[Will]

Hi Carol,

Nice to meet you. From reading your posts, it seems like you’re in a similar boat to me: lots of worrying ALS-like signs with no other explanations offered and mimics ruled out, yet doctors say no ALS. While it’s obviously not the same as being 100% diagnosed, being in limbo, with ongoing, disruptive issues and the building fear (with very little information or support) is no fun. I hope you’re coping with this better than I am.

On the neurofilaments, as it happens I’ve just had a discussion with two ALS specialists about this. Apparently, nfls as a biomarker is very much in its infancy. There is data that on average in people with ALS nfls in CFS fluid and in blood are elevated above normal, often starkly so. However, nearly all neurological conditions (so including things like Parkinsons and even head injuries) result in elevated nlf levels, which means as far as testing for ALS goes it’s non-specific. Arguably, it could be useful in suggesting ALS if the other neurological conditions had been ruled out, but even here there are some issues, mainly that although nfl levels are on average elevated beyond normal in ALS, there is a very wide spread. Some people – the minority, but a significant minority – have ALS but have nfl levels that are within normal range. So, if you’re looking to use nfls to definitively rule out ALS then that can’t be done. Slow progressors, which I’m going to assume that you are given you have yet to be diagnosed, are also apt to have lower nfls, which is another issue: the very fact that you (and I) are not showing *obvious* clinical signs means we’re likely in the group whose nfls will be low. I.e. we would get a false negative.

To be clear, I’m not suggesting that nfls are useless – and that’s not what the specialists said to me – just that there’s still a way before they’re really ready to be used in clinics and even when they are they may not be as useful for diagnosing ALS as we hope. It seems most likely (and this is me talking here not the specialists) that nfls will end up being another weapon in the arsenal for helping to confirm ALS, after a clinical diagnosis has been made, rather than ruling it out.

I’m afraid I’m unsure how to get nfl testing in the US. If you’re in Europe then providing you can find a clinic that will sign the forms and take and transport (this often requires freezing) your blood samples then Svar Life Science, in Sweden, offer analysis for 160 euros. See here: NfL (Neurofilament light protein) – serum/CSF (svarlifescience.com). You’re best bet would be to speak to a neuromuscular or better yet ALS specialist about this test, get their thoughts on its utility and then see if they will arrange for you to get it.

Good luck, both for obtaining the tests and finding an answer to your medical problems more broadly,

Will

[Will]

Hi guys

I hope you’re all well. I’m just posting to provide an update on how my exams and so on are going. In short: I’ve now seen a neurologist who specialises in detecting ALS and he has said that he does not believe I have it (which is good!).

Unfortunately, he was unable to say what I do have, which is frustrating as my weakness, atrophy and so on is continuing and has now reached the point where my muscles are shaking violently and struggling to do simple exercise tasks – an example: my arms are so weak that they now buckle rather than breaking falls – a health risk.

I passed the neurological exam but felt a little frustrated that the muscles it seemed to test were not the ones where I am weakest. Mystifyingly, the neuro also said that I have no atrophy, despite the fact that I have picture evidence of clear changes in several muscles in my body.

So, unfortunately I still have my doubts and, of course, the problem of my worsening symptoms.

But with that said, I am going to try my best to put ALS out of my mind. Something is clearly wrong with me but it’s clear that it’s (a) either ALS presenting in a subtle way and being missed (due to some factors which I won’t bore you by listing), or (b) something idiopathic that nobody has heard of or has a label for, perhaps involving my connective tissue. Either way, I’m tired of spending so much time and money searching for answers that are not forthcoming. I’ve decided to live my life as best I can and will only be returning to the doctors if and when I am actually unable to live day-to-day life.

One final word before I sign off: thank you again to all of you who replied to this thread and my comments. I am incredibly grateful that you took the time and provided me with so much useful information – it means a lot and I won’t forget it. I hope that my symptoms, even if they keep worsening, will not develop to the point where the neuro reverses and I am diagnosed and return here. In the meantime, I shall be finishing my PhD (in a pointless humanities subject) before health permitting, retraining and going into medical research – the world needs more people researching these diseases.

All my thanks and best regards,

Will

[Will]

I think the above replies have about covered it: lack of simple biomarkers and paucity of expertise in primary care providers and even many specialists. I’m currently in the throes of a possible ALS diagnosis and have been shocked by the amount of mistakes I’ve seen GPs and even neurologists who aren’t ALS specialists make. Few seem to genuinely listen to the patient, so miss vital signs. This is compounded because knowledge of the disease is poor. One EMGer told me I couldn’t have ALS because ‘ALS doesn’t start like that’ (my first symptoms were sudden inability to burp normally and chronic yawning, followed shortly by facial twitching and swallowing difficulty). He clearly had not heard of bulbar-onset which can come on exactly in this way, seemingly thinking limb-onset was the only variety. The EMG is a faulty test, only as good as the provider. I can’t recall the precise article but I read recently that even in the hands of a skilled practitioner it was only something like 70% accurate in detecting ALS – but don’t quote me on that. In short: the diagnostic process is a mess and in dire need of reform. Discovery of biomarkers and better training for GPs and other doctors who aren’t ALS specialists would be a start.

