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3 Comments

  1. Pujeet Jha
    March 4, 2021 @ 6:42 am

    Hey Darcy,
    I also have the symptoms of EA2 but in genetic testing, the results were inconclusive (Uncertain Significance). All of my other tests have come back normal as well. Would you be willing to share the contact info of your neurologist who was able to determine your cerebellar atrophy from the MRI. Here in India all doctors I have gone to have been unable to form a diagnosis and my MRIs appear normal.
    regards
    Pujeet Jha

  2. Mark Desa
    March 4, 2021 @ 9:27 am

    Hi Pujeet. I saw your comment. Darcy likely won’t see this, so I’ll copy it and your email address and send it to her. I hope this helps.

    Mark

  3. Summer Kaplan
    April 22, 2021 @ 6:03 pm

    Wow, my daughter has ataxia. In 2004 & 2006 she had MRI and it was “normal”. Growing up she had episodes where her ataxia worsened and she’d regress then come out of it. She had genetic testing in 2006 and the EA2 came back as a missense. On repeating it was decided it was an artifact. She was diagnosed with benign paroxysmal torticollis and then paroxysmal vertigo and then cyclical vomiting and migraines. Her episodes as got older decreased and her less severe. At least we figured out triggers and could avoid as well as having zofran to stop vomiting. At 16 she’s started have episodes of dizziness and sometimes nausea. She was eventually referred back to neurology and got another MRI. This time the neurologist noted some minor atrophy in her cerebullem which looking back to 2006 was also observed and now about the same. Now she’s being referred back to genetics. I was just struck by the similarities in your stories. Thank you for sharing

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