First, I would like to start out by saying thank you to everyone who commented on Addy's last post about the Tiger's game. We had an overwhelming response from so many about just how touched they were by the story and how they have continued to tell the story to others. We felt just as touched to hear from each of you. Thanks for all the love and support you show for this little girl.
Now, on to the best part. We have a call reversal from the neurologist. Dr. Ascadi called to say that he had an opportunity to review all of Addy's x-rays and MRI's from birth on while sitting with a radiologist. It became very apparent now that he knows Addy and was able to talk about her to the radiologist that the last MRI clearly showed that she has Klippel Feil Syndrome. As soon as I heard the news that Addy had fused vertebrae, I thought for sure she would be given this diagnosis, but the neurologist felt differently at the appointment. This now explains the low hairline, short neck, cleft palate, fused vertebrae and the kidney issue.
So, he stated that congenital muscular dystrophy is not what he feels she has, (a big sigh of relief), however, Klippel Feil Syndrome does not explain the overall muscle weakness that she has especially the weakness in her legs along with some other minor abnormalities. So, now the question becomes, does she have something else going on as well? Does she still have what some would consider Arthrogryposis? Where do we go next?
Dr. Acsadi would like to rule out a dystrophy all together just to be sure. This can be done with a simple blood test. Then our next steps are to be this. An EMG muscle test will come first. If that shows us nothing, we can move on to an MRI of the muscles of the legs and then last, but hopefully not needed would be a muscle biopsy.
The EMG and blood test are scheduled for this Thursday. The EMG will require slight sedation as they actually send electric shocks into the muscles to record the responses. We will be heading to Children's hospital for both in the afternoon. Then the following week we are off to see a specialist for the kidney issue and the week after that we spend one night at the hospital for Addy's 24 hour EEG.
My list of questions continues to grow and now I am on a mission to find a specialist who deals with Klippel Feil Syndrome. I think I might have found one out of UofM. Dr. Acsadi would also like us to begin attending the Muscular Dystrophy clinic through Children's Hospital. Even though we don't think it's a dystrophy, whatever is going on is very muscular related and he feels
she would benefit from the clinics. So, our first clinic is coming up May 12th. My head is spinning with all the medical things we have done so far and how much we still have coming up. Can we fit all this in before the next munchkin arrives???? We shall see!