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 family's journey.
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Ethan had a very busy day today. This morning his Hearing DT, Julie, came for her weekly therapy session. He made LOTS of great sounds and was in a great mood. He also played in a "ball pit" for the first time.
After a good nap, Ethan had lunch, or rather played with his lunch.
Then we headed to Jeff's parents' house for dinner and he decided to show off his mad "standing" skills.
The first annual "Pancakes for PBD" breakfast will be held on Saturday, May 5th from 7am to 10am at First Baptist Church in Mt. Zion, IL.
The cost is $5 a person.
The event benefits the Global Foundation for Peroxisomal Disorders, a non-profit organization dedicated to helping children and families impacted by peroxisomal biogenesis disorders (PBD). Our son, Ethan Jeffrey Marshall, was diagnosed with PBD-Zellweger Spectrum on August 20, 2010 when he was just 28 days old.
Peroxisomal Biogenesis Disorder (PBD) refers to disorders in the Zellweger Spectrum, which include: Infantile Refsum Disease (IRD), Neonatal Adrenoleukodystrophy (NALD), and Zellweger Syndrome. 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 adre…
Ethan is 19 months old today. We love him so very much! Ethan is now a master combat crawler and he is continuing to work on putting weight through his legs. He can now "stand" at the couch for a few minutes - with support of course. :)
What is so hard to believe in addition to the fact that he is still here with us, in light of the PBD diagnosis that we received on August 20, 2010 when he was just 28 days old, is that we have been on this PBD journey for just over 18 months.
I am blessed to be part of an amazing group of parents that are part of the Global Foundation for Peroxisomal Disorders (www.thegfpd.org). It is a diverse group of people with different backgrounds, lifestyles, personal experiences and beliefs, but we have a unique "bond" because of this horrible disorder. PBDs SUCK! They steal the quality of life from the children impacted by them and of course ultimately it steals their life. This diagnosis of course doesn't stop there -- it continues to…
I met a new friend today. Their youngest child, a boy who is almost Ethan's age, was just diagnosed with PBD. While I hate that they have received this horrific diagnosis, I am already feeling blessed to have another friend on this journey, especially another one who has a little boy so close in age to our sweet Ethan.
Please pray for Ethan's new little friend, Archer, and his family as they found out just yesterday that Archer has PBD. Ethan and Archer have a lot of similarities but are each unique in their own way.
Ethan went to his first basketball game on Saturday - a women's college game! Saturday was Jeff and I's six year wedding anniversary, and we got to spend the day with Ethan and my parents.
We took Ethan to Millikin University's annual "Pink" game that raises money for breast cancer research. In addition to MU being my Alma mater, my dad is good friends with the father of the head coach for the ladies basketball team - who is a cancer survivor.
Ethan did great! It wasn't like he really paid attention or anything, but he did great: sitting on my lap, sitting on grandpa's lap, trying to eat the program, taking a little nap on grandpa's shoulder and cheering for the team. Unfortunately MU lost, but it was a very close game. We had a good time.
Afterwards we headed home for a while and then headed out to dinner. We had a great meal out with my parents and overall Ethan did really well at the restaurant as well. Ethan and his grandpa had to go take a litt…