balance

Common side effects of Topamax
fatigue or drowsiness, difficulty with concentration, confusion, dizziness, unsteadiness, a feeling of pins and needles in the tips of the fingers and toes, nervousness, loss of appetite, depression, difficulty with memory

Common side effects of Keppra
sleepiness, loss of strength and energy, dizziness, anxiety, nervousness, irritability, depression, other mood changes.

Common side effects of Phenobarbital
sleepiness/fatigue, depression, trouble paying attention, dizziness, memory problems, upset stomach, anemia, rash, fever, low calcium levels/bone loss.

Common side effects of Diazepam/Diastat
poor coordination, behavior changes, unsteadiness, sleepiness, fatigue, drowsiness, blurred or double-vision, dizziness.

    As you might be able to imagine that when you combine all of these medications together, the side effects can be magnified. We absolutely want to do all that we can to reduce the number of seizures that Ethan has, however we also do not want to continue to have him be so drugged out that his quality of life is impacted. Everyone who knows Ethan has seen how these medications have changed our little boy, and we have to try to do something to get our boy back. We would love to be able to try the medication Epidiolex with Ethan. Epidiolex is a liquid formulation of pure plant-derived Cannabidiol (CBD), but since it has not yet been granted full FDA approval at this time is only available to a limited number of patients participating in clinical trials. So, we are going to be asking our Epileptologist his thoughts on the hemp oil extract known as Charlotte's Web, which contains naturally high levels of non-psychoactive cannabinoids. 

Please pray for us as Ethan continues to recovery from surgery and we seek to work with his medical team to try to find treatment options that reduce his seizures with minimal side effects. We really miss the little boy that Ethan was back in September and October. It has been a long fall, winter, and spring battling seizures and sleep apnea. We hope and pray that this summer will be different and that we could get our little boy back. 

May 19, 2016

GFPD is Family

We may hate PBD-ZSD but we love our GFPD family. The Global Foundation for Peroxisomal Disorders has truly become our second family. Check out this short video to meet some of the other families who, like us, have had their lives forever changed because of PBD-ZSD. 

As of today, the GFPD only knows of 89 children in the U.S. who are living with PBD-ZSD. It is estimated that approximately 80 children are born with PBD-ZSD each year in the U.S. and approximately half of these children will not survive past their first birthday.

We are passionate about raising awareness and funds for research because we pray that a breakthrough will be discovered in Ethan's lifetime, but even if that doesn't happen we will keep fighting because this cause is so much bigger than just our family. In the next couple of weeks we will be sharing details about how you can get involved in our bowling and silent auction fundraising event that will be in September. Even if you aren't able to attend there will be ways for you to help. More information coming soon.

April 24, 2016

The Coexistence of Grief and Hope

This spring has been rough, especially when it comes to Ethan's seizures, but I'll be writing more about that in another post. On Friday I had the rare opportunity to spend several hours with another PBD-ZSD mom and I am so thankful for the time we had together, but my heart was also heavy because there are so many other women who I wish could have been with us. Tonight our family enjoyed the beautiful weather at a local park with friends from our small group. One particular conversation from Friday and the events of this evening have me reflecting on perpetual grief and the fact that not a day goes by that I am not mourning in one way or another.

I know that I'm not the only one who has these feelings. Numerous blogs and books have been written about the mourning and grief that accompanies having a child with special needs and/or medical complexities; "How to Cope with Recurring Grief," "The Unique Grief of Special Needs Parents," and "The Perpetual State of Losing," are just a few.

On Friday as I walked and talked and laughed and cried with another mom who "gets it," one of the things that we discussed was the use of the word "terminal" vs "life-limiting" when we talk about PBD-ZSD and how these words that in many ways mean the same thing, can carry very different connotations. Here are just a few possible definitions of these words that I found online.

