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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A GFPD friend/family member shared this today. This post, speaks of so many of the things that go through my mind on a daily basis. While the Lord has not yet added to our family and I don't have the "normal" mom experience and while I'm not sure when if every I will -- we continue to pray that someday the Lord would add to our family via adoption -- this mom beautifully captures what is going on in my heart.
Our family ended up having several Christmas celebrations, leading to nearly a week of presents, food and family. As we celebrated the birth of our Savior, my mind took me from the manager to the cross. Although I will readily admit that I don't understand everything, and I often have questions, I know that God is with me and loves me and loves my son even more than I can fathom.
The Christmas season reminds us that God loved us (humanity) so much that the story that He gave of himself and that His son who was born in the most humble of settings through the most unusual and completely supernatural way grew up to be the man who died on the cross, and rose again, defeating death so that we may have eternal life and relationship with Him!
But I trust in your unfailing love; my heart rejoices in your salvation. I will sing the Lord’s praise, for he has been good to me.Psalm 13:5-6
Family & Friends: It
has been a busy year for the Marshall family. We continue to be blessed that
Jeff has his job at Caterpillar, which keeps him busy.He traveled out of town for a couple of
business trips, leaving Pamela and Ethan to fend for themselves a few times,
but they managed. Pamela has continued her role as a stay at home mom, taken on
more responsibility with the Global Foundation for Peroxisomal Disorders
(GFPD), and continues to network with families of children with special needs
and/or complex medical issues both at the local and state level. Ethan has been
learning a lot, and while he continues to fight PBD-ZSD each day he is making
progress in his own way and time.
is a recap of our year: January: Ethan was hospitalized for RSV, learned to put the
balls in his toy dinosaur all by himself, and began to combat crawl.
February: Ethan went to his first college basketball game
(Millikin University’s “Pink” game that raises funds for breast cancer research),
I will admit, I look forward to Ethan's nap time. It isn't that I don't love my son or love being with him, because I do, but I think I can speak for most parents that most of the times babies and toddlers (and even big kids) just need a nap.
Ethan's nap time is typically the time in which I can get things done --- dishes, laundry, take a shower, do work for GFPD, and I admit that sometimes I just sit on the couch and relax for a bit. Today was a day that I had things planned for nap time. I've been working on a project for GFPD that needed to be completed, but Ethan didn't want to sleep today.
I let him cry for a few minutes before I went to rescue him when it became obvious that napping was not on his agenda. So, we curled up on the couch with a blanket and a silly Hallmark or Lifetime Christmas movie (don't remember which) and snuggled. Ethan isn't a snuggler, typically, so I just enjoyed the moment. I sang to him -- it was probably a good thing he …
As you know it has been a rough week for me. In addition to the two kids who are now with Jesus, there is a very little one, named Cash, who is presenting with severe PBD-ZSD (still commonly called Zellweger Syndrome) who needs our prayers tonight. Cash is currently in the hospital and his parents' have set up a Facebook page for him, in which they are sharing updates and prayer concerns. Please keep the Tweedy family in your prayers.
So, in the midst of all this sorrow, Ethan decided to brighten up our day. Tonight he decided that he was finally ready to start putting the coins in his treasure chest all by himself! We have been working on this for nearly six months. It may be a simple task for a typically developing child, but for kids with PBD-ZSD these are the type of things that we celebrate and shout for joy about! The fine motor and visual skills needed to do something like this are things that Ethan has to work so hard to be able to obtain. This made our day!
Two little ones with PBD-ZSD have recently left the arms of their parents for the arms of Jesus. Jackson, age 5, from Georgia passed away yesterday and today we got word that Millie, age 6, from Scotland passed away last week. My heart, and all the hearts of GFPD families across the world, are breaking tonight.
When we found out a couple of days ago that Jackson's homecoming was drawing near I wept. As I cried, Jeff held me tight and I cried, we prayed, and I cried some more. While my heart breaks whenever I hear of another one of our GFPD kid's passing, it is tougher on me when they are a family that I have met in person, and of course as I mourn for my friends' loss I also mourn for us and the reality of this ugly disease called PBD-ZSD that will someday take Ethan away from us is undeniable.
Jeff, Ethan and I had the pleasure of meeting Jackson's mom for the first time at the 2011 GFPD Conference in Nebraska, and then this summer at the 2012 GFPD Conference in Flor…
It has been a bit of a tough week around our house. This past week Ethan's "eating and drinking strike" hit a new all time low and we started off really thinking that it might be time that we have to start seriously talking with the doctors about when the right time to place a g-tube would be. Ethan has always had "issues" when it comes to eating and drinking, and has gone through numerous "phases" when he will just stop eating or drinking, but never really both at the same time for any real length of time. We know that if he stops drinking we can keep him hydrated and nourished by spoon feeding and if he stops eating we can keep him hydrated and nourished through his bottle -- but what is scary for us is when he refuses to do either. This is what we were facing this past week. Ethan hasn't really eaten well in months, but over the last week or so it had just gotten worse and worse and worse.
So, on Monday I began documenting all of his intake aga…