Falone
Member
- Joined
- Feb 13, 2021
- Messages
- 10
- Reason
- Learn about ALS
- Diagnosis
- 00/0000
- Country
- UK
- State
- UK
Hi there,
I hope you are well and thanks again for those of you who take the time out of your days to answer questions on here - it's very kind of you. Because of the nature of this question I'd be grateful if only those who are not current caregivers or PALS would answer, since I do not want to take the time of anyone currently battling this disease. Again, thank you for the kind service you provide here.
If you've followed any of my past threads you'll know that I have been battling ALS-like symptoms for 3-4 years now, mimics have all been ruled out and I continue to decline yet I am struggling to get a diagnosis. There has been a lot of skepticism aired about my condition here in the past. All I can say is that I am not making up or exaggerating my symptoms: I really am suffering from progressive muscle weakness, atrophy and loss of function accompanied by fasciculations in pretty much every limb (including my sphincter!) which is bad enough to prevent me playing sport, exercise and perform several day to day movements. However, at present I am still able to walk and albeit with difficulty carry out day to day life. I suspect this is because my age: I am currently 26 and have had ALS-like symptoms since I was 22 (and perhaps 20, depending on how you define them), which is obviously far below the average for this disease and would predict slower progression.
I am desperate to get a diagnosis (whether it be ALS or something else) since my condition and the uncertainty is taking a huge toll on my wellbeing. Getting clarity, however, is proving a massive struggle. I would really appreciate some advice on how to get a reliable assessment for ALS since so far I have been bitterly disappointed by the expertise of the physicians I have seen. When my symptoms were really mild very few doctors would credit I had a real let alone serious condition. As my symptoms have visibly worsened I am now taken more seriously but it is proving difficult to find a physician whose competence I have faith in. The clinical exam performed by neurologists seems to vary wildly and be very subjective. The first neurologist I saw - a local neuro with some neuromuscular specialism - detected brisk reflexes, weakness, tremors and fasciculations but felt that at that time it did meet the threshhold for an ALS diagnosis. He was adamant that something was indeed wrong (and indeed said my history of symptoms as I described it made him think ALS) but that it did not meet his expectations of ALS. Since then I have worsened and several GPs I have seen have found clinical weakness on examination, which tallies with my experience with certain tasks and movements becoming more difficult, but a diagnosis is still not forthcoming. While they raised concerns about ALS (independently without my prompting) and have worked with me to rule out mimics, a recent EMG (January this year) came back clean, which frustrated a diagnosis. Most recently, I saw an ALS specialist in London but this proved the worst experience of all. He appeared to type me as an 'anxiety case' early on, paid little attention to my clinical history and his clinical exam gave me no confidence - his conclusion that I was perfectly healthy and that my issues were just the result of natural aging simply did not wash with me. I have never known anyone to have the problems I'm having because of aging (I'm 26 now 80 for goodness sake!). Since then things have continued to worsen.
I appreciate that it is easy to look at my age and difficulties with physicians and assume that I am not as ill as I say I am. I also appreciate that to somebody in late stage ALS my issues probably seem very trivial. But they are not to me. Since becoming ill in 2016 following some rare side effects from a medication (likely DNA and connective tissue damage) I have been going steadily downhill with absolutely no help or support. Despite spending massive amounts of time and thousands of pounds (all of my savings pretty much) seeing doctors and specialists of all stripes I still have no answers, only a large list of knockouts. I cannot continue to live life like this. At this point I really do not care if it is ALS I just want to have an answer so I can move on. The physical limitations I suffer from and the stress of continued decline with what feels like abandonment from the medical community is frying my head. My quality of life is poor and not sustainable for me long term.
Does anyone here have any tips for obtaining a really reliable assessment for ALS that can rule it in or out with certainty (or as good as)? Does anyone here know any doctors in the UK who are able to reliably diagnose this?
Finally, what can I do to speed up ALS - if that is indeed what it is - and so make the diagnosis easier for the physicians? As I understand there is no hope for truly effective treatment in the near future so I have no worries about losing time. My number one goal is to get this ruled in or ruled out as soon as possible, so I can move on with my life in whatever direction things may go.
