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.