Young man with suspected bulbar ALS – what on earth should I do now?

[Fran Finney]

Unfortunately, ALS or MND is a diagnosis of exclusion, and is an “umbrella” diagnoses for a variety of progressive degenerative neuromuscular diseases that present with a broad range of symptoms. It is a nasty diagnosis. As of now there is no known way to cure ALS/MND or even to decisively stop its progression. In addition to ruling out more diagnosable causes like tumors, MS, MG, stenosis, etc, there are a few things that do need to be present to receive an ALS/MND diagnosis, and those include an abnormal EMG. I don’t know that one EMG can rule out the diagnosis, but it is encouraging that your EMG came back normal. Many other factors have neurotoxicity and can cause progressive neurological changes – such as infections, exposure to toxins, tiny defects in your CNS blood brain barriers, etc.

It is good you are continuing to pursue your diagnosis – and hopefully will be able to pinpoint what is causing your progression of symptoms.

[Joan]

Please se a neuromuscular doctor and no one else
It’s important to see the correct specialist and it should not take a year. It is a diagnosis of exclusion

[Ellen Garber]

You really should get yourself to a hospital w an ALS center.

[Louis Savarese]

Hi Will,

So sorry you are going through this. I started experiencing my symptoms which manifested with difficulty annunciating certain words back in Dec. of 2019.  After a year of testing with different specialists I was diagnosed with Pseudo-Bulbar Palsy which became evident after a one hour MRI.  Fast forward to today my speech has worsened and I have weakness and wasting in my hands. There were specific blood tests to rule out myaesthia gravis which was the first thing suspected.  I can still drive and I avail myself to care at John Hopkins, Robert Woods Johnson and soon Duke University. At Duke there is a wonderful Doctor who has dedicated his life to ALS.  His name is Dr. Richard Bedlack and I recently watched a YouTube where he highlighted a drug that is not legal in the states, however it should be available in Europe.  It is called Clenbuterol.  It is a substance that professional sports figures get in trouble for using as it enhances strength, something we need in ALS.  Back in 2006 I believe, an Italian study albeit very small with only 16 people were given 10mg of Clenbuterol 3x a day for a week and then 20mg 3x a day for 6 months.  All participants improved in their strength and respiration.  Dr. Bedlack commenced to repeat the study in 2020 and it finished in Feb. of 2021.  Dr. Bedlack made a major adjustment to the Italian study by doubling the dose to 49mg 3x a day.  His study was comprised of 26 participants but over half dropped out due to gastro issues. On the positive side all that remained had improvements. Here is the link to the YouTube: https://youtu.be/1byZl9vldEo. Hopefully you can get clarity soon but if care is a year away you might want to plan a trip to the states.  Wishing you God’s speed and a return to full health.

Lou

[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

 

[doug-frazier]

Sorry to hear your bad news. I was recently officially diagnosed. The process took close to a year and it is a frustrating year because one is shocked and then left hanging for so long because it is such a difficult disease to diagnose.

There is an accepted best way to care for ALS patients and that is what some have already mentioned, an ALS clinic. I live 4 hours away from one and go there every 3 months. When I go, I stay in one room and they send in specialists, one at a time, from all the care areas (neurology, research, physical therapy, nutrition, speech, etc). It takes 1/2 a day but it is very helpful.

I searched online and found one in the UK. It is below.

I suggest you contact them right away. Unlike the average doctor that doesn’t see an ALS patient in their entire careers, ALS is their focus. You will be relieved to find people that both understand your situation and can provide the best care for every phase of the disease.

In my case, the diagnosis was not official until I had EMG tests every three months for close to a year. ALS is confirmed if they see a continual degradation of function, typical of ALS patients. They might suggest a similar course of tests for you so don’t be frustrated by it, it is just the way it is.

Contact the clinic and once you do, focus all your energy on the advice they give you, more so than what you may find online. Think of them as your personal group of ALS specialists. They are highly trained on this topic and can quickly answer any question you have. For example, if I find something online that sounds promising to me, I add that to my question list for the next visit or send them an email. Then I trust their answer. Use your experts, don’t try to be smarter than them. This is a very complex disease.

Good luck and hang in there.

<b>King’s College Hospital MND Care and Research Centre
Department of Neurology
MRC Centre for Neurodegeneration Research</b>
Institute of Psychiatry P 041
London SE5 8AF, UK
Tel: +44 20 7848 5192
Fax: +44 20 7848 5190
Neurologists: Professors Nigel Leigh, Christopher Shaw, Ammar Al-Chalabi, Dr Cathy Ellis
Clinic coordinator: Emma Willey
Consultant Nurse Specialist: Mary-Ann Ampong
[email protected]

[Dagmar]

What a thoughtful reply Doug. Thank you for sharing your thoughts and helpful links.

