Announcement

Collapse
No announcement yet.

Familial Spastic Paraplegia - Newby

Collapse
X
 
  • Filter
  • Time
  • Show
Clear All
new posts

  • #16
    Hi whity,

    Sorry, can't help with sore shoulders, I don't have them after sleeping, but god help me in the morning if I've slept on my back. It must take an hour before the lower back pain subsides enough for me to move around freely.

    It could be as HSP is progresing, it's showing up in the way you sleep, ie you could be sleeping the wrong way now.

    Ian

    Comment


    • #17
      I have hereditary spastic paraplegia, and I had to go to several different doctors for a diagnosis. Most of them thought I had MS or muscular distrophy, so I had to have a lot of different tests done: spinal taps, nerve shocking tests, MRI's, blood tests, ect. I was diagnosed in late 2001 and was able to walk on my own with a walker up until December 2006. That's when I had to start using a manual wheelchair full-time due to the disorder progressing more.

      As for using catheters affecting sexuality and the ability to conceive, I don't think it would affect it at all. I use catheters through a mitrofanoff stoma 6 times a day and none of the doctor's I go to told me I couldn't have kids. I have 2 daughters, who both have HSP, and its no big deal.

      Go to www.sp-foundation.org This site has TONS of info on HSP and also have ways you can help find a cure for it.

      Jessie

      Comment


      • #18
        Hi there,

        Its very minor but Ive always had a problem where I am unable to raise my leg to what I would consider a normal height and this is now hindering me general daily activities such as climbing steps.
        By any chance would you know of any exercises that I could conduct which would heighten this abaility?

        Thanx

        Andrew

        Comment


        • #19
          Originally posted by whity
          Hi there,

          Its very minor but Ive always had a problem where I am unable to raise my leg to what I would consider a normal height and this is now hindering me general daily activities such as climbing steps.
          By any chance would you know of any exercises that I could conduct which would heighten this abaility?

          Thanx

          Andrew
          Andrew it sounds like you need to be evaluated again by a physiatrist. You can probably get some PT/OT time out of it to learn what you're doing to wake up with sore shoulders and what are the best ways to both strengthen and to preserve your leg function. Most disabilities do quite well by exercising in a therapy pool.
          Courage doesn't always roar. Sometimes courage is the quiet voice at the end of the day saying, "I will try again tomorrow."

          Disclaimer: Answers, suggestions, and/or comments do not constitute medical advice expressed or implied and are based solely on my experiences as a SCI patient. Please consult your attending physician for medical advise and treatment. In the event of a medical emergency please call 911.

          Comment


          • #20
            Hi,
            is anyone with HSP is very tired all the time?
            I am always tired and need lots of sleep.
            I am not officially diagnosed, (in a process of running tests). it looks like my sister has it. all my symptoms are similar to when you have HSP., but they dont say much about lack of energy and difficulty to concentrate.
            My daughter is 11 year old- very active child. what if she gets it.
            I am frustrated and terrified.

            Liza
            Last edited by slavela; 03-11-2008, 06:33 PM.

            Comment


            • #21
              Originally posted by slavela
              Hi,
              is anyone with HSP is very tired all the time?
              I am always tired and need lots of sleep.
              I am not officially diagnosed, (in a process of running tests). it looks like my sister has it. all my symptoms are similar to when you have HSP., but they dont say much about lack of energy and difficulty to concentrate.
              My daughter is 11 year old- very active child. what if she gets it.
              I am frustrated and terrified.

              Liza
              Hi Liza,

              I'm not tired all the time, but tire very easily.

              Which tests are you having done? To the best of my knowledge, there's only one HSP specific test, and even that is inconclusive for most people, the rest of are diagnosed via a process of elimination.

              You might want to join/have a look at this HSP support group http://health.groups.yahoo.com/group/HSP_friends/ there's lots of useful info, both technical and from fellow sufferers there.

              Ian

              Comment


              • #22
                Hi Ian,
                Thank you for answering me.
                So far I have done Lumbar puncture , I think they are testing me for ms. Lumbar puncture didnt show MS, I am waiting for MRI.
                To see a specialist and run tests take a long time in Canada.
                You said there's only one HSP specific test, what is it? Can MRI show something?
                Liza
                --

                Comment


                • #23
                  Originally posted by slavela
                  Hi,
                  is anyone with HSP is very tired all the time?
                  I am always tired and need lots of sleep.
                  I am not officially diagnosed, (in a process of running tests). it looks like my sister has it. all my symptoms are similar to when you have HSP., but they dont say much about lack of energy and difficulty to concentrate.
                  My daughter is 11 year old- very active child. what if she gets it.
                  I am frustrated and terrified.

                  Liza
                  I used to be very tired with HSP, but my doctor put me on a pill called Amantadine, which is normally used for respiratory infections and movement disorders in people with MS or Parkinson's Disease. It is also used for MS patients for fatigue. It works good to help keep me awake during the daytime.
                  Also, just because you have HSP doesn't mean you can't be active. I am way more active now than I was before I got diagnosed. Since I had to start using a manual wheelchair, I have more energy and am very active. I wheel around town a lot, exercise a lot at the local YMCA, and participate in wheelchair sports.

