The Journey We Are On.....

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...

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 ambassado...

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 s...

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 m...

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 Bib...

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 cannabin...

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...

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 att...

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 P...

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 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 bette...