Terminal illness:
  • Leading ultimately to death; fatal; approaching or close to death; being in the final stages of a fatal disease; causing death eventually; leading finally to death; having an illness that cannot be cured and that will soon lead to death [Merriam Webster] 
  • An incurable and irreversible condition caused by injury, disease, or illness that would cause death within a reasonable period of time in accordance with accepted medical standards, and where the application of life-sustaining treatment would serve only to prolong the process of dying. [Duhaime's Law Dictionary]
  • Defined in UK Social Security legislation as: "a progressive disease where death as a consequence of that disease can reasonably be expected within 6 months." [The Free Dictionary]

Life- Limiting Condition:

  • Conditions for which there is currently no cure and the condition is likely to lead to a child dying prematurely; Any chronic condition (longer than three months) developed in childhood that without major intervention is likely to result in premature death; Recognition and diagnosis of the condition must occur before the age of 16 years. There is no cure for the condition and a likelihood that the child will die prematurely as a young person (25 years or under). [Centre for Palliative Care Research & Education - Children with a Life Limiting Illness]
  • Diseases with no reasonable hope of cure that will ultimately be fatal. [Rising National Prevalence of Life-Limiting Conditions in Children in England]

My friend's son is 2 years old. Ethan is 5 years old. My friend frequently uses the term "terminal" when explaining her son's illness to others. While I still use "terminal" at times, more recently, I more frequently describe Ethan's illness as "life limiting with no cure." Why have I changed how I describe Ethan's condition? To be honest, I think it has a lot to do with grief and mourning. Both mine and the general understanding of if within today's society. When most people hear the word terminal they think that there must be an "expiration date" or a given life expectancy. We have been in mourning since we first learned about PBD-ZSD on August 20, 2010 when we held our beautiful 28 day old baby boy and the world collapsed around us. We were told the truth about the disease (50% chance of dying in the first year, etc.) and began to prepare for the worst but hope for the best. Fast forward more than 5 years later, Ethan is still alive. He is severely disabled and although we don't think he is likely to die tomorrow, he still hasn't "beat" PBD-ZSD. He still has a "terminal" disease and his health could deteriorate at any given time without much warning or he could continue to trudge along day by day fighting PBD-ZSD with all his might yet not making a lot of progress. The honest truth is that God is the only one who knows my son's future and while we have looked, we have yet to discover an expiration date stamped anywhere on his little body.

While there is some variation in the definitions of "terminal" and "life-limiting," depending on the source, the overlap is undeniable. Let me be clear --- PBD-ZSD is a terminal life-limiting condition with no known cure. However, PBD-ZSD is a disease that has an extremely wide range of symptoms, so wide in fact that prior to recent medical advancements/discoveries the spectrum was actually thought to be four separate diseases (ZS, NALD, IRD, Heimler Syndrome). The sad reality is that approximately half of all children born with PBD-ZSD have the most severe presentation of the disease and typically die before their first birthday and the majority of children with PBD-ZSD do not survive into their teens. Although there are individuals with PBD-ZSD living into their twenties and thirties with varying degrees of disability, this is not the norm. This is a nasty disease and while there are amazing physicians and scientists working on discovering ways to improve the quality of life for individuals with PBD-ZSD, there is still a lot that is unknown. [For more information about PBD-ZSD please visit the Global Foundation for Peroxisomal Disorders (GFPD).]

Tonight, we met our friends at the park. All of our friends also have children. While a few of the children are older than Ethan, the majority of them are significantly younger than Ethan, but because they are "healthy typically developing" children they live, play, operate in a completely different world and reality than Ethan. I'll just be honest --- it is hard. Silent tears were shed, multiple times, as I watched my friends' children play and the sorrow over what PBD-ZSD has stolen from Ethan and us as a family simply overwhelmed me. I'm not mad that my friends' have healthy kids or that they can run around and play. I grief and mourn because Ethan can't. I grief and mourn everyday for all that Ethan and us as parents are missing out on because of this horrible disease that I hate beyond words. On most days the perpetual grief doesn't bring me to tears, but there are many moments that still, more than 5 years into this, hit me hard. Tonight at the park, was one of those times. 

