Genetic Research for Periodic Paralysis, Rare Disease | What, How, Why? Part 2 | Ask The Expert EP04

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  • Опубліковано 26 лис 2024

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  • @wahyusatriyaputra9417
    @wahyusatriyaputra9417 3 роки тому +1

    Please make sure this organization keep running, we know we are minorities but at least for next generation sake.
    I can't imagine next generation have disease like me!
    Jogging climbing and other hard work out like a dream for me, hopefully some medication can help ppk to exercise without having to experience paralysis afterward

    • @PeriodicParalysisAssociation
      @PeriodicParalysisAssociation  3 роки тому

      Wahyu, have you been genetically or clinically diagnosed? Having the correct diagnosis and treatment is important to your quality of life. Many patients are able to stay active with the right treatment and diet. We will continue to do our best to keep the research and awareness alive. But we can use your help by sharing this and our other videos so we can spread awareness and raise funds to continue our work.

    • @wahyusatriyaputra9417
      @wahyusatriyaputra9417 3 роки тому

      @@PeriodicParalysisAssociation clinical yes, i weekly take kalium600mg and spironolactone25mg
      If i feel episode i take 3x1ksr and spiro in morning. Then i do not paralyzed
      I hope i can sharing with you guys but im in Indonesia

  • @maulidam.398
    @maulidam.398 3 роки тому

    Hi, i'm glad to find you. I've been living with this almost 20years now, my first attack when i was 12years old but yah, since i was a kid, only parents and doctor know. Then it getting worse when i was in university, many times come to hospital until know the disease name. Fortunately i can manage my diet and avoid the trigger like white rice, heavy exercise, or sudden temperature changing. But yah.. sometimea the attack comes without notice. And i realize as we growing up, the attack duration may reduce a little bit unlike when we were young.

    • @PeriodicParalysisAssociation
      @PeriodicParalysisAssociation  3 роки тому +1

      Maulida, there are many episodes that you might find interesting. We are still creating new episodes so you may want to subscribe to our channel so that you don't miss any. You can also find a lot of information on our website periodicparalysis.org . If you sign up as a member you will receive emails to keep you update on what is happening in the association. You can also follow us on our FB page and IG. You will meet others like you on those pages. We are so happy to hear that you can manage your triggers, that is key. It was nice to meet you and we are glad you found us.

  • @tkimber4699
    @tkimber4699 3 роки тому

    Is there a place to find sodium gated channelopthy support to see what works for others? Also is there a place to be tested for channelopthies for family. I am already diagnosed and it was a bit expensive but we really didn’t know exactly what to look for. Is there a dedicated place for testing for Channelopathy specifically is what I’m asking. Love the videos. These are amazing. Wow.

    • @PeriodicParalysisAssociation
      @PeriodicParalysisAssociation  3 роки тому

      Tkimber, we do not endorse or recommend any groups, but there is Periodic Paralysis Genetics Resources FB group (under that exact title).
      For patients and families that live in the US, there is a no cost to you genetic testing program through StrongBridge. They will need a doctor to register them for it. Here is the link www.invitae.com/en/uncoveringperiodicparalysis/ .

    • @tkimber4699
      @tkimber4699 3 роки тому

      @@PeriodicParalysisAssociation THANK YOU so much! This is very helpful. I appreciate you.

  • @wendymatos3739
    @wendymatos3739 3 роки тому

    Hi, I’m 46 years old I been diagnosed with paramyotonia. Congenital When I was 45 through a EMG testing falling by a generic test . What medication are recommended for patients with this disorder,..? I’m taking DILATIN 30mg , phenytoin 100mg two time a day , and muscle relaxers, cyclobenzaprine 10mg is this what is usually recommended.? Why do you think it took that long for theses disorder to show on me .?

    • @PeriodicParalysisAssociation
      @PeriodicParalysisAssociation  3 роки тому

      Wendy, unfortunately we can not answer medical questions on our social media platforms. Please submit your question through our 'Ask an Expert' on our website. Here is a link periodicparalysis.org/ask-the-experts-disclaimer/ . They should be able to provide you the answers to your question. Thank you for watching.