The Journey We Are On.....

It's that time again to head back to school! Ethan loves school, which is great. We know that we are extremely blessed to have a great team of professionals who work with him daily. When we first received the PBD-ZSD diagnosis I couldn't even imagine that Ethan would live long enough to go to preschool, let alone make it to elementary school. Even as I write this I can't help but think of all of my friends who aren't able to share first day of school pictures. " Dear Kindergarten Teacher: My son will be absent on the first day of school " is a beautiful tribute to bereaved parents everywhere.  As school starts this year we are also thinking about and praying for our former foster daughters who are now back home with their biological parents. Driving by the bus stop, instead of walking down there with three children in tow, like I did the previous two school years, on the first day was a bit emotional. Since we don't live in the same town, that means t...

Jason Johnson is a writer of a blog and several books about fostering and adoption. One of his recent posts " Foster Care, Adoption, and Saying Yes to the Unknown " is a powerful and insightful look into the life of a foster parent. I'll be the first one to admit that when we said "YES" to two little girls who needed a family that we never thought that I'd be writing about the girls return to their biological parents. However, a little over a week ago our two foster daughters moved back in with their mom and dad. " Saying Goodbye To The Foster Care Child I Fell In Love With ," isn't exactly like our story, but there are a lot of similarities, and gives you a bit of a look into what we have experienced and are now experiencing. We are heartbroken and grieving. We miss them so very much, be we also know that they are loved and that they are happy. This summer as we prepared for this we spoke openly and often about the fact that you can be b...

When I started this blog I don't think that I could have imagined a time would come in which months would go by without me writing. However, that is what has happened. So much has changed over the last almost eight years since Ethan's birth and subsequent diagnosis with PBD-ZSD, yet at the same time so much hasn't. Unlike parents of typically developing children we find ourselves still parenting a child with complex medical needs who's developmental skills range anywhere from 9 to 18 months. Ethan still has PBD-ZSD, and right now his uncontrollable seizures are a major issue. We still fight PBD-ZSD the best we can each day with a basket full of medications and supplements and other medical interventions (feeding tube, cochlear implant, AFOs, etc), numerous therapies, school (which Ethan loves), and prayer. We advocate for him and all children and families impacted by PBD-ZSD and related peroxisomal disorders through our involvement in the Global Foundation for Perox...

October 5 th is a special day for our family as we celebrate #PauseForPBD , the annual awareness day for The Global Foundation for Peroxisomal Disorders (GFPD) . [Jeff's birthday also happens to be October 5th but he doesn't seem to mind sharing it with #PauseForPBD day.] Our son, Ethan, is 7 years old and is one of less than 200 children, known to the GFPD, living worldwide with Peroxisome Biogenesis Disorder (PBD).  Ethan has a contagious smile and laugh, despite the fact that PBD has caused him to have severe cognitive and physical delays. Peroxisome Biogenesis Disorder (also known as Zellweger Spectrum Disorder), is a rare, genetic condition affecting multiple organ systems in the the body. PBD is generally fatal in childhood. As a parent, it is difficult to express the sense of loneliness and feelings of isolation that enter your life when your child has a rare genetic disease that most people have never heard or and has no cure. However, #PauseForPBD, is a d...

On July 13th and 14th over a hundred scientists, clinicians, and students came to Washington D.C. to attend a conference focused on the Development of Therapies for Peroxisome Biogenesis Disorders . The keynote speaker was Dr. Francis Collins, the Director of the National Institutes of Health (NIH) . As a parent of a child affected by PBD-ZSD it is hard to adequately describe how much it means to know that there is growing interest in finding treatment for rare diseases. In addition to the scientific portion of the conference was a separate conference designed specifically for families. More than 40 families from the US, Canada, and the Netherlands came together in the largest GFPD Family Conference to date. Check out the welcome video below. Jen Kerckhoff, a fellow GFPD Board of Directors member, wrote a wonderful article about her experience which you can read on the TulsaKids blog. Jen is one of just two members of the Board of Directors who is not a parent of a child...

Ethan was diagnosed with strep throat on Monday, May 22nd. He was prescribed a 10 day antibiotic which finished up Thursday (June 1st). Thursday night we had to administer his rescue medication to stop his seizures and we had to do this again Friday morning. After giving him the rescue medication on Friday morning I took him to the ER. We were admitted and spent the night. Blood and urine samples were "okay," but the nasal swab was positive for a cold virus. So, sometime during the treatment of the strep throat Ethan also caught a cold. He is still extremely lethargic, but we didn't see any seizures today. We got home around 5pm this evening.  Jeff did an amazing job holding down the fort here at home while I stayed at the hospital and I'm very thankful for the friends that helped out yesterday so that Jeff could come visit us for a bit. Prayers for Ethan's continued recovery and for no more breakthrough seizures is greatly appreciated.

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...