Anyone with Hereditary Spastic Paraplegia?

Rebecca_de_Winter
Rebecca_de_Winter Online Community Member Posts: 24 Contributor
edited October 2021 in Rare, invisible, and undiagnosed conditions
Hi, I just wondered if anyone suffers from late onset Hereditary Spastic Paraplegia? My husband was fit and well until age 55 when he suddenly developed drop foot and other problems with walking. Our local hospital could find nothing wrong ?. So we got a second opinion at another hospital where they actually looked at his MRI scan and told him he had the spinal cord of an 80 year old. He was diagnosed after many tests with HSP although they still have not been able to determine which gene is involved. It now affects both legs, one arm and both eyes.

Thanks for reading. ?

@Rebecca_de_Winter
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Comments

  • Antonia_Alumni
    Antonia_Alumni Scope alumni Posts: 1,764 Pioneering
    Hi @Rebecca_de_Winter how are you doing today? Thank you for sharing this with us.

    Some of our members have mentioned HSP before; @kimdyer18 @Sealegs , hopefully more members will be able to share their experiences with you soon :)

    There's some information on Hereditary spastic paraplegia on the NHS website.
  • kimdyer18
    kimdyer18 Online Community Member Posts: 52 Connected
    hi guys what would u like to know 

  • Rebecca_de_Winter
    Rebecca_de_Winter Online Community Member Posts: 24 Contributor
    Hi @kimdyer18

    i just wondered what sort of help you get from Drs/hospitals if any. Since my husband was diagnosed, the genetics clinic has closed as the professor and her team have left. He sees his neurologist once a year. He gets no other input and sadly I can see a great deterioration in him.

    @Rebecca_de_Winter
  • kimdyer18
    kimdyer18 Online Community Member Posts: 52 Connected
    I get physio weekly for stretches i walk with crutches use wheel medication for spasms there is hsp face book are very helpful 
  • Rebecca_de_Winter
    Rebecca_de_Winter Online Community Member Posts: 24 Contributor
    @kimdyer18
    Thanks for this Kim, he has an appointment with his neurologist in June so I am going to get him to ask about weekly physio. He tried Baclofen for spasms but it caused fits. The only thing that seems to help is vaping CBD oil. He walks, very badly with two stick but I think his days are numbered unless something is done and he will need to use his wheelchair ☹️.

    @Rebecca_de_Winter
  • kimdyer18
    kimdyer18 Online Community Member Posts: 52 Connected
    I only use wheelchair if out all day I'm hoping to go halogen I'm having a lot of spasms I only got diagnosed last year I also wear ankle braces to stop me falling 
  • Rebecca_de_Winter
    Rebecca_de_Winter Online Community Member Posts: 24 Contributor
    My husband got diagnosed about 4/5 years ago, after being told there was nothing wrong with him!
    It all started with drop foot when we were out walking and progressed from there.
    It now affects both legs, his right arm and both eyes. He only has sight in one eye after a retinal detachment and macular hole.
    Ten years ago he could run up three flights of stairs and was perfectly fit. It has taken a lot of getting used to.
  • kimdyer18
    kimdyer18 Online Community Member Posts: 52 Connected
    tell me about I used to walk everywhere with my dog symptoms started after my daughter was born she now 3 x
  • Rebecca_de_Winter
    Rebecca_de_Winter Online Community Member Posts: 24 Contributor
    Oh dear, you could have really done without that at any time, but with a little one to look after, you have my sympathies. 
  • kimdyer18
    kimdyer18 Online Community Member Posts: 52 Connected
    thanks she helps me out if I'm on fall she really gd don't think I can never work again 
  • Rebecca_de_Winter
    Rebecca_de_Winter Online Community Member Posts: 24 Contributor
    Ah that is good that she can help.
    I know my husband misses work but there was no way he could carry on and I am disabled too so we just try to help each other.
    John Lennon was right when he wrote “Life is what happens to you when you’re busy making other plans.”
  • kimdyer18
    kimdyer18 Online Community Member Posts: 52 Connected
    my husband help me too he get frustrated he wishes he could take it from me for day least I get to see my girl growing up 
  • Rebecca_de_Winter
    Rebecca_de_Winter Online Community Member Posts: 24 Contributor
    Yes it must be very difficult for you to cope with. At least with my husband it is late onset and so far it doesn’t seem to have affected any of our children. 
    The geneticists weren’t able to identify the gene, so the most we know is that both parents must have carried a defective gene to have passed this on.
  • pollyanna1052
    pollyanna1052 Online Community Member Posts: 2,015 Championing
    Aha! HSP! It isn`t often you see this and no-one...even health professionals have heard of it!

    I am 66 now and was fit and healthy up to the age of 45. I started tripping, stumbling and falling. It took a while for me to realise something was wrong. I saw a neuro and he suspected PPMS...my symptoms were very MS like. After being wrongly diagnosed with that for several years, I was told I had HSP!  My world uppended all over again! You`ll know what that feels like, I`m sure!

    I had a genetic test, which came back as highly unlikely! So my current diagnosis is;

    idiopathic spastic paraparesis.
     I get no input nor support from the hospital now and just have to live with it!

    I am a full time wheelchair user, and need hoisting for every transfer and have a supra pubic catheter.

    Nice to meet you! xx
  • pollyanna1052
    pollyanna1052 Online Community Member Posts: 2,015 Championing
    Just updating you all. I have an appointment at The Walton Centre in Liverpool. It is a neuroscience centre of excellence.
    I am not expecting a miracle...just a firm diagnosis would be good.
    6th Nov is my appointment. Watch this space....
    Best wishes to each xxx
  • Rebecca_de_Winter
    Rebecca_de_Winter Online Community Member Posts: 24 Contributor
    Good luck with your appointment, I do hope you get a firm diagnosis and hopefully some treatment. We’ll be thinking of you on 6th November.
  • pollyanna1052
    pollyanna1052 Online Community Member Posts: 2,015 Championing
    My appointment has been changed to 19th November xx
  • Rebecca_de_Winter
    Rebecca_de_Winter Online Community Member Posts: 24 Contributor
    I’m sorry to hear your appointment has been put back. Good luck for the 19th.
    My husband got his first appointment at the neuro gym this week. No exercises, just put a cushion between his knees when sitting and try to stop his knees collapsing towards each other when walking. He also has an appointment in January at the Pain Clinic so hopefully they may be able to help him as they have been brilliant with me.
  • pollyanna1052
    pollyanna1052 Online Community Member Posts: 2,015 Championing
    \January? Flippin` `eck...that`s a long time to wait......I have heard how hard it is to get in though. xx
  • Chloe_Alumni
    Chloe_Alumni Scope alumni Posts: 10,506 Championing
    I really hope the pain clinic is helpful for your husband @Rebecca_de_Winter. :)

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