/Awareness/Novella update/connective tissue

March 31, 2011

Hey all,

** I got the lasted edition of the local magazine a few days ago. I was

so excited to see the updates reference list! If you want to privatley send me a

mailing address and I wil get you a copy. The website to the magazine is

PCWSN.com

Also we received Novellas genetic testing results today and I am happy to say

they were all ''normal''. They tested for Marfan, louis-deets (sp?) and for

chromosome deletion/mutation. They are not sure what the next step is now as her

symptoms were closley related to those syndromes. The genetics doctors are going

to talk it over and come up with a new plan. My husband and I mentioned

EDS--Ehlers Danlos at the initial visit and they did not seem like testing for

that was easy or necessary at that time. But now that we did not have a positive

result I think we should be looking into EDS as there are 6 or more types..i

think? Anyone have experience with EDS and the diagnosing process.

**Novellas hips are stable. Her scoliosis is being re evaluated on april 18th.

She has been in a brace since jan. After 3 months of casting. She has PT and OT

weekly. She has really come along developmentally. Her 1st birthday is a week

away. Our goal was for her to be sitting by then and she is! So proud of her. I

am anxious for her scoli visit in a few weeks.

thanks for everything,

ali, Novellas mama

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