An interview with Fragile X premutation carrier Scott Lorigan

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  • เผยแพร่เมื่อ 2 ม.ค. 2025

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  • @peggycarrick5953
    @peggycarrick5953 ปีที่แล้ว

    I’m 66 years old and have a son 43 years old. He was diagnosed with fragile X at the age of 13. My grandmother , my father’s mother tested positive for fragile X when she was 82 years old. I understand this is passed from father to daughter, from daughter to son. Several diagnosed with fragile X in my family. I have tremors in my left hand, have problems with balance. So glad there is help out there. Thank you

  • @kategwynne4658
    @kategwynne4658 2 ปีที่แล้ว +3

    Thank you sharing this video. It's helping me to understand the progression of premutation carriers problems. I'm glad that Scott found some help in treatment of FXTAS.

  • @ImpGimp
    @ImpGimp 2 ปีที่แล้ว +2

    Great interview! I am a carrier of a premutation with "only" 65CGG Repeats. I am diagnosed with an essential tremor, but FXTAS was not ruled out for me in the future. 27, male.

    • @hypergirl9266
      @hypergirl9266 10 หลายเดือนก่อน

      Same 65 repeats premutation 32 female with tremors

    • @ImpGimp
      @ImpGimp 10 หลายเดือนก่อน

      @@hypergirl9266 Any other effects?

  • @rebeccas3884
    @rebeccas3884 2 ปีที่แล้ว

    Thank you for sharing the video! What is Scott’s CCG repeat?

  • @flxmkr
    @flxmkr 2 ปีที่แล้ว

    I wouldn’t mind signing up for studies, but I can’t even get a doctor to donate his signature. I have all symptoms right down to the rare fingerprints, but I can’t get tested...even though my insurance has already approved it and the local Children’s Hospital of KD has agreed to test me regardless of my quintarian age.

  • @sharontaylor662
    @sharontaylor662 2 ปีที่แล้ว

    I went to the registry address shown where is said page not found-error.

    • @UCDavisMINDInstitute
      @UCDavisMINDInstitute  2 ปีที่แล้ว

      Here is the link fragilex.org/our-research/projects/premutation-registry/

  • @sharontaylor662
    @sharontaylor662 2 ปีที่แล้ว

    I am a carrier with 180 repeats. My sister, her daughter and 2 grandsons are Full Mutation. I am very interested in participating in studies.

    • @UCDavisMINDInstitute
      @UCDavisMINDInstitute  2 ปีที่แล้ว

      Here are some current studies at the UC Davis MIND Institute health.ucdavis.edu/mindinstitute/research/fragilex/fragilex-current-research.html

  • @flxmkr
    @flxmkr 2 ปีที่แล้ว

    Does SHE ↗️ have Fragile-X?