[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

[doug-frazier]

I know what you experienced is frustrating but let me briefly go through my experience in the hopes that it can get you up to speed faster than I did. I wasted a lot of time and precious energy early on.

I was showing symptoms for 6 – 10 years before I was diagnosed. I went to a neurologist every year only because of some neurosurgery I had decades ago. Every year, he would notice a symptom, maybe order an EMG which would come back normal, and then I would exercise more, etc. This was in Illinois, north of Chicago so we had great hospitals and near instant access to tests and specialists.

I then moved to Florida and went to Mayo Jacksonville (great place). After all the other tests came back negative, they started ordering EMGs. When they first told me we were going to do one test and then wait 3 months and do another one I was shocked. They would say things like “if it is ALS, these waiting periods don’t really affect our ability to treat the disease” or something like that. So, there was no downside to waiting? I didn’t understand.

Later I found out the reason for their approach and language. We come into the ALS world with our traditional medical mindset. Identify the disease, get treatments as fast as possible, exercise, eat well, etc. and hope a cure occurs (we see it on tv shows all the time). If not, get a second opinion, etc. The goal is trying things that may cure us. So we get determined, look up things on the web, etc.

What the doctors know that we don’t early on is that the traditional mindset doesn’t work with ALS. We patients just don’t know it yet.

The first ALS-like symptoms appeared in 1824 in medical literature and the first patient was diagnosed in 1869. Since then, not one of these patients has beaten the disease. This is bleak stuff. The doctors don’t like handing out this type of news. Who would?

When I was finally diagnosed, and went to my first ALS clinic session, they gave me a very straightforward review of what is out there in the ALS research universe. But the line that stuck with me the most was the fact that every “treatment option” they discussed, which we typically take to mean has some cure potential, has only proven successful in buying patients  few months or years. They have no potential to cure it. For every new drug they would talk about, I would ask “but what does the evidence after all these years show?” The answer was always that there is hope but so far it just buys us more time. My initial response was something like “if that is the case, why bother taking the drugs, dealing with the side effects all just to live a little longer? After I went through the process over many months and my brain settled into the reality of the ALS mindset, I saw the benefit to taking the drugs and I now take all that I can. It is just that early on we are looking for a cure so we are frustrated with options that don’t have that potential. Our natural inclination is to go out and try to find something that could work. The doctors know how our mind will evolve over time but are being professional and polite, knowing that every patient deals with these things differently.

The real hope we have is that we could be one of the people that gets a slow acting version and if we also do all the possible things they tell us to do at the ALS clinic visits, we could have more years to live and may even be able to get lucky and have a cure show up in the meantime. It is not the kind of hope we initially wanted but it is hope.

You will hear that it has never been a more hopeful time to be an ALS patient and this is 100% true because there is a tremendous amount of research going on now.

However, when I asked an ALS research doctor what are the odds that one of these could benefit me, he described the 3 phases of drug trials and how long they take and it became clear that I will have little chance of benefitting. We patients get excited about results from mouse trials but the doctors said only one out of 200 animal trials ever make it to be a drug. This is why you always want to ask your doctors before taking anything. A further downside for me is that I am 65 and because of the previous brain surgeries, I have almost no chance of being in a clinical trial. Still, even this doesn’t mean I can’t somehow get 10 years and get lucky.

You, however are very young. The longest living patients tend to be young like you. The most famous being Stephen Hawking who got it in his 20s and lived into his 70s I think.

So, I suggest taking a realist view of things. Understand the bleakness so you don’t waste your precious energy on needless things on the web that have almost no chance of working and focus your energy on what you can do that might payoff down the road. Make sure everything counts as much as possible. I might get a few extra months out of each drug I take but you might get a few years or decades. Join clinical trials if you want, under the advice of your ALS clinic. Make your diet the best it can be. Years ago, I always thought that if I ever got some terminal illness, I would eat all my favorite foods nonstop. Well, guess what, if I do that with ALS I won’t live as long so I am eating better than at any point in my life. I used to ask if I wanted a sweet, but now I say would I like a sweet or to live an extra month? Exercise as your ALS clinic instructs. Look to understand the facts of every new development, assume it will be like all the rest and not produce much but HOPE that it does. There is still lots of hope especially compared ALS patients that came before us.

When I first saw the phrase “100% fatal” it shocked me. A few months later, while listening to some stoic philosopher quotes on Youtube while taking a walk, it occurred to me that every human has a 100% fatal condition. It is called life. All of us will die. We just ignore this fact. ALS makes us think about it now. It is not a matter of if, it is only a matter of when for every person alive today. ALS just shoves this fact right into our face in a short period of time.

