Monday, January 12, 2009

Greetings from Philly!!

Since I know life will be crazy when we get home I am posting from Jer's aunts house. We got here Thursday afternoon and saw Dr. Bonnemann on Friday. It was an interesting visit and definitely not what we expected. They finally finished all of the testing on Kai's skin biopsy. From these results and the genetic testing they have come to the conclusion that he does not have Ullrich's. Dr. Bonnemann said that the collagen VI deficiency is a secondary problem. So in other words we are back to square one!! While I was happy to hear he doesn't have Ullrich's in a way I am devastated that we have to start this process all over again. For the past two years we have had an idea of what to expect in the future and now we have no idea. We do know that he has a mild myopathy and a connective tissue disorder, we just don't know which one or what this means for his future. While at the hospital they had us meet with an occupational therapist. She told us we need to have him in occupational therapy and he needs to see a developmental pediatrician. Hopefully with these two things we can make some progress with his sensory issues. Please keep Kai in your prayers as we try to find out what is wrong with him. He is such a smart sweet boy and I don't want that to change.
Thankfully only one day was spent at the hospital. On Saturday we went with Jer's Aunt Becky to take her daughter back to Syracuse University. We then drove to Niagara Falls and spent the night. Sunday we headed to Palmyra, NY to see some of the church sites. It had been ten years since I participated in the Hill Cumorah Pageant. Driving up to the hill brought back all those feelings and memories.(Anna if you read this you will know exactly what I mean.) It was very special to share with Kai all of the important events that took place there. We then drove back to Becky's, and have been just hanging out since. We go home tomorrow night and begin our new journey as a family. Thank goodness we have lots of family and friends to help us along the way.
We hope that everyone had a wonderful and safe Holiday Season!! I will post pictures from our trip and the holidays soon.

3 comments:

Caleb's Co. said...

What bittersweet news. As a parent of a child with Ullrich, I know what it takes to wrap your brain and heart around what to expect upon receiving the UCMD diagnosis. Although it's not a great prognosis, at least you know what to expect. I can understand your frustration with going back to square-one. You will be in our thoughts and prayers.
Sincerely,
Amy Gold (Caleb's mommy)

Anna said...

I know what you mean... and I'm jealous! Hopefully we'll get back there someday too!

Hillary said...

Oh Jess I am so sorry that you have to start all over. Poor little guy. We will keep you in our prayers.