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Thursday, July 24, 2008

Can we take Ataxia instead?

We met with Elizabeth's Neurologist to review the results of her MRI. Her MRI is pristine not one mark on her brain, the only thing they noticed was a narrowing of her spinal cord. Her symptoms still continue to puzzle everyone, her gross motor and self help skills were between 16-20mths and her cognition and language was over 40mths. The Neurologist has many theories; Spinal Muscle Atrophy SMA, Frederich's Ataxia, Spina Bifida, peripheral neuropathies and dystrophy disorders. Many of the disorders mentioned can be degenerative and have us beyond panicked. He didn't mention to us but I noticed when he tried to elicit Elizabeth's reflexes she had little to no responses to her limbs. He concludes that none of her symptoms are related to prematurity but probably as a result of genetics or some spinal cord dysfunction. Once again we are on an emotional roller coaster and another waiting game. He sent Elizabeth for bloodwork and she once again was a brave girl letting them take 8 vials to send across the country. He has referred her to Sick Kids for EMG, nerve conduction studies and we will wait for another MRI this time of her spinal cord. The wait for an MRI continues to be 10mths, I am going to plead with her other Neurologist to put her on the urgent list at another hospital. After hearing all his thoughts ataxia seems like easy way out. Please pray that things will be okay for her and that whatever disorder she has is not degenerative and that she will stay our energetic happy little girl. We have not asked God for much in the past but at this point we don't know what to do. She means the world to us.

7 comments:

midwife said...

i stumbled across your blog through google alerts- i just wanted to give you a virtual hug. my daughter has ataxia-telangiectasia, and the wait for her diagnosis was excruciating. good luck to you and your daughter.

abby said...

I am so sorry that this is happening and that roller coaster ride has begun again. You have tons of hugs and prayers from us!

Jacolyn said...

We will be praying for Elizabeth. She is such a special little girl.

twinmama said...

All of the waiting and not knowing and fearing the worst just sucks. Hopefully the next MRI can get bumped up soon. In the meantime, keep focusing on your amazing little girl (who's quite the artist btw!) and how great she is doing. In the end, that's what's the most important thing.

Hang in there.

Shannon said...

Hey Angi, just catching up on blogs...very behind!!! I am shocked at the results from her MRI. I think you can rule out SMA, as the chances of her still being alive and doing as well as she in would be VERY VERY slim! I don't know much about the other things, but has anything about mito come up? If I remember right she has extreme fatigue at times which is huge with mito kids I know.

I totally feel your frustration and fears....it sucks.

HUGE HUGS!

Summer said...

Hi there,

I emailed you through a support group but I haven't been back in ages. I understand your worry and fear. Ataxia...unexplained is a scary thing because of the possibilites. Whenever my daughter is in a regression I get so sick with worry that it's the start of a downward slide.

She too has diminished reflexes.

Is your daughter weak?

Summer

Kyla said...

Thanks for stopping by my blog.

We went through a similar period of really TERRIFYING possibilities for KayTar, degenerative diagnoses, things that ended in...well, I still can't really stomach saying it. And here she is, growing and thriving...in a weird, KayTar kind of way, but thriving nonetheless. But those scary things we had to look in the eye? I'll never forget what that was like.

Big hugs to you all.