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 turned one on Saturday. Turning one is a major milestone for a kid with PBD. Eleven months ago were weren't sure if we'd make it, but by the grace of our Lord Jesus Christ, we have been given our first full year with our son. We love Ethan so much and we were so proud to be able to share his birthday weekend with family and friends.
We had a wonderful family celebration on Saturday afternoon and on Sunday afternoon we celebrated with our church family and other dear friends and loved ones.
Yep, that is right, Ethan has a COLD.... I'm not sure where he got it from, since it has been so HOT here! :)
We cancelled PT for the day and headed to the doctor (better safe than sorry) and were told that Ethan's cough, running nose and watery eyes were just a cold and that he would just have to work through it.
So, we headed to Springfield for our afternoon ENT and Audiologist appointments. Let's just say Ethan was less than cooperative. We did get impressions for new ear molds made though, and they will be in when we get back from Omaha!
Today he weighed in at 21 pounds and 3 ounces (50th percentile) and measured 30 and 1/4 inches long (almost 75th percentile).
We are so proud of our little man. We've come a long way from the early days of his "failure to thrive" diagnosis and visiting Dr. Smith's office every day to get weighed in just to make sure he was gaining weight and staying hydrated.... wow, what an answer to prayers.
Prayer Requests Please continue to keep Ethan in your prayers. PBDs are unpredictable and although he is doing really great with his weight right now, depending on Ethan's ability to transition to more solid foods, etc. there may be a time that he struggles to maintain proper nutrition and growth (most kids with PBD are small and struggle with eating/proper nutrition and many are tube fed, to insure adequate calories/hydration).Please pray that Ethan would continue to transition to more solid foods and that he would learn to drink out of a sippy cup. …
Ethan's first birthday is only eight days away. Wow, what a year it has been. If you would have asked me on Friday, August 20, 2010 (the day that Ethan was diagnosed with PBD-Zellweger Spectrum) if we would be getting to celebrate Ethan's first birthday, I probably would have just burst into tears and not been able to say anything..... But, the Lord willing, we are going to make it --- just eight days to go to a huge milestone for any child, but especially one with PBD. I still have days that the tears flow freely - I've had at least two of those days this week, but most days it is very hard to even remember how I felt when we first recieved the news that our beautiful baby boy was not well. This has not been the year I would have every expected, but I am thrilled that I can hug, kiss and hold my little boy and we are celebrating the blessing that he is to everyone who knows him.
Since Ethan's diagnosis I have thought to myself and sometimes aloud more times than I…
Somehow it seems like it has been a long week, although I'm not sure why since Monday was a holiday. Maybe it is because in addition to the tons of pictures I take here at home of Ethan, we had professional pictures taken not once but twice this week!
Jeff was off today. He returned from his trip to his cousin's wedding in Georgia late on Sunday. We had a nice lunch out and then spent the evening with some friends. I was a bit nervous about Ethan and the fireworks. I made sure that I took out his hearing aids so that they wouldn't scare him too much. I was hoping that he might react to them visually, but in the end it didn't matter - he slept through them! Maybe next year! :)
Today we went to our playgroup at Baby Talk. It is so hard to believe that Ethan is now one of the older kids! I enjoy this time each week. I enjoy being with other moms and doing something that doesn't involve therapists or doctors. Yet at the same time it is getting harder and h…