Thank you again for taking the time to read this.
Falone
I hope you are well and thanks again for those of you who take the time out of your days to answer questions on here - it's very kind of you. Because of the nature of this question I'd be grateful if only those who are not current caregivers or PALS would answer, since I do not want to take the time of anyone currently battling this disease. Again, thank you for the kind service you provide here.
If you've followed any of my past threads you'll know that I have been battling ALS-like symptoms for 3-4 years now, mimics have all been ruled out and I continue to decline yet I am struggling to get a diagnosis. There has been a lot of skepticism aired about my condition here in the past. All I can say is that I am not making up or exaggerating my symptoms: I really am suffering from progressive muscle weakness, atrophy and loss of function accompanied by fasciculations in pretty much every limb (including my sphincter!) which is bad enough to prevent me playing sport, exercise and perform several day to day movements. However, at present I am still able to walk and albeit with difficulty carry out day to day life. I suspect this is because my age: I am currently 26 and have had ALS-like symptoms since I was 22 (and perhaps 20, depending on how you define them), which is obviously far below the average for this disease and would predict slower progression.
I am desperate to get a diagnosis (whether it be ALS or something else) since my condition and the uncertainty is taking a huge toll on my wellbeing. Getting clarity, however, is proving a massive struggle. I would really appreciate some advice on how to get a reliable assessment for ALS since so far I have been bitterly disappointed by the expertise of the physicians I have seen. When my symptoms were really mild very few doctors would credit I had a real let alone serious condition. As my symptoms have visibly worsened I am now taken more seriously but it is proving difficult to find a physician whose competence I have faith in. The clinical exam performed by neurologists seems to vary wildly and be very subjective. The first neurologist I saw - a local neuro with some neuromuscular specialism - detected brisk reflexes, weakness, tremors and fasciculations but felt that at that time it did meet the threshhold for an ALS diagnosis. He was adamant that something was indeed wrong (and indeed said my history of symptoms as I described it made him think ALS) but that it did not meet his expectations of ALS. Since then I have worsened and several GPs I have seen have found clinical weakness on examination, which tallies with my experience with certain tasks and movements becoming more difficult, but a diagnosis is still not forthcoming. While they raised concerns about ALS (independently without my prompting) and have worked with me to rule out mimics, a recent EMG (January this year) came back clean, which frustrated a diagnosis. Most recently, I saw an ALS specialist in London but this proved the worst experience of all. He appeared to type me as an 'anxiety case' early on, paid little attention to my clinical history and his clinical exam gave me no confidence - his conclusion that I was perfectly healthy and that my issues were just the result of natural aging simply did not wash with me. I have never known anyone to have the problems I'm having because of aging (I'm 26 now 80 for goodness sake!). Since then things have continued to worsen.
I appreciate that it is easy to look at my age and difficulties with physicians and assume that I am not as ill as I say I am. I also appreciate that to somebody in late stage ALS my issues probably seem very trivial. But they are not to me. Since becoming ill in 2016 following some rare side effects from a medication (likely DNA and connective tissue damage) I have been going steadily downhill with absolutely no help or support. Despite spending massive amounts of time and thousands of pounds (all of my savings pretty much) seeing doctors and specialists of all stripes I still have no answers, only a large list of knockouts. I cannot continue to live life like this. At this point I really do not care if it is ALS I just want to have an answer so I can move on. The physical limitations I suffer from and the stress of continued decline with what feels like abandonment from the medical community is frying my head. My quality of life is poor and not sustainable for me long term.
Does anyone here have any tips for obtaining a really reliable assessment for ALS that can rule it in or out with certainty (or as good as)? Does anyone here know any doctors in the UK who are able to reliably diagnose this?
Finally, what can I do to speed up ALS - if that is indeed what it is - and so make the diagnosis easier for the physicians? As I understand there is no hope for truly effective treatment in the near future so I have no worries about losing time. My number one goal is to get this ruled in or ruled out as soon as possible, so I can move on with my life in whatever direction things may go.
Thank you again for taking the time to read this.
Falone