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Waiting...

We are currently playing a bit of a waiting game...

This morning I woke Ethan up early and put him in the car, PJs and all, and headed to Carle Clinic in Urbana. Ethan had to have baseline blood work done so that he can begin the Cystadane (betaine) medicine when in arrives in the mail. The test were "fasting" tests, so he had to wait to eat until after the blood draw. I hate blood draws, especially fasting ones because it can be so hard to find his little veins. They did have to stick him twice this morning, but he was a real trooper. He always is. He has been through so much in his 14 months.

So now we are waiting for the medicine to arrive. Please don't be fooled, Cystadane is not a cure to PBD. Actually, they aren't even sure if it will "work" in kids with PBD. It has only been tested in the lab on skin fibroblast cells. So, Ethan is one of the first PBD patients to take the medicine. This scares me some.... but what scares me more is what if it does help and we wait until we aren't the first and then wish we hadn't because it could have been more helpful if he would have begun taking the medicine earlier. Here is a link to the article that was published that shows evidence that betaine may be beneficial to children with peroxisomal disorders: http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2851769/

So, now we wait. Wait until the medicine arrives and then wait to see if it helps. What are we expecting it to do? Well, the hope is the Cystadane will increase Ethan's peroxisome function and because of increased peroxisome function his very long chain fatty acids (VLCFAs) will lower. After taking the medicine for 4 weeks Ethan will have another blood draw, which we can do here in town, just to check to make sure that his liver functions aren't being impacted. Then in six months they will do a full repeat of the baseline tests (VLCFAs, plasmagens and liver function) to see if there has been any change.

If there are positive changes, what might this mean? We aren't sure. We'll just have to wait and see.... Part of the "problem" is that we have no idea what the course of Ethan's disorder will be. Every child that has PBD is a unique individual and the disorder impacts each child in a different way. So, with Ethan being so young, there is no way of really knowing how much the treatment might help, if that makes any sense.

In addition to waiting for Ethan to begin the Cystadane treament we are waiting and counting the days until we get to move into our "new" home. We close on our current house this Friday! Then we are off to Jeff's parents' house for several weeks while we wait to be able to close on our new home. We are so excited about our new home. It is a ranch with very few stairs to navigate. The front has actually already been ramped for a wheelchair and the only other step in the house is a small step down onto the screened-in porch. The house also has a playroom/office right off of the living room, which is great! I am looking forward to having a place for all of Ethan's toys and therapeutic equipment. The house needs a little bit of work and it may take a little time to make it feel like home, but we are very excited. Waiting is hard though... we just want to get the keys and start working on making it ours... We are very blessed though that our house sold so quickly and that we have a loving family that will take us in for a bit.

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Here we go again!

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