Any insights on life with a rare Neurological condition (Complex Heriditary SpastIc Paraplegia)?

TheKernel74
TheKernel74 Online Community Member Posts: 3 Listener
edited June 2023 in Talk about your impairment
Hi-

I've had increasing leg/arm and (overwhelmingly) back pain for 20 or so years. Also punishing fatigue, intolerance of heat etc-essentially all the neuro goodies. Various MRI's have shown considerable Cerebellar atrophy, again getting progressively worse. I was misdiagnosed with ME/CFS in 2015, having been (finally) referred back to a Consultant I saw a fabulous Neurologist last week who is "95%" certain I have Complex Heriditary Spastic Paraplegia (Type 7).  I also have optic neuropathy, hearing loss, bladder issues-all the goodies I now understand can be associated with this condition. I am awaiting the results of a genetic test to confirm but it is almost a certainty (especially as my Father has many of the same symptoms and has again been repeatedly misdiagnosed).

So...

I am presently working and exercising as much as possible but it's getting more difficult. I'm new to this so really interested to hear about peoples experiences with the condition, and insights would be much appreciated.

All the best, Dan

Comments

  • L_Volunteer
    L_Volunteer Community Volunteer Adviser, Scope Member Posts: 7,922 Championing
    This sounds really difficult @TheKernel74. Not least as you have seen your father with many of the same systems and has again been repeatedly misdiagnosed   :(

    You are doing so well with your determination but I can hear it's getting more difficult. It is really important to listen to your own body and take care of yourself the best you can.

    This is especially important when there are no answers or wrong answers at best. I don't have this condition but I did want to respond to let you know I have heard you and I am here for you.

    Also wanted to wish you a warm welcome! If there's anything else we can do to support you please don't hesitate to let us know, even if that is just listening to you  :)  
  • wol139
    wol139 Online Community Member Posts: 22 Listener
    Thekernel.  I’m waiting on a proper diagnosis on hsp. My eyes are awful. What are yours like please. 👍
  • L_Volunteer
    L_Volunteer Community Volunteer Adviser, Scope Member Posts: 7,922 Championing
    Hopefully, you will access the diagnostic assessment soon @wol139 - especially as you are struggling with your eyes. Do you know when this might be at the moment?  :)
  • Cher_Alumni
    Cher_Alumni Scope alumni Posts: 5,714 Championing
    Hi @wol139

    I'm just checking in to see if there'd been any update on a new diagnosis yet? How are you getting on?

    I hope things are a little easier and it would be lovely to hear from you  :)

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