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.
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 adrenal insufficiency
The funds raised will go to help families attend the annual GFPD Conference. This conference is the only conference in the country dedicated solely to families with PBD. You can learn more about PBDs and the Global Foundation for Peroxisomal Disorders at www.thegfpd.org.
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 impact every aspect of our lives. Once you learn of this type of diagnosis everything in life gets so much harder, and sometimes none of the "options" you are faced with are easy ones.
Since Ethan was diagnosed so early, and prior to that had spent almost the entire first three weeks of his life in the hospital, I have always been the mom of a "sick" child. I don't know any other reality. In the last year and half we have seen way to many little ones come to this earth and leave for heaven. Despite being a part of the GFPD family it has been very lonely as I saw little ones who I thought might be on this road with Ethan for a while, be called home to Heaven, much sooner than their parents and everyone who loved them, wanted.
But in the last few months a few children around Ethan's age have been diagnosed. It has been very interesting as I get to know these families who have been looking for a diagnosis for their children for 15 months, 18 months, or even almost two years. My heart aches because I can't imagine what they must be feeling, because while we have heard the same diagnosis, it is no longer new to me. On most days the pain isn't a "raw" as it once was. Unlike the parents who are just now getting a diagnosis for their child, we have had one from the beginning. We have known that PBD is why everything is so hard for Ethan. PBD is what is to blame for all the struggles, problems and fears. PBD is the enemy and what will steal my child away from me someday.
I feel guilty that I am "thankful" to meet some moms whose children may be on this journey with Ethan for a while. I call these kiddos "Ethan's friends," although they have never met and I have only had the opportunity to talk with their moms online. I wish I could give these new friends a hug and say, "I am so sorry that we have had to meet this way, but I'm glad that you are here."
This summer we will again have the opportunity to meet some of our friends in person at the 2012 Global Foundation for Peroxisomal Disorder Family Support Conference. This year's conference will be held in Orlando, FL. We are excited about the chance to once again spend time with other families that understand this disorder and our lives. In the upcoming months Jeff and I will be trying to raise funds to help families attend the conference. We would like to have a pancake breakfast with the proceeds going to the GFPD and we will also be doing a letter writing campaign.
I would like to ask that you would begin praying for all families impacted by PBDs if you don't already. Most of the families who will be attending the conference are like us in that we wouldn't be going on a "vacation" if it wasn't for the conference and the opportunity to not only see each other, put hear about any possible new research and have a consult with the top North American experts. Therefore, many of our GFPD friends are also trying to raise awareness and support for cause and so that they can attend the conference.
When we have a date, time and location set for the pancake breakfast, I will let everyone know. We will need some help if it is to be a success and we'd love to have you all come out and eat some pancakes. :)
We are also playing around with the idea of a possible annual family biking event, "Pedal for PBD" in the future - maybe 2013, that in addition to an annual "Pancakes for PBD" could become great ways to spread awareness and support for these ultra-rare disorders and the families that have been changed forever because of this diagnosis.
Pray for all families impacted by PBDs. Pray for comfort, wisdom, and peace for those whose little ones are now in heaven as well as those whose children are still fighting PBD here on earth. Pray that they will find love, hope and security in Jesus Christ as their Lord and Savior if they have not already done so.
Pray for miracles! Pray for healing! Pray for treatments and a cure! Pray for the researchers that have dedicated themselves to the study of these disorders. Pray that God would give them the wisdom and ability to "discover" treatments that would improve the quality of life for children with PBD. Pray for the doctors, therapists, and teachers who are involved with children with PBD. Please give them guidance, wisdom, and understanding as they treat and teach these children - helping them reach their fullest potential.
Pray for Ethan and for us. Pray that Ethan will continue to grow and stay healthy. Pray that we will have the wisdom to continue to know how to be the best parents we can for him. Pray for our marriage, that we will always remain a "cord of three" as we try to keep Jesus at the center of our marriage and parenting. Pray that the Lord would give me peace about all the questions and worries that I have about the future.
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 little walk toward the end of supper, but other than that he did great.