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former OT from Phoenix
Last Post 31 Mar 2014 01:03 AM by Retta Beery. 5 Replies.
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BethUser is Offline
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28 Mar 2014 11:34 PM
    Hi Retta,

    I don't know if you remember me but I worked with Noah and Alexis years ago when they were babies (toddlers)/preschoolers. I have followed your story and am so thrilled at how well they are doing.

    My 17 year old has become very ill in the since January. She has become basically home bound with constant head jerking/tremors which are becoming progressively worse. We have been to 2 neurologists and have gone through a gamut of testing, all of which has come back negative, except for left vestibular disorder. We saw a movement specialist today who brought up the possibility of dopa responsive dystonia and it made me remember you. If you have any words of wisdom or advice on how to help Hailey I would be so thankful.

    It has been heartbreaking to see her go from perfectly normal at the beginning of January to nearly bedridden by the end of March.

    Sincerely,

    Beth Dickson
    kiwigirlUser is Offline
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    29 Mar 2014 02:42 AM
    Hi Beth

    My name is Sarah from New Zealand. I have Dopa responsive Dystonia. I am new to the group and just wanted to say hi and let you know I am thinking of you and your daughter. This website Retta has here is very supportive for me. Ill keep you in my prayers that they get to the right diagnosis for Hailey.
    Beth DicksonUser is Offline
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    30 Mar 2014 02:49 PM
    Thank you!
    Retta BeeryUser is Offline
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    31 Mar 2014 12:20 AM
    Hi Beth,
    Of course I remember you! I'm so sorry to hear about Hailey. Could you tell me what tests she has undergone so far? I have been recommending many people have full exome sequencing done if they have exhausted other testing. The neurologist could order targeted sequencing, but they may only look at a few of the known Dystonia mutations. I work with several labs and organizations that are able to do full exome sequencing, if you are interested in pursuing.
    I'm praying for you, Beth, and for Hailey.
    Retta
    Beth DicksonUser is Offline
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    31 Mar 2014 12:38 AM
    Thank you Retta. Hailey has had an MRI without contrast, a stationary EEG, an ambulatory EEG, lots of lab work (blood and stool). We have a new neurologist that we really like who got her into see a movement specialist. We saw him Friday and he ordered a movement study and a dopa responsive test.

    She went to Nepal last summer for a month. She had frequent colds and "flus" all fall. She stared vomiting every day on 1/10. She was diagnosed with left vestibular dysfunction. The current symptoms started around mid February withan occasional mile head jerk. It has progressed to almost constant head and should tremoring. The vomiting stopped about the time the tremors started.

    She has had to drop out of school and is basically abed ridden. She can be up for short a periods of time but fatigues very easily which makes everything worse. I am so open to any suggestions that might help her.

    Thank you, thank you!
    Retta BeeryUser is Offline
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    31 Mar 2014 01:03 AM
    I'm curious what the dopa responsive test is? I'm assuming that would be targeted sequencing of one of the known mutations. The labs and organizations I work with would require a neurologist to be willing to share Hailey's information and receive the findings of full exome sequencing. If you would like to ask her neurologist if he/she is open to that, then I could do an email introduction for you. Let me know your thoughts, questions, etc.
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