Once again things did turn out as expected. We visited Elizabeth's Neurologist with her new MRI results and was hoping for a final diagnosis of Ataxic Cerebral Palsy with her new results. It did not go as planned, he does not feel she has CP and is still wanting to rule out other genetic and degenerative conditions. He feels that the changes in her 2nd MRI may be as a result of a degenerative condition and has taken her MRI to many colleagues for their opinion. I don't think he believes me when I told him that Elizabeth is improving with her balance, we are amazed by her continuing progress he just sees a very smart but wobbly girl. He also wonders if Elizabeth's symptoms are dystonic (varying tone) instead of Ataxia but one of her diagnostic signs does not meet the criteria of CP; when he elicits a response in her foot her toes point down (CP points up). He also is looking into a cerebellum disorder such as Joubert syndrome and is still questioning Frederich's Ataxia (but the lab had lost her blood so we have to do again). He is quite concerned and wants to help us but cannot come to a conclusion so we wait again. We will be seeing a Motor Disorders Neurologist at Sick Kids, he feels this Dr. can be the only one to help us and maybe offer treatment. We are still waiting to see Genetics and maybe they can help to come to a conclusion, our biggest concern is that this can be passed on to other children.
Good news her EMG was okay so it rules out a neuropathy and we don't have to do it again. Having needles stuck in her leg with electricity going through was not a good experience for Elizabeth or Mom it was quite painful for her. She is again on a waitlist for another sedated MRI to ensure there are no new changes.
We would love everything to be okay for Elizabeth but the reality it is not and we can handle that. It's the constant what if's and waiting for a diagnosis part that is getting a bit long, drawn out and not fun. Elizabeth should be at home playing not being tested for everything under the sun.
4 comments:
Reading this makes me question if Kellar needs to be seeing his neurologist again. When Kellar first started therapy they had his diagnosis as ataxia but they are the only ones to have mentioned it. I sometimes feel like I'm not on top of things like that and I want to be, kwim? Sorry that Elizabeth has had to undergo so much stuff here lately, I hope you all find the answers you're looking for soon..
I thought I should say Hi i found your blog a little while ago and have been reading your posts seems my daughters is just a little younger then yours she arrived at Sickkids NICU when you were going home Easter '05 and she also does Medek therapy since she was really little. Sorry to hear the unsettling worry of the neurologist. I too worry about all the test my daughter has to suffer through many days i wish i could do the test not her and she already has a diagnosis. Yet the test don't end. Awesome sitting in the chair she really looks like she is doing really great in so many ways.
I'm sorry, I can't imagine how frustrating it must be to not have a diagnosis. My situations a little different, we pretty much knew Max was going to be diagnosed with cerebral palsy, given the brain damage at birth. Getting the official word was fine, because it made getting services easier.
I am glad Elizabeth's EMG was OK.
She will get through this and get back to playing and being a kid. It's probably bothering you more than it is her, we often project our feelings onto our kids, I think.
I'm so sorry for all the testing with no solid answers. That is so frustrating! I'm glad you have a doctor who is interested in helping you find the answers. I hope your future doctor appointments will bring some hope.
Keep up the snow play Elizabeth! We wish it would snow here in Alabama, but it never does.
-Patty
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