We all have to come to grips with the bleak aspect in our own way but the sooner we get to a mindset something like “assume the worst (the current reality of ALS continues) but hope for the best” (more years and maybe a cure), the better off we are. It is best to clearly understand reality and focus all your energies on the things your ALS clinic suggests. You will see them every few months eventually so they will be there with you the whole way so you don’t need to waste time trying to cure ALS on your on. We are not smarter than a global group of highly trained doctors, nurses and specialists that have been dealing with this for decades. Focus your web searches on writing better questions for your team on your next visit. If you see something that looks promising, ask them about it. Use them to help you. You won’t be alone in the fight. There are great resources like this site (Dagmar’s posts are very helpful and full of positivity) and other ALS associations.

One last thought. I have found that the biggest damage ALS does in the near term is to our thinking. We focus on the disease and ignore what it does to us mentally. We can find ourselves in downward spirals. Three suggestions in this regard:

1. In the early days I would hold back the crying. Now, if I feel it coming on, I welcome it and let it go as long as it wants. It sounds strange but I find there is an immediate release of the tensions and I feel better and can move on. So, use it as a tool, don’t fear it.

2. If you can do it safely, take walks (or rides in a wheelchair, etc.). When I walk I play quotes by famous philosophers. I suggest starting with the Stoic philosophers. They felt that you had to understand death completely before you can fully live your life. At Red Frost Motivation on Youtube, the video I suggest starting with is called “Be Unshakeable – Ultimate Stoic quotes.” I found this company’s production quality is better than most. Just listen as you walk and take in the views. Once you listen to this one which covers three philosophers (Marcus Aurelius, Seneca and Epictetus), I suggest trying their recordings on Confucius, Lao Tzu, Socates, Plato, and Aristotle. Then explore all you want. The best way is to put your favorites on a long playlist that will play in a loop. Having these great thinkers in your corner makes a big difference. Walking relieves tension and these great thinkers help replace that tension with great thoughts that help you deal with the mental aspect. Of course, this would not replace any professional advice you get from the clinic. Always trust them first.

3. ALS forces us to realize that time is our most precious resource (this is true for everyone but we just don’t realize it). Later, energy will become less available as well. So, don’t waste time. If you get down, take a walk (or ride). About 15 – 20 minutes into it science says we will feel a little better. Even in a wheelchair, just getting out can clear the mind.

Above all you are faced with a thinking challenge. Work daily on relieving tensions and plugging in great thoughts. ALS is what it is but we can change how we choose to look at it.

Best of luck to you.

Doug

[Amanda]

Doug,

That was one of the best post, and responses I have ever read!  This should have been an article in my opinion :).  There is so much good, no not good, GREAT advice and information in your response.  You are absolutely right about so many things. Two things really struck me

1 -What the doctors know that we don’t early on is that the traditional mindset doesn’t work with ALS. We patients just don’t know it yet.

2 –  I have found that the biggest damage ALS does in the near term is to our thinking. We focus on the disease and ignore what it does to us mentally. We can find ourselves in downward spirals.

Both of these statements made me think about how much power we really do have over how we approach our situation and or attitude.  Of course, after an ALS diagnosis it takes time to process the information and accept the condition, but then if we try to focus on what we can control and what we can do, we can maintain a better mental health which will impact our physical health.

Will – Would would encourage you to read this post several time because it is well worth the read. I’ve read it a couple of times and it takes time to resonate but it is filled with great information from someone who clearly has a gift for expressing ideas and sharing information.

Doug – Can I share this post on other formats or social media? I can leave your name off if you prefer.  I feel that everything posted here is confidential and should remain in our community unless permission is explicitly given.

Amanda

[doug-frazier]

Amanda:

Feel free to share it anywhere with my name attached. We are all in this together.

I tried to put together something that could be used with other new ALS patients in the future because I don’t have a lot of time to devote to these forums ( I still run an investment business with my son).

So, if you would watch for new posters and forward it along to them, that would be much preferred. Plus, you will have more of an ongoing relationship with them than I will be able to have.

Thanks for doing that. Reach out if you ever need my thoughts on something. I’ll be glad to help when I can.

Doug

[Amanda]

Thank you so much!!  You are awesome!!

Amanda

[steve-L]

Will,

This is the first time I’ve posted a message on this site but I was so taken by your plea for help that I couldn’t not respond. I’ve become involved with ALS after losing my father (age 89) in 2019.

I contacted one of my sources at ALSA (The ALS Association here in the U.S.) and she gave me the following information:

“The UK has a very strong MND (Motor Neuron Disease/ALS) Association – they actually are the VERY involved in the international symposiums.

Here is a link: https://www.mndassociation.org/

This provides information on their care centers/multidisciplinary clinics, their help/resource line – they could potentially advocate and help him get into a center. They have many services that could be helpful to him: https://www.mndassociation.org/support-and-information/ ”

Hope this helps.