                  Jessie

                  Comment


                  • #24
                    Originally posted by slavela
                    Hi Ian,
                    Thank you for answering me.
                    So far I have done Lumbar puncture , I think they are testing me for ms. Lumbar puncture didnt show MS, I am waiting for MRI.
                    To see a specialist and run tests take a long time in Canada.
                    You said there's only one HSP specific test, what is it? Can MRI show something?
                    Liza
                    --
                    Hi Liza,

                    In my case the lumbar puncture only showed the presence of certain enzymes/proteins, which the doc in charge of me at the time said they usually indicate MS or cancer. He was certain both could be ruled out, but he was at a loss to explain why they were there.

                    Several MRI scans have shown nothing amiss with me.

                    The genetic test for HSP is usually only performed to confirm the diagnosis, and it can only confirm which form of HSP, and even then it's only successful in a very small number of cases, throw in the cost of having it done means most people don't. I was offered the test (free under the UK National Health Service) but the amount of travelling involved, coupled with the slim chance of success led me to decline the offer.
                    That and the fact that I'm the only person, as far as I can tell anyway, to have HSP in my family (this is called recessive HSP) means the test was almost certainly going to show nothing. For people who do have the test done, and those who's results do show HSP, it doesn't alter any treatments other than what is available atm to everyone with suspected/confirmed HSP.

                    Have a look at this overview of HSP http://www.acnr.co.uk/JF07/ACNR_JF07_neurogenetics.pdf

                    Ian

                    Comment


                    • #25
                      Hi Liza,

                      This site give a lot of good info on HSP, inc a 'movie' http://musjle.bravehost.com/Flash/HSP.swf It's a bit out of date now, but it still warrants looking at.

                      Ian

                      Comment


                      • #26
                        Hsp

                        Hello,

                        I am new to this site. I was given a dx of HSP back in 2003, age 22. It's been a long and winding road. In a nutshell- on my 3rd baclofen pump, everything was perfect, and now I can't walk again. Still doing testing, but have ruled out most of our options (of finding the culprit). I have a phenomenal team of Dr's at the U of M.

                        I had the genetic testing done that you mentioned in your posting. If you have one of the dominantly inherited gene mutations, there's at least a 40% chance that it will show a positive result. In your case, in HSP with no other prior family history (known as sporadic), the chance is alot smaller. I had the opportunity of mailing them (Athena Diagnostics- Complete Eval for SP) a blood sample, so I didn't have to travel. My results were back last July. Had a really hard time accepting it, but in the long run it's beneficial to help plan (new house w/no stairs for ex). Definitely was not beneficial for my health insurance premium! Pre-existing conditions are no fun.

                        I also have the luxury of having a pedigree that goes back 4 generations tracing the inheritance, which really comes in handy. A study was done years ago on my family, and is published in a med journal. As you probably know, the age of onset/rate of progression can very greatly, even within one family. I had sudden onset, which is practically unheard of- everyone in my family was gradual, and older too. They ALL had predominantly weakness, starting out with dragging toes, etc. I have always been very spastic. This condition really is perplexing, and unpredictable.

                        I welcome any thoughts/comments from other HSP'ers, especially those w/pump issues. My pump quit being effective over a matter of 15 minutes. Something is definitely strange here!

                        Make it a great day,

                        Serendipity
                        </IMG>
                        *Serendipity*

                        Comment


                        • #27
                          Passing to children

                          My son's Diagnosis was changed today from cerebal palsy to HSP... That was after telling the Dr that my son is the 4th person with CP (which is not hereditary) in my family.... It's a 50/50 chance... My grandfather was orginally diagnosis with MS, he died when I was 13.... My Uncle was recently diagnosised with FSP and 3 of us had been diagnosised with CP until today.... The first known generation, there is 5 only 1 with HSP.... the next generation is probably 2 (each family having 3 kids, and I say probably cause my cousin is diagnosised as CP) So far I am only the person to pass it on to my child - I only have 1 so far.... I have the same concern about passing it on now that I know what I am looking at..... My cousin, son and myself were all born with the disease....

                          Comment


                          • #28
                            Hi All,

                            Here's another useful link giving a pretty good definition/explanation of HSP, without it being too heavy a read

                            http://www.hsp-info.eu/index.php?opt...d=25&Itemid=38

                            Ian

                            Comment


                            • #29
                              update

                              I'm hoping to update the movie this month ..... new computer. We're already 5 over what Dr Fink (U of Mi) thought there were in the genetic versions count back in the 90's.

                              Comment


                              • #30
                                Originally posted by whity View Post
                                Hi there,

                                Its very minor but Ive always had a problem where I am unable to raise my leg to what I would consider a normal height and this is now hindering me general daily activities such as climbing steps.
                                By any chance would you know of any exercises that I could conduct which would heighten this abaility?

                                Thanx

                                Andrew

                                I know this is old but the issue still remains -tackling stairs. I have no problems going up but I go down -backwards. It looks funny but it's really easy that way.

                                Comment

                                Working...
                                X