Health issues Fragile X premutation carriers can experience : Q&A with Dr Randi Hagerman Sept 2018

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  • Опубликовано: 17 окт 2024

Комментарии • 15

  • @caroldobbie
    @caroldobbie Год назад

    very interesting .thank you

  • @kategwynne4658
    @kategwynne4658 2 года назад

    This is so interesting to me as I have had some life coping problems and this finally gives me some clarity. So much more to research and learn. Thank you.

  • @wordswords2094
    @wordswords2094 22 дня назад

    Does the new medication work on the Premutation?

  • @LightofJehan
    @LightofJehan 8 месяцев назад

    im a carrier n my sisters. i have 2 children with fragile x & 1 with autism as well. This is AMAZING!!!!! i have all this. I need help too treat myself please i appreciate U

  • @triciasmith2305
    @triciasmith2305 2 года назад +2

    I just got my results back and I fall into the grey zone for fragile x carrier. I have a lot of mental and physical health issues but according to the “research” I am not at risk for health problems. My son is autistic and is either a premutation carrier himself or a grey zone carrier. We are waiting for his results. I don’t understand the research for grey zone carriers. Someone explain. I have “fibromyalgia” and have had low thyroid but no hashimotos

    • @fragile_x_australia
      @fragile_x_australia  2 года назад +2

      Hi Trish. We can put you in touch with a genetic counsellor who can explain that grey zone, also known as intermediate zone, for CGG repeats, is not considered to be premutation carrier status for Fragile X. support@fragilex.org.au

    • @triciasmith2305
      @triciasmith2305 2 года назад +1

      @Welcome To my Home my son is only 4. Nonverbal for the most part… He says “mom and dad” but that’s it… lots of echolalia. He is learning to use a speech device in therapy and uses a PECS book. We love him to death and are worried he may never speak in full sentences 😔 it’s hard but we love him either way and respect his needs.

    • @amareromano4713
      @amareromano4713 Год назад +2

      I have intermediate great zone and am GREATLY affected. My children also same genetics. Greatly affected. I feel sorry for all of the great zone people who are simply gas-lit because the in depth research hasn't been done for us. We are just as affected. ADHD, ASD, sensory issues, neuropsych outbursts, pain, joint hypermobility, on & on. So they clearly cannot honestly say we're not affected.

    • @amareromano4713
      @amareromano4713 Год назад +2

      Also add orthopedic problems.

    • @amareromano4713
      @amareromano4713 Год назад +1

      I'm so bad, orthopedic wont treat me until neuromuscular does testing. I already show intermediate grey zone. I am being aggressed on by my children. Life is hard and we only get gaslit.

  • @iseultmackinnon8197
    @iseultmackinnon8197 2 года назад

    Surely the curve in repeats and involvement is affected by what seems to be much less people with repeats over 100. It seems most carriers fall in the 70-100 range.