Then, we came home and after Ethan was fed and in bed I sat down at the computer to order new shoes for Ethan, since his new AFOs (braces) won't fit in his current shoes, as well as some of his medications. While I was sitting here my mind couldn't stop thinking about another dear friend who will likely struggle to sleep tonight, as tomorrow morning marks one year since her little girl left her and her husband's arms for the arms of Jesus. The grief that we feel and experience isn't the same as what my friend knows, yet without a miracle, it is almost certain that one day we will know that type of grief all too well. The knowing and the not knowing that comes with this type of diagnosis, at least for me, is another contributing factor in the perpetual grief that is my reality. Another thing that makes the grief associated with our journey with PBD-ZSD, thus far, unlike a grief that I had ever experienced before is that we are active members in a community that mourns together. The GFPD has truly become a second family to us and when they hurt, we hurt. Even after over 5 years, each new loss within our GFPD family stings and reminds us how desperately we need effective treatments and ultimately a cure for this terrible disease. While I may feel more pain because I am part of the GFPD, I can't imagine doing this without them. I am so thankful to know and call these people not only my friends but also my family. I'd like to ask you to please pray for my dear friends and for all families who have experienced the death of a child. 

While PBD-ZSD has thrown me into a world of perpetual grief, because of my faith in Christ and what He did, I can still have hope and I can still find joy, because I know that this present life isn't the end.  

"Brothers and sisters, we do not want you to be uninformed about those who sleep in death, so that you do not grieve like the rest of mankind, who have no hope. For we believe that Jesus died and rose again, and so we believe that God will bring with Jesus those who have fallen asleep in him. According to the Lord's world, we tell you that we who are still alive, who are left until the coming of the Lord, will certainly not precede those who have fallen asleep. For the Lord himself will come down from heaven, with a loud command, with the voice of the archangel and with the trumpet call of God, and the dead in Christ will rise first. After that, we who are still alive and are left will be caught up together with them in the clouds to meet the Lord in the air. And so we will be with the Lord forever. Therefore encourage one another with these words. ~ 1 Thessalonians 4:13-18 (ESV)

I don't pretend to know the answers to all the questions that I have, especially those dealing with why pain and suffering are allowed to occur and seem to be so abundant in this world and what Heaven will really be like. I freely admit there is so much that I don't understand. Yet, I haven't given up my faith in the one who loved me so much that he would die for me.  

"But God shows his love for us in that while we were still sinners, Christ died for us."
 ~ Romans 5:8 (ESV)

"For God so loved the world, that he gave his only Son, that whoever believes in him should not perish but have eternal life." 
~ John 3:16 (ESV)

"Now faith is the assurance of things hoped for, the conviction of things not seen."
~ Hebrews 11:1 (ESV)

Shortly after Ethan's diagnosis a friend sent me "Holding onto Hope" and "The One Year Book of Hope," written by Nancy Guthrie. Nancy and her husband had two children die from PBD-ZSD. More recently I began to explore books like "Held: Learning to Live in God's Grip" and "Get Your Joy Back" alongside other Christian women who have children with special needs. The next book we are going to be reading, beginning in June, is "Anxious: Choosing Faith in a World of Worry."

I also listen to a lot of Christian music. I find myself singing along with songs like "Where I Belong," by Building 429, "Bigger Than the Odds," by Matt Vollmar, "Lift Me Up" by The Afters, "Before the Morning," by Josh Wilson and so many others, frequently with tears streaming down my face, as I reflect on how fleeting this life is and that eternity awaits us. 

Tonight I came across "30 Prayers for Special-Needs Parents," and my plan is to print them out this week so that I can focus on the scriptures and prayers in this resource over the next month.

I also draw strength from "reminders" like these from Proverbs 31 Ministries:

I want to live a life that reflects this. I hope you do too. 

Prayer Request
Please pray for all who are hurting and need to feel and experience the love, comfort, strength, peace, hope, and joy that only God can provide. Please pray for guidance about how God might use you, as the "hands and feet of Jesus" to minister to those around you who are hurting. 

