What I despise the most in the summer is going for all Elizabeth's medical appointments. I absolutely hate spending a summer day sitting in dirty hospital waiting rooms trying to keep her occupied (as above we were playing playdough that I had stashed in my purse) and fighting hours of traffic to get in and out of Toronto. Elizabeth continues to puzzle and baffle every Doctor we meet with her varying symptoms. This summer we have seen some of her regular Doctors and also some new ones each one mystified by this 'very interesting and bright child'. As her Movement Disorder Specialist is away we met with the Doctor who trained her. I thought Dr. L in in his endless years of working may give us a glimpse as to what her diagnosis is. Dr. L. was interested in how she moves and specifically how she gets up to standing (think beginning walker on both feet and then pushing up with her hands). He feels she has both Dystonia and Ataxia but is not sure why, he does not feel this is related to prematurity. He was honest in stating that there was nothing than can be done for Ataxia presently and at least he was not too favorable of deep brain stimulation. The only options left for diagnosing were muscle biopsy and cerebral spinal fluid testing, we opted 'no thanks'. We also have seen the Geneticist who once again found Elizabeth's symptoms puzzling and does not feel her balance issues relate to prematurity. Her options; more blood for DNA testing and repeat Friedrich's Ataxia testing (this will be her 3rd time being tested) to rule out a rarer form. She also questioned whether Elizabeth has Perrault syndrome but this cannot be tested presently so we would need to wait until she hits (or doesn't due to the syndrome) puberty. We once again opted for 'no thanks'. Both Dr's think that her hearing impairment (Auditory Neuropathy) may be a key to her diagnosis as it is recently being linked with many disorders.
We feel all this invasive testing at the present is not fair to Elizabeth. A diagnosis of a rare syndrome will not change who she is or what we are doing for her and the search to find out why she is the way she is would just add extra stress on her and us. Her Neurologist was not too happy with our decision and said it could impact her children but Elizabeth has lots of time to decide what she wants done with her body until then we will stick up for her.
We of course tomorrow need to get up at the crack of dawn to see her Audiologist and the ENT, I hope it is rainy so we won't be cooped up on one our few summer days we have left.
