Saturday, January 31, 2009

Cleveland II

We had a great time as a family on our adventure to Cleveland. The boys are great travelers in the car, and Ellie did great too. The trip takes around 5 hours. The way there took more like 6 because of the weather. The roads near Cleveland were really bad, and at more than one point I worried that we would not make it in time for the appointment! But we did, just in time.

The boys were well-behaved in the doctor's office. The appointment took 2.5 hours! But the doctor complimented them on their patience. We were very proud of them, especially after riding 6 hours in the car and no lunch.

After the appointment we headed to the Holiday Inn. It was a really nice place to stay. It was quite empty and the staff was very nice. We had the pool to ourselves the entire time, including the hot tub. In the morning we ate at the hotel restaurant at what turned out to be a free breakfast buffet! We had time in the morning before packing up and leaving to enjoy the pool again. The boys really enjoyed our "vacation."

Friday, January 30, 2009

Cleveland Update

We just got home from another visit to the Cleveland Clinic to see yet another doctor, Dr. P. in hopes of getting a diagnosis. Dr. P was very helpful, and we were quite impressed!

It is hard to explain everything about Ellie's condition on the blog, but if you are interested in hearing all the details, please ask and I will explain to the best of my ability!

Dr. P agrees with what we know so far: that Ellie's has a problem with her myelin. The purpose of the myelin is insulation around the nerves to increase the speed and prevent interference of the impulses. We already know that Ellie is receiving impulses at about half the speed of a normal child her age. We know she has a problem with the myelin.

Dr. P also gave us a nice little talk on DNA and how the researchers look at it. Unfortunately there are no tests that can quickly look at all the DNA and look for the problem. But, there is a test that looks at a pretty significant chunk to see if there is anything missing or added to the sequence. For some reason Ellie has not had this test, so that is the first order of business. Dr. P thinks that Ellie has a mutation somewhere in her DNA, it is just a question of where. It is also a question of whether she got that mutation from me and Adam, or whether it was a spontaneous mutation.

Dr. P has a chart of all the likely tests that could be run and he crossed off the ones we had already done. He definitely spoke my language! He was so organized and was able to spell out everything we had done in a clear way that no doctor had done yet LOL! So, we have a few other tests that had been overlooked that we should run just as a matter of course. He did not think any of them were actually that probable, but they should be run just so that we can check them off.

So basically what I am trying to say is that we now have a clear and logical path in our testing. No more shots in the dark so to speak. We will start with the new DNA test. We also may be repeating her MRI, along with some other testing.

Another piece of news is that Ellie's local docs are all meeting next Friday to talk about one thing: Ellie! They are going to brainstorm and talk about a course of action for our girl. So things are definitely moving forward!

We still do not know much about our mystery girl, except that she is a gift from God and a blessing to everyone she comes across.

Saturday, January 17, 2009

New Videos

I wanted to share some new videos with you. Ellie has been vocalizing a lot lately. We continue to be amazed by her voice and so thankful for her Passy-Muir valve.

This first one shows how she is experimenting a little with different sounds. Sorry it is so shaky, I was holding her in one arm and the camera in the other.

This next video is of Ellie crying. We used to think that Ellie really did not ever cry hard. It turns out we never knew since she makes so little facial expression and before we had her Passy-Muir valve we could not hear her. It still amazes me to hear her cry, and we might be a little too excited to hear her cry sometimes!

Tuesday, January 6, 2009

New Bath Seat

The long awaited bath seat arrived last week! There is nothing like a long bath to clean the "sickness" off of you after you are feeling better! I think this will be very useful with Ellie. I might be able to bathe her by myself now.

oh, and we're all feeling great now. Thanks for your nice comments and prayers!