March 3, 2016

Epileptologist Visit - February 29, 2016

Monday was Rare Disease Day. We celebrated Rare Disease Day with our first visit to a pediatric epileptologist (epilepsy specialist) at the University of Iowa, Dr. Ciliberto.

Jeff and I liked the doctor and his team. He spent a lot of time with us and although he didn't have a magic solution, we were glad that we at least have a plan. Ethan is currently taking Keppra, Phenobarbital, and Topamax for his seizures and we have rectal Diazepam that we use as a rescue medication when needed. February was a difficult month and we have needed to use the Diazepam on multiple occasions. Due to a cancellation, Ethan was able to have his sleep study last week, which confirmed that he has mild sleep apnea, which could be contributing to the increase of seizures, especially while he is sleeping. While we don't enjoy the risks associated with surgery, we are working towards being able to schedule the removal of Ethan's tonsils and adenoids. The hope is that their removal may decrease the level of sleep apnea. Unfortunately, we will not be able to get in to see the ENT/surgeon until the end of April. Dr. Ciliberto is not a sleep specialist, but he agrees that addressing the sleep apnea may be beneficial, although he has warned us that that alone may not control the seizures. So, we are realistic, but also hopeful that we will see some improvement after the surgery. I asked for us to be put on the cancellation list, so hopefully we can get in to see the ENT, sooner than later, and get the surgery scheduled.

In the meantime, Dr. Ciliberto is going to tweak Ethan's medications. Over the next couple of weeks we are going to increase Ethan's dose of Topamax to see if that will help control the seizures. If it doesn't help, then we will take him off of that particular medication and try something else in addition to the Keppra and Phenobarbital. The medications that we discussed as possibilities of what to try next were: Ezogabine, Perampanel, Lamictal, and Rufinamide. The implantation of a Vagus Nerve Stimulation (VNS) device was also discussed as a possibility if the seizures remained uncontrollable after trying additional medication combinations and the removal of Ethan's tonsils and adenoids. We also discussed at length how often we have had to use the rectal Diazepam, its effectiveness, and risks associated with frequent use. For at home, at least, we are adjusting our plan for using the Diazepam to break the seizures. If Ethan is having a cluster of seizures, where each seizure is less than 30 seconds, with a short break and then another separate seizure starts, we are now going to wait longer to use the Diazepam as long as he doesn't seem to be in distress. If there is one constant seizure that lasts for 5 minutes, then we will give the Diazepam to break it, however, if it is a cluster we are to watch him closely for up to 20 minutes before administering the rescue medication as long as we do not feel like he is having problems breathing, etc. Dr. Ciliberto has recommended this because it is his experience that some individuals with cluster seizures have a normal length of cluster --- 5 minutes, 10, 15, even 30 minutes, and their body stops on its own. Currently, we had been using the Diazepam at 5 minutes and then it would take about 5 to 7 minutes for the seizures to stop after the medication was administered, and then Ethan would fall asleep for an hour or more and is completely drained even upon waking.

Today, was the first day that I had to follow this new protocol. Ethan has had a cough and some boogies so he did not go to school yesterday or today and has been pretty tired for the last two days. Today he woke up from a late morning nap seizing. So, I timed it and took care of him --- holding him, laying next to him, stroking his back and his head, talking to him, praying, etc. for almost 15 minutes until the cluster of seizures stopped on their own. It was hard to wait that long without intervening, but I did. After the cluster stopped it took a little while but Ethan seemed to recovery pretty well and was back to playing within an hour. He's not his 100% right now due to whatever cold/cough/bug he is fighting, but overall he was doing much better, energy level speaking, than if I would have administered the Diazepam.

