B
Reaction score
1

Profile posts Latest activity Postings About

  • I was tested for mutations to all the genes that can cause HSP and are recessive by Athena Labs. (My parents didn't have symptoms, so it was reasoned it wasn't dominant.) SPG7 is in charge of making the mitochondria that recycle misfolded proteins in your cells. The mutation I have hasn't been seen in anyone else tested so far, and my mom doesn't share it, so it is "de novo" - I'm a first generation mutant. Progression-wise, I am more of a PLSer than an HSPer, but I have the complications that HSP brings. So if another person shows up with my particular mutation and symptoms that match, they'll have to decide whether to label this a PLS or HSP causing mutation. And I never mind sharing.
    Thanks Bear1011,

    Yes, we're doing o.k., as it goes. The good thing about this (if there is a good thing) is, each day/minute becomes ever more precious. It allows one to realize that those silly little 'annoyances' we all have are not really worth getting upset about.

    You then are free to thoroughly enjoy each other and make the very most out of every moment...second even. You both realize that your days are numbered (we all know that anyway), and there is no room or time for fussing and fighting.

    Not to say it doesn't get challenging at times. But now, there is a reason to be extra thoughtful and considerate. Put it aside, deal with it, get on with life......and be happy while we're here!

    I think you could safely say that it enhances life, without (recreational) drugs. You will find a lot of help here. It has been a life saver for me....and I'm just a CALS. We all need help to get through this.

    Hang tough,
    Steve
    Hi Bear1011,

    Welcome. Sad to say that, but if you're here, we know why (usually). You sound 'legitimate' and sincere. We welcome those people to the 'club'. The ones who come here after a Google search, and ask things before they read anything......well, they can be annoying sometimes.

    Anyway, we all feel your pain here. And we all lean on each other. Sometimes venting, asking questions, or trying to lend our support.

    We're all here for each other. Everyone contributes in their own way. Some just read and don't post. That's o.k. too. Whatever works for you and helps you deal with this/these disease(s) is what we're all about.

    I see you getting quick and thoughtful responses already. That's the typical concern that is shown here, time after time......and it's an everyday thing, sadly.

    So, keep your chin up! Life is not over!!

    Hang tough,
    Steve
  • Loading…
  • Loading…
  • Loading…
Top