Sunday, August 22, 2010

We will take option 'No'

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.


Anonymous said...

I am feeling bad with you for all the time wasted waiting for physicians with no answers. Perhaps the next visit tomorrow will be more useful to you both.

I wholly support your decisions to refuse more invasive testing.

I realize that when I compliment how Lizzy moves in my comments - well, you might not appreciate them or agree with me - ? You and Lizzy have worked so hard and the way I see it your work has been validated. Honestly, few children do as well as she.

I jokingly tweeted today asking if there was snow up north yet. 98F here today.

Looking forward to reading how the new school year starts for your family. Barbara

Anonymous said...

Wow. That is tough. I hear you on all the appointments, we are just getting into things here in Toronto with initial assessments and getting referrals and on waiting lists for doctors/specialists. I've been meaning to email you but it's been busy getting settled. I agree with no more tests! I'm tired of assessments for Sebastian, since we have moved a couple of times and gotten therapy in different places there have been many! Am looking forward to some stability here. We started CME at Blue Balloon. Will write you this week. Oh and a family I met at HBOT did deep brain for their daughter with dystonia/cp and it didn't change anything. It sounds very far out to me.