Prayer Requests
  • Decrease of seizures -- finding the right medication combination, addressing the sleep apnea, etc.
  • Surgical removal of tonsils and adenoids, if/when scheduled -- wisdom for the doctors and a safe surgery and quick recovery for Ethan, and that is would eliminate the sleep apnea.
  • Strength, wisdom, peace for Jeff and I as we are going to try to wait longer to administer the rescue medication, when it is safe to do so.
  • Discovery/development of effective treatment options and ultimately a cure for PBD-ZSD. A miracle.
  • The Global Foundation for Peroxisomal Disorders
  • All of the amazing professionals who are part of Ethan's team -- doctors, therapists, teachers, his "buddies" at church who care for him so that we can attend Sunday School and the Worship service, etc.
  • Jeff - would continue to do well at work and that he would be able to have peace about being at work and doing his job in the midst of Ethan's increased health challenges. That he would be able to get the sleep/rest he needs each night so that he would be refreshed and not so tired all the time.
  • Pamela - be able to do a better job keeping up with the house, since I quickly dismiss this when Ethan isn't feeling well and he is home sick and not at school. Make wiser and healthier food choices and be motivated to exercise on a regular basis once again. Over the last year I have become increasingly unhealthy and have lost nearly all the progress that I had worked so hard at for over two years (2013-2014).
  • Jeff & Pamela - our personal relationships with Christ, each other, Ethan, our families, fellow believers, and friends. All of the uncertainties surrounding Ethan's health and life are extremely stressful and impact every aspect of our lives.
  • Salvation of friends and family who do not know the Lord.

February 21, 2016

Whirlwind Week and a Half

The last week and a half have been stressful for us, filled with seizures, sickness, and doctor appointments.

Wednesday, February 10th -- Ethan woke up crying and seizing. Jeff had not yet left for work so he helped me administer Ethan's rescue medication when the seizure clusters continued for more than five minutes. The diazepam worked, but it took about 8 minutes for the seizures to stop and for Ethan to fall asleep (a side effect of the medication). After we were sure that Ethan was safe Jeff went ahead and went to work. Ethan slept for a little bit and then was up and about playing, but was still pretty tired and not seeming to be 100% back to his normal. I called the pediatrician, to let her know that we had to use the diazepam and to see if we could bring Ethan in to make sure nothing else was going on. There weren't any appointments available for that day with our pediatrician, and while we could have seen another doctor in the practice, I decided it would be better to just wait until Thursday and see our pediatrician, who knows Ethan. For the remainder of the day Ethan was pretty snugly, which let me know he wasn't feeling great. I even participated in part of the GFPD Board of Directors phone call meeting while he slept on me. He didn't have a fever or any other symptoms that indicated anything else was going on, so I just contributed his tiredness to the bad seizure cluster.

Thursday, February 11th -- Ethan seemed fine when he woke up so I took him to school and then picked him up at 1:00pm so that I could take him to the pediatrician. His teacher said he had had a good morning, so I was sure that he was okay, but I knew it was still important to follow up with the pediatrician since we had given him the diazepam the day before. Unfortunately, my mom instincts were wrong. Ethan tested positive for strep throat! I felt horrible. He hadn't had any visible/noticeable symptoms and since he isn't able to tell me much, I had no idea. Major mom fail! So, the pediatrician prescribed five days of antibiotics and since Ethan had Monday off for President's Day, we were sure he'd be good to go back to school on Tuesday. Ethan loves school, a lot more than being home, so we try to not have him miss unless it is really necessary. 

Friday, February 12th [Day 2 of antibiotics] -- Ethan stayed home from school. He seemed pretty tired but otherwise okay. Diarrhea, likely due to the antibiotics started.

Saturday, February 13th [Day 3 of antibiotics] --  Haircut!

The morning, went well, especially his haircut, but sadly he continued to have diarrhea. 

Sunday, February 14th [Day 4 of antibiotics] -- Due to the diarrhea we decided that it was better to stay home from church. Later in the afternoon it was clear that Ethan wasn't feeling great. 

