Thursday, November 19, 2009


These past 2 months have been extremely busy with appointments for Elizabeth and I can pretty much say not one of them has helped us at all, it has only left me more confused. We met with her Movement Disorder Specialist, a Metabolic Dr., saw her Developmental Pediatrician and her Neurologist. Most Dr's have their own opinion regarding Elizabeth and why things are so difficult for her. Her Movement Disorder Specialist stands firm that it is Dsytonia related to her Prematurity (which I would assume is Dystonic CP), the Metabolic Dr. was leaning towards a Cerebellar Disorder, her Developmental Pediatrician did notice some dsytonia on assessment and and her Neurologist feels strongly Elizabeth has a genetic Cerebellar Ataxia (not at related to her prematurity). We did go over MRI number 3 with her Neurologist and he agrees this is not a degenerative disease (we can cross off one thing) but that the atrophy of her cerebellum, basal ganglia and superior vermis is not related to prematurity. He wants us to go back to Genetics and ask her to be tested for genetic Cerebellar Ataxia's.
After meeting with her Developmental Pediatrician we agreed to Dystonia and I have accepted it as much as I can but now after meeting her Neurologist I am so confused and fed-up. We are getting near the date of when Elizabeth needs to be enrolled in school and a diagnosis is needed to get her services and support at school. I am so tired of dragging Elizabeth from hospital to hospital to see Specialists and I cannot forgive myself if I have to pin her down one more time while somebody pokes her. Elizabeth needs to be at home playing with her friends, playing with her toys, getting fresh air, eating at the table (we have so many meals in the car) and working on the areas where she has difficulty. Elizabeth should not be sitting in rush hour traffic watching her DVD's and be exposed to so many nasty hospital germs. I don't know what to do now, I will talk with her Developmental Pediatrician to see what she suggests, for now I am hiding from Genetics who have called again wanting to book us in. I will leave you with some pictures Elizabeth had taken while I was talking to her Dr., this was an especially fun day as we waited 3 hours to see this Doctor.

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Sherry C said...

That all sounds very frustrating, Ashley has many issues but we don't go to many clinics visits anymore just passing many, many hours in therapy but I guess we had the luxury of an early diagnosis at six weeks ( it was the most painful words I had ever heard at time and took years to sink in). I hope you get the answers your looking for and even more important the services in school she deserves. I was told Ashley's lucky she getting lots of help at school .. I have to blog about it this week as we just finished her IEP and had a Single Plan of Care meeting with her entire team -15 people attended..

abby said...

I wish I knew what to say. The whole situation of diagnosing what's going on with Elizabeth is, as you say so aptly, frustrating. As the parent of someone who now has a diagnosis, yet one that does not quite fit, I'd say: treat the child, not the condition. It's the services that matter--if they help, great. If not, then ditch 'em and find better ones. Of course, it's frustrating though because, what if a diagnosis provided some sort of answer about what might work best?

Candace said...

I hate that you all have to suffer with not knowing. I like the last poster's message about treating the child and not the dx.

Anonymous said...

ditto abby's comment.

Elizabeth's photos really match the post well. Frustratingly funny.

I was trying to combine at least 2 of the doctors opinions - to make it seem a little less confusing, but I had to remind myself that dystonia and ataxia are different disorders.

Isn't CP a good enough diagnosis for school?

Wishing you strength for dealing with the blood-sucking geneticist.

Darn! Halloween is over...need a more appropriate name....or, right. The turkey geneticist. Except your Thanksgiving is already past, right?

Sorry. Still wishing you strength, Angi. Barbara