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    • #18082
      Grant Lile
      Participant

      So I was diagnosed with Freidriech’s Ataxia (FA) from genetic testing and have just gone along with. But lately, I have been finding some of the symptoms I supposed have been getting I have not. This questions the results I got from the genetic testing. Did they get it wrong? I had my parents tested, and neither one have the gene that is supposed to have come together and passed to me. I have an older brother and he is completely fine.

      Does anyone have any suggestions for me in seeking a second diagnosis?

    • #18089
      Isabelle Desmarais
      Participant

      I will talk about my case. I don’t know to which symptoms you refer but in my case, I am 52 and I don’t have still develop some symptoms. On the other hand, the fact that your parents don’t have the problematic gene is certainly strange. What does your neurologist say about it? Try to consult another neurologist to get a second opinion.  Good luck.

    • #18090
      Christina D
      Participant

      I agree with Isabelle. Try to find a neurologist studying FA by calling NAF, MDA, FARA.

    • #18092
      Grant Lile
      Participant

      Thanks Isabella and Christina D.  My neurologist has suggested genetic testing with someone else or be a lab rat again and go to the Mayo Clinic where I will probed and prodded by them.

    • #18102
      Terence O’Hanlon
      Participant

      Whoever said your parents “don’t have” the gene that causes FA isn’t quite right. Everyone has it. In FAers it’s faulty but it’s there. In non-FAers it functions properly… and it’s there.

      Check with a neurologist or a genetic counsellor. Make sure you understand what they tell you, even if that means asking them to explain it over and over in different ways.

      Be aware also that FA is a very individualised condition. The list of symptoms you were told about is an aggregate of symptoms that have presented in many other FAers. The list of actual symptoms that present in any specific FAer may vary considerably, as can the speed of progression of the condition.

      • #18109
        Grant Lile
        Participant

        Thanks for the reply Terence. I’m in contact with my neurologist and genetic practitioner to get some clarification with my case. I’m just concerned at how quickly my body has deteriorated since being diagnosed.

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