This topic contains 6 replies, has 5 voices, and was last updated by  * 1 week ago.

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  • #19287


    I’m new to SMA (though not really, I guess).  I have numerous other medical conditions that have some overlapping symptoms and all of my issues have been assumed to be something else all my life. But despite treatments and surgeries, which helped some things, they didn’t help others. Recently, my daughter’s neuro did WES on her and compared mine and found I have a homozygous SMN1 mutation (this was after 2 geneticists missed it because it wasn’t reported by the lab!) Apparently, it is a known but rare mutation and my presentation is mild though I am quickly losing the use of my legs. The neuro and my geneticist say it makes sense with my history. I’ve been waiting a while to get in with Dr Sumner at Hopkins for someone help manage it. I see her on the 17th.

    Anyway, I’m hopeful that I will be able to finally get some help and get out of my bedroom! Thanks for having me! 🙂


  • #19288
     DeAnn R 

    Welcome Robin! I bet it’s kind of a relief to have a diagnosis to explain what you’ve been dealing with. Although it has gotten easier to diagnose, it still can be tricky like it was with cases like yours. We have a great community here, so feel free to browse through the topics, chime in and ask questions anytime. It’s great having you here. Hugs!

    • #19295

      Thanks, DeAnn! Yes, it is really a relief to have some answers.

  • #19307
     Kevin Schaefer 

    Welcome Robin!

    Yeah, I imagine having some answers is a relief. Like DeAnn said, I think you’ll find this community to be really helpful and supportive. Feel free to ask us about Spinraza, living with SMA, or anything else. Thanks for joining!

  • #19323
     Ryan Berhar 

    Robin, good to hear from you. Let us know if you have any questions along the way, and we’ll do our best to answer them. Welcome aboard!

  • #19345
     Helen Baldwin 

    Hi, Robin, and welcome (you’re the first person I’ve welcomed because I had no clue how to do that. Now I have a little clue!)!

    I agree that having a diagnosis is a huge first step in determining what comes next. I’ve only been with BioNews a short time, but it’s already apparent that this is a tremendously helpful and supportive group! I feel confident that you’ll be really glad you’re here 🙂

    Sending positive beams that you’ll have an encouraging appointment on the 17th!



  • #19352

    Thanks so much, everyone!

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