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.
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Praise God! We are so happy to hear the news.... we will continue to pray for answers!
ReplyDeleteIt's a true blessing to see you be such advocates for your little one. I pray for strength and wisdom as you continue on your journey. I hope to meet you all in person this summer.
ReplyDeleteVery hopeful news. Glad the Cleveland Clinic went well, and you may be getting some answers...finally! Keeping you in our prayers, and hopefully we can get our little ones together soon:)
ReplyDeleteGlad to read the update. You are such wonderful parents.
ReplyDeleteSounds like you had a good trip and it was great to hear the doctor's approach!
ReplyDeleteThanks for updating so promptly after your return! We were so much wanting to know how it went, and whether this new neurologist had any fresh insight or difference in approaching things. Wow! This sounds to have been a VERY worthwhile trip for you guys and Ellie. We are really thankful, and keep praying that more pieces to the puzzle will be found, and that Ellie will reach her full potential.
ReplyDeleteWe love you guys!
the Hunters
thanks for the update! It sounds like a good visit and an excellent doctor (love his organization!) I was also glad tohear that all of Ellie's doctors are meeting- that sounds very promising. People working together!
ReplyDeleteThanks for the update - glad to hear of some promising things on the horizon! We continue to keep you all in our thoughts and prayers. Blessings to you!
ReplyDeleteThanks for the update. So happy to hear about the new doctor at Cleveland Clinic and the further testing that can be done.
ReplyDeleteWe pray for Ellie and the rest of the family daily.
Love, hugs and prayers from across the many miles, Julie & Philip
Yeah for a clear direction! It's great an appointment with a specialist goes well. Praying that you'll get some solid answers.
ReplyDeleteAnother great story Em. I'm still not sure if you are a medical doctor or an author, but either one is possible. Say Hi to all the boys and Ellie for me.
ReplyDeleteUncle Bob
The most important sentence in your entry is the last one: "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."
ReplyDeleteSo glad to be kept updated!!! Good luck with the new tests!