[Will]

Hi guys,

Just wanted to update you with my situation as I’ve had a few changes. I haven’t yet managed to see an ALS specialist but I had a private EMG done the other day. Unfortunately, the test wasn’t as conclusive as I’d hoped. While the guy seemed authoritative, he only EMGed two points on my body – my hand and foot on my right side, albeit at several different locations and angles – completely ignoring the fact that the majority of my symptoms are in my bulbar area, neck, upper body, core and have a left side dominance. The two areas he EMGed are actually relatively normal. He found no evidence of ALS, or any myopathy for that matter – apparently the EMG results were totally normal and there were no significant changes from the readings on the same limbs taken a year ago. So, on the one hand, I’m reassured; on the other hand, lingering doubts remain. For example, I’ve read many stories from people that EMG CAN be done on the wrong side and often come back normal in the lower limbs with Bulbar AlS. Between that, and the fact that my symptoms are still steadily worsening, it’s difficult to fully put the issue to bed.

So, I’ve decided to book a private appointment with an ALS specialist in London who specialises in early diagnosis. Hopefully, he can rule ALS in or out as definitively as possible and finally give me some peace of mind when I see him in the next few weeks.

[Will]

Given Clenbuterol is – I believe – a high strength asthma medication, used, among other things, to widen the airways in horses, I think there’s a good chance it will positively affect your father’s FVC and breathing. Dr Bedlack’s study showed a 90% slowing of FVC decline (if I recall) in the participants that finished the course of 6 months. Wishing you and your dad all the best – Will

[Will]

Hi Doug,

Thanks again for (yet!) another thoughtful reply. I’ve tried Ada and depending on how many symptoms I put in and how I describe them I have a various 2 in 10 to 9 in 10 chance of ALS, with few alternatives being offered and none that are plausible – I clearly do not have Parkinson’s disease or syphilis for instance (lol). At this point, despite the specialist’s opinion, I really do believe that I have ALS. I can just see no other explanation for my symptoms. But the fact is they do not agree, and until an arm literally stops working entirely, or my speech becomes completely intelligible, I cannot see them even entertaining a diagnosis, which means there’s little for me to do but sit tight and wait until that threshold is met.

The only other thing I’ve contemplated is trying to find some way to begin taking Riluzole and a few other drugs that may slow progression. There are some pharmacies that appear to sell it online, albeit at a high cost without a prescription.

Thanks again and keep well – I’ll check back in again when there’s a major change,

Will

[Will]

Hi Marcie,

Thanks for sharing that information. I am sorry to hear about your daughter. Dr Rothstein sounds like a champ but unfortunately it’s just not feasible – financially and logistically – for me to travel to see him. There are some very good ALS specialists, who both diagnose and research the disease here in the UK, thankfully, though there are some hoops I have to jump through to see them, so my plan is to sit tight and see how things progress. If and when they significantly worsen, I shall set the ball rolling for a second opinion.

Thanks again and all best,

Will

[Will]

Hi Doug,

Thanks for the kind words. It was certainly good to have positive news from the specialist, although as I say, I continue to have progressing weakness and problems. On the atrophy I suppose I will just have to take their word. I am adamant that I have really quite severe wasting all over my body, particularly my arms, shoulders and tongue. But the neuro saw what he saw.

I would love to keep investigating this problem but unfortunately I have pretty much run out of money! My country (UK) does have a national health service, which I continue to be meshed up in, but it’s very, very slow and not much good for diagnosing and treating rare diseases. I am currently trying to get some blood tests done, such as nfl markers, which could help confirm whether this is a neurological or a muscular disease, primarily, and a muscle biopsy could be on the cards, too.

For now, however, I am just going to sit tight. It’s frustrating as my health continues to worsen, but if the neuro I saw a few weeks ago thought I had no signs of ALS and was normal strength and health, and he’s a bloomin specialist, then I can’t believe many other neuros are going to find any different. Whatever their threshold is for weakness, I don’t meet it, despite all the difficulties I am having.

Thanks again and I’ll be back here if and when anything changes,

Will

[Will]

Thanks for taking the time to reply, Carol. I’m sorry to hear you got the diagnosis and I hope you are keeping as well as possible. It’s scary that it took you so long to find an answer and that the EMG – which is often touted on some online forums as a ‘gold standard’ perfect test – didn’t detect it until the third go, and when, presumably, it was done by an ALS specialist. This, along with my continual symptoms and no other clear explanation, is why I’m still concerned about ALS in my case. It really seems as though EMG is not a reliable test and that especially in cases of bulbar-beginning ALS, it can often come back clean. A bit of me thinks ‘well, you’re 3 years on from first symptoms now, surely something would be showing up by now’, but I just don’t know (and this is compounded by how skimpy the EMGs I’ve had have been, only checking two or three areas and then only glancingly) – if I could have one wish it would be for someone to discover a near 100% accurate biomarker for diagnosing this disease. It would save so many poor PALS and people who are ALS-free but justly worry so much heartache.