Monday, February 15th [Day 5 of antibiotics] -- There was no school because it was President's Day, which is why I had previously scheduled his six month GI appointment for that day. When we saw the GI in the afternoon I spoke with him about the diarrhea, which he also believed was likely due to the antibiotics, and the random choking/retching sounds that Ethan makes sometimes. He prescribed a medication that we hope might lessen the retching. The doctor is also going to see if our insurance will cover a medication that some children with PBD-ZSD take that has shown to improve their liver function.

Tuesday, February 16th -- Ethan was still having diarrhea so we kept him home from school. He had two small seizures during his nap -- each time they woke him and then he was able to go back to sleep.

Wednesday, February 17th -- Due to diarrhea overnight Ethan required a bath when he woke up. Jeff took the day off to go with us to previously scheduled ENT, Neurology and Genetics appointments in Champaign. We saw the ENT first and discussed the possibility of Ethan having sleep apnea that could be making his seizures worse. Ethan's tonsils did not appear to be extremely large, and so the ENT wants to wait until we get results from the sleep study (still more than a month away) before we would consider surgery, but agrees that if there is sleep apnea that removing the tonsils and adenoids might be beneficial. Before we left the ENT's office for lunch we decided to give Ethan his tube feeding, and unfortunately Ethan had another bout of diarrhea that needed to be cleaned up and required a change of clothes. 

We left the hospital and headed to Jimmy Johns for lunch, where we went through the drive thru and then drove to the park to sit and eat in the car. While Jeff and I were eating our lunch Ethan played for a while with his iPad, and then napped a little, and unfortunately had another diarrhea diaper. We got him cleaned up and I called our pediatrician's office to let them know that Ethan was still having diarrhea even though he'd been off of the antibiotics for two days. I left a message with our nurse care coordinator and then we headed back to the hospital for our next appointments.

We spent about an hour with the geneticist. It was our yearly check in. We went over some of Ethan's latest blood test results, but unfortunately his VLCFA tests were not back yet. We spoke of what we had learned at the GFPD conference back in July and the geneticist was in agreement that we are doing what we need to do for Ethan. Ethan was not happy at being there and he didn't want any of his toys, but luckily the nurses found a light up top that he liked. 

After we finished with the geneticist we went back to the waiting room to wait for our neurology appointment. I checked my phone and saw that I had missed a call from the pediatrician's office so I called back and they were able to schedule us to be seen by in the pediatrics after hours clinic at 7:30pm. Ethan just wanted to leave, so Jeff and Ethan wondered around for a bit before it was time for us to see the neurologist.

We filled the neurologist in with all that had happened since we had seen her in November. It is very difficult to get in to see her and all of our hospitalizations and recent EEGs have been here, almost 2 hours away from her. Although we have tried to keep her updated and the local doctors have reached out to her a few times while we were inpatient, there has been problems with keeping everyone in the loop and on the same page with medications and dosing, as each time we see a different doctor inpatient they suggest something different. Our goal is to have a local neurologist, because it would be nice to have a neurologist who is affiliated with the hospital where Ethan receives the majority of his care.

Ethan is currently on three anti-seizure medications (Keppra, Topamax, and Phenobarbital). The first anti-seizure medication he tried more than three years ago was Depakote, and this fall we tried Onfi, but that didn't seem to be helpful in controlling the seizures and really impacted his balance and mobility negatively. Our neurologist admitted that Ethan's seizures have reached a severity that she typically doesn't see and that it is time to see a pediatric epileptologist (epilepsy specialist). We asked to be referred to someone in Iowa City, if possible, since Ethan already has his eye doctors there and if we are going to have to drive Iowa City is just as close as St. Louis or Chicago and is a much easier drive. Dr. K. found out that Iowa City does indeed have a pediatric epileptologist, who went to medical school at Washington University and completed his residency there as well, so she felt comfortable in reaching out to him and making a referral. We left the appointment knowing that a referral would be made and that hopefully we would get to have Ethan seen by a pediatric epileptologist soon and that we'd see Dr. K again in May.

