Announcement

Collapse
No announcement yet.

Looking for information

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

  • PaulaF
    replied
    It is not well-understood what causes MND. Genetics are known to be associated with 10% or so of cases. As understanding of genetics increases, more genetic triggers will probably be found and this percentage is likely to rise, although it might not be of much use per se, as currently there is not a lot that can be done to counter these genetic mutations.
    However, when symptoms precede neurogenic depletion (e.g. when EMG tests do not detect denervation until long after MND symptoms begin), this suggests that the MND in those cases is likely to be a secondary complication of another pre-existing condition, and genetic sequencing tests might pick up that other condition which might be treatable in some way. If progression of the primary cause is halted or delayed, it might lead to a better MND prognosis.

    Leave a comment:


  • Zak2022
    replied
    Johnny5,

    I am really sorry to hear you had to go through such a lengthy diagnostic process but I do appreciate you taking the time to respond to my post.
    I managed to find some information earlier today regarding neurofilaments but it seems there is still a lot of work going on with the testing. Nothing relating to testing on NHS websites other than CFS tests. I am however going to discuss with my GP at my next appointment to see if this is something we can look into.

    Thanks,
    Zak


    Leave a comment:


  • Johnny5
    replied
    If you are diagnosed w/MND in only 1 EMG then you are lucky.

    I ended up with my 8th EMG before they confirmed my diagnosis. They also did a brain MRI w/contrast, multiple (12 or more) blood tests, urine tests, and clinical exams every 3-6 months for 7 years before they quit poking and prodding me. Recently, studies show that neurofilaments can be detected in the bloodstream and may be a reliable biomarker for MND (results are still out though). Blood tests generally can be used to rule in or out other conditions.

    Leave a comment:


  • Zak2022
    replied
    Graham,

    In all my research the only info I have found towards blood tests are CK test which only shows in up in a percentage of MND patients but can also be seen with many other conditions. Blood tests to rule out other conditions and then gene testing which only shows if you have some form of mutation. From my understanding gene testing doesn't guarantee you will be affected by the disease only you have the chance.

    There was a study showing blood testing patterns in people with MND supported by the MNDa in 2020 but I cannot find any current info on it.

    Would you happen to have links to web pages with info regarding this new test?

    Leave a comment:


  • Graham
    replied
    It is brand new. Do your research.

    Leave a comment:


  • Zak2022
    replied
    Graham,

    I didn't know there was a test that could diagnose MND.

    I have had a lot of blood tests over the past year and not all have been fully explained but genome testing has never been mentioned. Is this something you need to request or would it be part of standard GP blood testing.

    When I eventually get an appointment for a consultant I will ask the question also.

    Thanks for the info

    Leave a comment:


  • Graham
    replied
    Have you asked your consultant for a MND blood test Zak?

    Have you had a whole genome test that looks for all neurological conditions and potential gene spelling mistakes?

    Leave a comment:


  • PaulaF
    replied
    Originally posted by Zak2022 View Post
    Paula,

    If you don't mind answering, when your atrophy started was there any weakness involved? A lot of the MND information I have found states that atrophy happens only after weakness

    Regarding the therapies I have reduced the frequency of my chiro but am still visiting a Physio to see if this improves anything.

    Supplements I am not sure about as there is a much conflicting information about these are there are my symptoms. If there are any you can suggest I would be willing to look into them and discuss with my doctor
    Yes, the weakness seemed to come with the atrophy.
    There are supplements for which some evidence suggests some benefit to some people (in terms of function or delayed progression).
    You could look up turmeric, melatonin, creatine, l-serine and alpha lipoic acid.
    There is little profit to be made from them, so they are under-researched. Don't be surprised if your doctor is dismissive of all of them.

    Leave a comment:


  • Zak2022
    replied
    DeeH - I would also like to thank you for sharing your experience in such detail. It has given me a deeper understanding of symptoms/progression even though it doesn't exactly match what is happening with me personally.

    Leave a comment:


  • TinyLady
    replied
    DeeH - thank you for sharing your husbands story. I found it very interesting to read and as someone who has found it hard to be listened to and diagnosed, I see similarities. In hindsight I really shouldn't have ignored my symptoms as long as I did xx

    Leave a comment:


  • DeeH
    replied
    Zak2022

    The symptoms were dismissed by my husband all through 2019, he was only 56, he put it down to under or over training. He started to drop weights at the gym and couldn't grip bags. On one memorable occasion when I wasn't there he couldn't grip his bank card in time at the ATM and it got swallowed.
    I pestered him to go to the doctor but neither of us initially thought that it was more than slowing down due to age even though he was so fit.

    His walking got slower and more hesitant. I used to have to trot to keep up and then suddenly I was faster.

    On looking back he broke over time a few computer chairs plus the sofa and in the morning he would stand up and then sit suddenly down on the bed, we thought it was hypotension (sudden low Blood Pressure on standing). I kept saying go to the doctor. He started coughing after eating nuts and seeds, he stopped drinking moderating and went tee total. As his balance became off, he developed a rounded shoulder posture (this is classic Fail Arm Type MND)
    The GP intitially thought the grip was arthitisis.