I appreciate you may not feel comfortable saying, but should I take from you response that you do indeed think there is a real likelihood I may have ALS?

All best.

[Will]

Thanks Doug,

I appreciate the kind words. I am hanging in and trying to go about day to day life as well as possible while I wait for my specialist appointment. I’m reaching a point, however, where ALS or no ALS almost feels a bit irrelevant: I just want clarity.

From my experiences, and your own and many other stories I’ve read online, it seems that there is a big disconnect between how the ALS diagnostic process is portrayed on certain online forums (not ALS News Today, but others) and among lay people, and even some general neurologists, (as quite straightforward) and the reality. Particularly, there’s this narrative that a clean EMG signals definitely no ALS, that it’s really unlikely etc.

Yet dig around enough online and one can find plenty of examples where people had multiple clean EMGs, yet turned out to have ALS. There are also neurologists who say, and I’m paraphrasing from a peer-reviewed article here, that EMG’s are “by no means 100% accurate in detecting ALS”, that there is considerable leeway between operators, that it is a subjective test – I’ve seen it elsewhere suggested that an EMG performed by an ALS specialist will tend to be more useful than an EMG performed by a general neurologist too.

Thanks again for your compliments and support. I obviously remain hopeful that I do not have ALS, but mitigating this is the simple fact that I have many symptoms which raise red flags with the most common mimics ruled out. I have literally trawled everything on the internet at this point and the only other thing I’ve found that could perhaps apply in my case is an idiosyncratic connective tissue condition, which would have been triggered by a medication I took shortly before my symptoms began. But even that doesn’t explain the speech difficulties and apparent tongue atrophy that has emerged in the past few months…

It’s just a bloody difficult and confusing process – getting diagnosed – not helped by a lot of misinformation online.

All best.

EDIT: I should add that I guess from your replies you think that there is a really good chance I do have ALS?

 

[Will]

Thanks Louise,

I’m sorry to hear about your diagnosis but hope you’re keeping well.

Dr Bedlack, that name is familiar to me! I’ve watched quite a few of his presentations about ALS, and ALS reversals. I must say I was very disappointed to find out he’s based in America. He seems like an incredible guy and someone I would have loved to be treated by. His positivity is infectious.

As it happens, I have also done some research into Clenbuterol and if I am diagnosed will certainly consider trying it. I’m fortunate, in a way, in somuchas I have asthma, for which Clenbuterol is occasionally prescribed, so may be able to get my hands on it, but unfortunately drugs like that are really very tightly controlled here so it’s no guarantee.

I’ll keep a weather eye and will update this thread once I have more information and/or a diagnosis. Whether what I have turns out to be ALS or not I suspect there are plenty of other people with confusing symptoms who would benefit from seeing how things turned out.

Thanks again and all best,

Will

 

[Will]

Thanks Steve,

I greatly appreciate you taking the time to reply. I am sorry to hear about your father.

The MND Association sounds like a great port of call – I’ll give them a bell.

Thank you again for getting in touch and please pass on my thanks to your friend too.

Best regards,

Will

[Will]

Hi Doug,

I’m sorry to hear about your recent diagnosis but hope you are doing as well as can be expected. Thanks for your reply. It’s really helpful and I appreciate you taking the time.

So, unfortunately, these specialist MND/ALS hubs in the UK require a referral from a neurologist, so it seems like I’m going to have to wait for my local neurology appointment, see what that turns up and then go from there. Hopefully they have some answers.

But I shall keep in mind the specialist clinics. My plan is to get the EMG and assessment with the local neuro and then if there is any realistic chance of it being ALS in their eyes, which surely there will be, push for a referral to a clinic.

I share your frustration at the diagnostic process. To some extent, of course, it clearly can’t really be helped: there just isn’t a one-shop test to diagnose this. But on the other hand, it’s also clear that many GPs have very poor knowledge of neurological conditions, leading to delays in referrals, that even local, general neuros are not especially great at identifying ALS, especially in  its early stages, and that general organisational slackness mars every stage of the process. It’s sad that it takes on average a year to be diagnosed (I’m sorry to hear you had that experience), not least because that time could have been used trying treatments, and planning last days.

One thing that’s become clear to me since I got sick is the importance of autonomy, not only for physical health but for mental health too. That has been one of the hardest things: seeing all my friends and peers get a grip on their lives, rise or fall by their own merits, while I’m stuck in a Kafkaesque maze of doctors.

I no longer feel like the captain of my soul; paradoxically, even a positive diagnosis would give this back to me since at least I could make informed decisions.

Thanks again and sending you all good wishes,

Will