It was just after 5pm when we left and headed back home for our 7:30pm pediatric after hours appointment to address the continued diarrhea. Since it was almost 7:00pm when we arrived back in town we went through the drive thru for dinner, filled the van with gas, and then headed to the appointment.
Waiting to see the doctor at pediatric after hours.

Poor guy!

Can we go home yet?
The pediatrician checked Ethan out and sent us home with a "poop kit" so that we could collect a stool sample to have tested for C-Diff. If Ethan tested positive for C-Diff it would be important to address it with the proper antibiotics ASAP, but he hoped that the lingering diarrhea was simply because the antibiotic he had taken for strep throat was still working itself out of Ethan's system. After a very long day we finally got home around 8:30pm, nearly 12 hours after we left.

Thursday, February 18th -- We kept Ethan home and by mid-morning I had collected the required sample, which Ethan and I then took to the lab for testing. Afterwards we took a detour to Target because we needed several household items but this mom was also in search of discounted Valentine's Day candy. I had hoped to be able to attend a school district meeting in the evening, but Jeff had to work late, so we simply spent a calm evening at home.

Friday, February 19th -- Around 3:00am Ethan woke up crying and seizing. He was inconsolable and the seizures seemed "smaller" but they continued to cluster, with one ending and then him almost immediately going into another one so we had to once again administer rectal Diazepam. After the medication calmed him down and he fell asleep we carried him back to bed where I curled up beside him where I watched him and prayed until I fell asleep too. 

Ethan was pretty sad and tired most of the day and took a very long nap in the afternoon. We found out that thankfully the stool sample was negative for CDiff. We also heard from the neurology department at the University of Iowa and were able to get an appointment scheduled to see the specialist this month! This is sooner than we ever imagined possible, which is a huge praise, because we really want to know we are doing everything we can to try to help get the seizures under control. I hate seizures!

Saturday, February 20th -- We didn't have anything planned for the day, which was good because I woke up with an enormous headache so I was very thankful that Jeff and Ethan were able to play while I rested for a couple of hours. After lunch Ethan took a very long nap and Jeff headed to the grocery store to get a few essentials for us since I hadn't been to the grocery store all week. Ethan didn't have any seizures that we know of but it was pretty clear that something was still off.

Sunday, February 21st -- This morning we did go to church but I ended up bringing Ethan home after Sunday School. He just wasn't acting like his normal self and although he hasn't had a fever or anything I just thought it would be best to go home. Before I left a friend prayed with and for us, which was nice and much needed. Jeff stayed for the worship service and said that it was good. The audio isn't uploaded yet, but you can find the outline here.

Ethan was pretty calm during the afternoon, not as active as he usually is, so perhaps he is still a bit wiped out from the seizure episode on Friday. Although we were a little late we did make it to our small group tonight. Honestly, it would be easier to just stay home, but we never regret going when we do. We continue to be thankful for these brothers and sisters in Christ who God has put into our lives since we moved here. Ethan was pretty restless but several of our friends took turns watching and playing with Ethan so that helped.

The Bible passage that we read and discussed tonight was Ephesians 3:1-13. You can find the passage in the English Standard Version (ESV) translation here, but below is the passage in The Message paraphrase, which uses contemporary language to engage people in reading and understanding the Bible.

1-3 This is why I, Paul, am in jail for Christ, having taken up the cause of you outsiders, so-called. I take it that you're familiar with the part I was given in God's plan for including everybody. I got the inside story on this from God himself, as I just wrote you in brief.
4-6 As you read over what I have written to you, you'll be able to see for yourselves into the mystery of Christ. None of our ancestors understood this. Only in our time has it been made clear by God's Spirit through his holy apostles and prophets of this new order. The mystery is that people who have never heard of God and those who have heard of him all their lives (what I've been calling outsiders and insiders) stand on the same ground before God. they get the same offer, same help, same promises in Christ Jesus. The Message is accessible and welcoming to everyone, across the board.
7-8 This is my life work: helping people understand and respond to this Message. It came as a sheer gift to me, a real surprise, God handling all the details. When it came to presenting the Message to people who had no background in God's way, I was the least qualified of any of the available Christians. God saw to it that I was equipped, but you can be sure that it had nothing to do with my natural abilities.
8-10 And so here I am, preaching and writing about things that are way over my head, the inexhaustible riches and generosity of Christ. My task is to bring out in the open and make plain what God, who created all this in the first place, has been doing in secret and behind the scenes all along. Through followers of Jesus like yourselves gathered in churches, this extraordinary plan of God is becoming known and talked about even among the angels!
11-13 All this is proceeding along lines planned all along by God and then executed in Christ Jesus. When we trust in him, we're free to say whatever needs to be said, bold to go wherever we need to go. So don't let my present trouble on your behalf get you down. Be proud!

