Our son, Ethan, was diagnosed with peroxisomal biogenesis disorder - zellweger spectrum disorder (PBD-ZSD), a very rare genetic disease, when he was just four weeks old. There is no cure for PBD-ZSD and treatment is symptomatic. This is our PBD-ZSD journey.
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October 5th 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 day that brings o…
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 who has been di…
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 an…
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 f…
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 t…
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 …