Fears and worries that come with having an undiagnosed/rare condition — Scope | Disability forum
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Fears and worries that come with having an undiagnosed/rare condition

I myself have many due to my condition slowly but constantly detreating over the years. Feel free to join the discussion and leave a comment below 

Comments

  • Ross_Scope
    Ross_Scope Posts: 6,690

    Scope community team

    Great thread @RacheleLeahSilvera

    I have an eye condition that is fairly rare, but not entirely. There aren't many people with the condition I have, but there are many people with similar conditions and I can empathise with the visually impaired community as a whole.

    However, my condition is diagnosed, so I was wondering if you could enlighten me on some of the fears and worries you refer to there? Of course only if you feel comfortable to share them.
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  • Cress
    Cress Member Posts: 1,012 Pioneering
    My son is now 37 he's never had a diagnosis...the best the specialists could come up with was he seemed to have a combination of several different neuro cutaneous syndromes.
    The not knowing was so frustrating at first..if I dont know what it is I dont know what sort of prognosis he would have and that would scare the hell out of me.
    And the endless appointments with different specialists when he was younger shed no further light.
    I remember asking his consultant paediatrician if he could explain a bit more about his condition as I felt stupid trying to explain it to people, he burst out laughing and said if he and all the various specialists were having trouble explaining it it was no wonder I was having trouble.
    And over time the need to know became less important, dealing with things as and when became the only thing that mattered 
    My sons consultant wrote an article in a medical journal about my son and one other boy he'd treated that was similar many years ago.
    I finally managed to get a copy of it from a dutch medical journal on genetics!
  • Cress
    Cress Member Posts: 1,012 Pioneering
    I also remember being told that although there was so little information out there as it was so rare they couldn't tell me if it was genetic but after going to see a genetic councillor he said no, he wasn't 100% sure but fairly certain it wouldnt be hereditary....then when I was three months pregnant with my second son another specialist decided it was something else entirely that was in fact genetic...so that was a worrying few months to say the least.
    I started to realise that each new specialist would come up with some new diagnosis simply to say "I found this new thing" and not to put much stock in it.
  • Cress
    Cress Member Posts: 1,012 Pioneering
    Sorry for going on lol!
  • RacheleLeahSilvera
    RacheleLeahSilvera Member Posts: 77 Courageous
    edited November 2020
    Great thread @RacheleLeahSilvera

    I have an eye condition that is fairly rare, but not entirely. There aren't many people with the condition I have, but there are many people with similar conditions and I can empathise with the visually impaired community as a whole.

    However, my condition is diagnosed, so I was wondering if you could enlighten me on some of the fears and worries you refer to there? Of course only if you feel comfortable to share them.
    @Ross_Scope
     Thanks and the fears and worries that I am referring to are those from individuals who have an undiagnosed or such a rare condition that it is impossible to know what the future could hold and due to this they are not able to do research on what they are dealing with so that causes the person to have unanswered questions.
  • RacheleLeahSilvera
    RacheleLeahSilvera Member Posts: 77 Courageous
    Cress said:
    My son is now 37 he's never had a diagnosis...the best the specialists could come up with was he seemed to have a combination of several different neuro cutaneous syndromes.
    The not knowing was so frustrating at first..if I dont know what it is I dont know what sort of prognosis he would have and that would scare the hell out of me.
    And the endless appointments with different specialists when he was younger shed no further light.
    I remember asking his consultant paediatrician if he could explain a bit more about his condition as I felt stupid trying to explain it to people, he burst out laughing and said if he and all the various specialists were having trouble explaining it it was no wonder I was having trouble.
    And over time the need to know became less important, dealing with things as and when became the only thing that mattered 
    My sons consultant wrote an article in a medical journal about my son and one other boy he'd treated that was similar many years ago.
    I finally managed to get a copy of it from a dutch medical journal on genetics!
    @Cress
    Thanks for sharing.
  • Eliz31abeth
    Eliz31abeth Member Posts: 34 Courageous
    Cress said:
    Sorry for going on lol!
    Dont be sorry at all
    My DH remains undiagnosed neurological for 5 years now ..a truly turbulent journey..
    Thanks for sharing
  • RacheleLeahSilvera
    RacheleLeahSilvera Member Posts: 77 Courageous
    Cress said:
    I also remember being told that although there was so little information out there as it was so rare they couldn't tell me if it was genetic but after going to see a genetic councillor he said no, he wasn't 100% sure but fairly certain it wouldnt be hereditary....then when I was three months pregnant with my second son another specialist decided it was something else entirely that was in fact genetic...so that was a worrying few months to say the least.
    I started to realise that each new specialist would come up with some new diagnosis simply to say "I found this new thing" and not to put much stock in it.
    Thanks for sharing.
  • RacheleLeahSilvera
    RacheleLeahSilvera Member Posts: 77 Courageous
    Cress said:
    Sorry for going on lol!
    No worries.

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