Although we were the first to leave, and I'm sure that the discussion continued afterwards, the time that we did have pondering the meaning and the application of this passage in our daily lives as 21st century Christians was thought provoking. Knowing about God's love and the offering of the gift of forgiveness and reconciliation by grace through faith to all people is something that many of us who grew up in the church probably take for granted. However, as we tried to step back and think of what the people during the time of Christ's earthly ministry and in the years immediately following his death, burial, and resurrection, the thought that Jews and Gentiles alike would "fellow heirs" and "members of the same body" must have truly be hard to grasp. The truth found in John 3:16, "For God so loved the world, that he gave his only Son, that whoever believes in him should not perish but have eternal life." (ESV) must have seemed like such a radical and perhaps unbelievable idea/concept.

Perhaps that is your reaction to the Gospel. If so, then I'd like to challenge you to learn more about the how and why of the Gospel. Not sure where to begin? The Story is a short video that will help you understand God's story and how it all began and it will never end. I'd also like to recommend you read It's All About Jesus! and How to Become a Christian. If you do not consider Jesus Christ your Lord and Savior, my prayer is that today your heart and mind would be open to his gift of grace through faith and that you would be forever changed.

Prayer Requests

  • Upcoming appointment with the pediatric epilepsy specialist. Pray that the right medication and/or combination of medications would be found that would help us control Ethan's seizures.
  • Sleep study near the end of March to determine whether or not Ethan has sleep apnea. Pray for the test itself, which will likely be very traumatic for Ethan and also for wisdom about the possibility of surgery to remove Ethan's tonsils and adenoids if sleep apnea is diagnosed. 
  • Ethan's overall health and energy level. PBD-ZSD is a metabolic disease, so his little body is always working really hard and even normal childhood illnesses, such as strep throat, a cold, or the flu can really wreck havoc on him (and us). 
  • Upcoming GFPD fundraisers: Pound the Pavement for Peter on March 19th in the Atlanta, GA area; Tee It Up! For the GFPD on May 19th in Bloomington-Normal, IL; and the Ilan-a-thon on June 4th in the Baltimore, MD area. 
  • Potential GFPD fundraisers organized by our family: Our family hosted a couple of successful Pancakes for PBDs all you can eat pancakes and sausage breakfasts before we moved, and we would really like to see if it is possible to revive that as an annual event since we still have friends and family in the Decatur, IL area. We would also like to work on getting an annual Pasta for PBD all you can eat spaghetti dinner organized and started where we live now. Friends --- for these to be successful we will need help! 
  • Wisdom, guidance, and favor for all the doctors, researchers, scientists around the world who are treating children with PBD-ZSD and/or working in labs to better understand and hopefully discover potential treatment options. Would you consider even praying specifically by name for the men and women who serve on the GFPD Scientific Advisory Board
  • The GFPD's leadership team and all the families impacted by PBD-ZSD. 
  • Ethan's team -- the doctors, teachers, assistants, therapists, etc. who work with him and want to see him reach his fullest potential.
  • Encouragement, strength, wisdom, patience, contentment, joy and peace for Jeff and I as we fight through the daily routines, the uncertainties, and the grief associated with this disease and its impact on Ethan and us as individuals, a couple, and as a family.