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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Please support children with PBD and their families!
April 3, 2012
Dear Friends and Family,
As you know, our family has dealt with the heartbreak of our son’s
diagnosis with a genetic disease, since Ethan was just 28 days old. His
condition is called a Peroxisomal Biogenesis Disorder (PBD) in the Zellweger
Spectrum of Disorders. As we learned about the disease that we were told our
little boy had, we knew that this was going to be a journey that no parents
want to be on. PBDs are rare, genetic, metabolic, terminal conditions affecting
all major systems of the body. Children with PBDs commonly experience
sensorineural hearing loss, vision loss, hypotonia (low muscle tone), seizures,
developmental delays, liver and kidney issues, problems with bone formation,
feeding issues, and adrenal insufficiency. Approximately half of all children
born with PBDs die before their first birthday and very few children live past
the age of 10. Right now, the Global Foundation for Peroxisomal Disorders knows
of only about 90 children in the world that are living with this devastating
Last July we were thrilled to celebrate Ethan’s first birthday
with family and friends. Despite the many challenges that Ethan faces he
continues to be a happy little boy. Over the last year Ethan has made progress
– he has recently learned to combat crawl, sign “eat” and “more,” is becoming
more tolerant of his hearing aids, and seems to be more aware of the world
around him.Ethan has weekly physical
therapy, occupational therapy, speech, and hearing services; bi-weekly vision services
and monthly dietitian visits from his dedicated therapists. He also began an
experimental trial of a medicine called Cystadane in October 2011, with the hope
that the medicine will increase the function of his peroxisomes. Ethan will
have blood work done in late April to determine if the Cystadane is working.
While this would not be a cure to PBD, any new treatments that could improve
the quality of life for children with PBD would be a huge breakthrough and
blessing. Ethan is currently the only child with PBD who is taking Cystadane,
but there is hope for a formal clinical trial to begin by this summer.
Ethan’s disorder has changed our lives in so many ways. It has
caused us to really treasure the blessing of each day we have with our little boy.
We have also become actively involved in the Global Foundation for Peroxisomal
Disorders (GFPD), the non-profit organization dedicated to helping families
impacted by PBD. Pamela has even taken on a leadership role in the GFPD as
their Family Registry and Support Group Coordinator, and last summer we were
able to attend the first annual GFPD Conference in Omaha, Nebraska.
The GFPD has united and empowered families across the world
affected by PBDs with a stronger voice in the medical and scientific community
to help drive research, treatment, and (we hope) ultimately better outcomes for
children affected by this devastating spectrum of disorders. This summer we are
once again planning on attending the GFPD Conference, which this year is being
held in Orlando, Florida from July 30th to August 2nd. We would not be taking a “vacation” to Florida
if it wasn’t for the opportunity to gather with others who understand this
disorder, learn about the latest PBD research and have Ethan seen by the top
PBD specialists in North America.
We would like you to consider partnering with us by making a
contribution to the GFPD that will help our family and other families like us
attend this year’s conference. Our estimated cost to attend the conference this
summer is $2,500 (which includes conference fees, travel expenses, lodging, and
meals). These costs could be even greater for families who have farther to
travel. Therefore, we are going to be splitting the funds that we raise -- with
half going to help with our expenses and half going to help other families
through the GFPD Family Conference Scholarship Fund.
We are hosting “Pancakes for PBD” on Saturday, May 5th
from 7am to 11am at our church (First Baptist Church located at 720 W. Main Street
in Mt. Zion, IL) to help raise awareness for PBDs and funds for the conference.
The cost will be $5 a person. Children under the age of five are free. We hope
that you will join us!
If you aren’t able to attend the “Pancakes for PBD” event but would
still like to contribute, donations can be made online or by mail. Online
donations can be made through the Global Foundation for Peroxisomal Disorders
by designating the “Marshall Family Conference Fund” or by mail to:
The Global Foundation for Peroxisomal
South Harvard Avenue, Suite 181
Tulsa, OK 74135
Thank you for your continued thoughts, prayers and support. We are
so very blessed to have so many people who love our family.
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…
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…
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…