    This was all over an 18 month period. But definately all through 2019, I was busy with a my parents and an intensive course but nothing would make hime see a GP, as all the doctors were concerned about was his high blood pressure, which was herediary and he refused to make medication for.

    Once the obvious stuff was ruled out and the arthritis was dismissed as a cause, neurological was on the table.

    Time line
    From GP January 2020
    Bloods obvious tests etc.
    March 2020 seen by Rheumatologist thought it was a hand condition called Viking Disease
    July 2020 seen by Rheumatologist again, the guy literally went white at the visable change in both hands, denied everything he said in march, that an op would fix it.
    Seen for EMG that month, got cancelation for Neurologist on 27 July 2020, MND confirmed.
    Genetic test showed no DNA markers

    Moved to a different area for a ground floor place. Seen a different Neurologist in March 2021, said Fail Arm Type on sight.

    I can't fault the health care much 6 months is not bad at all for a diagnosis but the changes were extremely visable. If the weakness had only been on one side I would have thought he had had a stroke but both hands/arms uniformly getting weaker was the puzzling thing to me, at that time.

    I am putting this out there for the general information of the group.

    In the hopes that it helps someone


    Donna


    Carer of Husband diagnosed MND in July 2020.

    Leave a comment:


  • Zak2022
    replied
    DeeH,

    Thank you so much for your post.

    I am overwhelmed by the kindness I have been shown in this forum, I cannot even begin to comprehend what you guys are dealing with but the fact you are willing to share and help a complete stranger is amazing.

    I appreciate your advice regarding exercise and I am somewhat following this at the moment but at times pushed the muscle to complete failure in an attempt to "test" if it is getting worse than before. Will make sure I resist that urge going forward

    You stated your husbands symptoms were dismissed to begin with, was that from PCP or specialists? I have found my GP to be excellent and fully supportive to find the reason behind this but have mixed experiences with the Neurologists I have spoken too.

    Leave a comment:


  • DeeH
    replied
    Zak2022

    I don't wish to comment on what your tests mean or that.

    Just to say from observing my husband's path with MND of the Fail Arm type diagnosed in July 2020. Everyone is very different as well.

    I would focus on your range of motion as well at strength. Balance stuff, Thomas' balance with amazing all his life.

    Husband experienced weakness in muscles, trips, weakness of grip, continue of tightness of muscles around neck and head.
    We were regularly doing yoga a few times a week and the his abilities were getting much poorer.

    It was the curling of his fingers which eventually drove him to the GP.

    So most of 2019, symptoms dismissed as age, over or under training at 56.

    But the difference from December 2019 to July 2020, was so marked as if speeded up.

    I am the researcher in the family and getting advice from people living with the disease is good.

    But there is alot of difference in presentation ie, arms, legs or voice/swallowing.

    I would advise to enjoy life whilst keeping an eye on fitness both strength and range of motion, health and weight loss. etc

    My husband went to the gym very regular and exercised since the age of ten and had a great diet. The progression was unstoppable.

    Only advice from professionals in don't exhaust yourself.

    So make of this as you wish. Just a personal observation and lived experience.

    Due to COVID we couldn't have a holiday and enjoy when Thomas was on his feet. So the main thing I would do if I could do back is take more day trips and make memories. Enjoy yourself, have cake and a laugh because no one knows what the future brings.

    Leave a comment:


  • Zak2022
    replied
    Paula,

    Thank you so much for sharing your background with me and I am sorry to hear of your drawn out struggle.

    I relate to your feelings regarding searching for information and sometimes feel that I should just accept what is happening and try and get on with life, the only thing that drives me on is the fact that although some of the potential causes of my symptoms do not have a cure, there are things that can be done to preserve and extend quality of life and I would be letting myself and my family down if I didn't keep looking and trying. hope for the best, plan for the worst

    If you don't mind answering, when your atrophy started was there any weakness involved? A lot of the MND information I have found states that atrophy happens only after weakness

    Regarding the therapies I have reduced the frequency of my chiro but am still visiting a Physio to see if this improves anything.

    Supplements I am not sure about as there is a much conflicting information about these are there are my symptoms. If there are any you can suggest I would be willing to look into them and discuss with my doctor

    Again I appreciate the input so far from all users

    Leave a comment:


  • PaulaF
    replied
    Zak, I've had a 7 year search for answers, being told for 6 of those years that everything was 'normal'.
    This is my information. If it conflicts with anything, it is probably because we are talking about neurological diseases with different causes,.
    1. The muscle wasting started 3 years before an EMG test that came out as 'normal'.
    2. A second EMG after 3 further years showed widespread denervation damage by then, and led to a diagnosis of 'probable atypical MND'.
    3. No fasciculations (yet?).
    4. Mild disc bulging in the neck without compression, but with some thinning of the spinal cord in the same area.
    5. After 7 years of it, the 'probable MND' has damaged some muscle fibres (type 2), but had no effect on others (type 1).
    ... Although this doesn't seem to be a common set of MND symptoms at all!
    As the consultant said - everyone is different.
    Sometimes, I find the search for information drives me crazy, and wonder whether to just make the most of things and take each day as it comes.
    I wouldn't necessarily give up on all therapies/supplements though. They might not provide a miracle cure, but there is some evidence that some of them benefit some people.

    Leave a comment:

Working...
X