Steve Landis

[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

[Amanda]

Hello Will, and thank you for posting your questions to the forums! You have generated a great deal of conversation with a lot of information that will likely help others in the future.
One thought comes to mind that I don’t think has been mentioned. Have you reached out to any research facilities in the UK? You maybe able to get seen by a specialist there because of your symptoms. Do you know if you have a family history of LS or MND? Oftentimes they will see a patient more quickly and have resources that other places do not have access to yet. It might be worth a shot to look into.
Amanda

[Carolyn Barry]

Will, I truly hope that you can soon find someone to help you with a diagnosis. For me, it took 3 hospitals, a 2 month inpatient stay, several neurologists and many tests and specialists. Finally, a neuromuscular specialist, while doing my 3rd EMG, and just a few minutes into the test, said she had a definite diagnosis for me. That was when I finally got the answer to all of my previous uncertain test results. I wish you the very best and that you are able to seek out a specialist you are comfortable with and whom you can trust.

Doug, your last post was incredible. I really appreciate all you said, and I do feel as you do, on all that you said. I also rely on my team at clinic. They are quite a stronghold for me and have been a wonderful support and a comfort. You have a gift of expression and your thoughts will help anyone who reads them. I even printed out your post so I’d have it to read again, when I most need a boost to my spirits 🙂 Thank you for taking the time to write this for all of us.

[doug-frazier]

Carolyn:

Thanks for the nice comments.

Glad to do it and hope it is helpful.

Doug

[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]

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.

[doug-frazier]

Seeing the ALS specialist sounds like a great plan.

My EMGs came back the same for some time as well and my weaknesses were on the same side as the EMGs. Mayo did EMGs on my entire left side each time which enabled them to spot the weaknesses earlier I think but even with this, it took a while. Bulbar was not an issue for me then (it is now). I don’t know how EMGs are used in relation to the bulbar involvement.

Good job on getting to see the specialist. He/she will be able to shed more light on things for you.

Remember that what you are dealing with is really complex and scary so be easy on yourself. You will get down, but realize it is normal so relax. Get exercise, eat as well as you can and work on staying as positive as possible. You will be exposed to a lot of negative information and I suggest you actively try to manage your intake of negative and positive information.

For example, I don’t do any ALS research near bedtime. I found that when I did, it messed with my sleep. So a few hours before bed it is only positive info. Plus, I try to focus on uplifting movies.

Work on coming up with your own set of rules that help you maintain as healthy a mindset as possible.

Good luck and hang in there. You are on the right track.

Doug

[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?

 

[doug-frazier]

Definitely not. I have no clue if it is likely that you have it. I don’t even have a gut feeling because I understand now how complex this disease and the diagnostic process is. I am not a doctor.

In my layman’s words, there are a bunch of motor neuron diseases (of which ALS is one) and then there are lots of other diseases and nerve issues that have similar symptoms, so what your doctors are faced with is a daunting task.

That is also the hopeful news at your stage in the process. The fact that there are so many other things it could be means there is significant hope that it could be something else.

The way I look at this is that the only thing that matters is what the ALS specialist doctors think after they have actually seen you, put you through all the necessary tests, eliminated all the other things, etc.

What I think or anyone else “feels” is irrelevant because we are not ALS specialist trained doctors that have actually seen you. Getting opinions from people like me on your diagnosis is meaningless.

With my earlier comments to you, I am just trying to provide a little help in understanding what can be a very frustrating and drawn out process. While it is frustrating, and early on I wondered why more more definitive answers weren’t forthcoming, I eventually learned that the only reason it is drawn out is the large number of things that these symptoms could be. It takes a while to sort it out.

So, getting to see the ALS specialist, as you have done, is exactly the right first step. But be patient with them now that you know it is a long process for good reasons.

The previous post was meant to let you know that, even during the diagnostic process when hope is high as it should be, you will find yourself discussing and considering all these potentially bleak scenarios. This can get us down. Try and put together proactively a daily process that puts potentially negative things in a certain section of the day and reserve near bedtime for positive things so you can sleep and retain your energy. Managing the mental side of things seems silly early on but I found it matters more than I thought.

Doug

[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

[doug-frazier]

If the specialist said something as direct as he/she doesn’t think you have ALS, that is amazingly hopeful news. They don’t usually use such clear language unless they are confident.

The fact that he/she doesn’t know what it is, is what you should expect at this point. The number of individual things it could be is large. Then when one considers that you may have a combination of things, the options multiply.

When he said you have no atrophy, that is also very hopeful. While we untrained people see an obvious muscle change and conclude that it must be atrophy because we might be focused on a terrible outcome like ALS, the doctor knows the actual medical definition of atrophy and the dozens of things that can cause similar muscle changes. So expert knowledge on a topic is more valuable than our hunches. I found this out repeatedly in my process. I was humbled over and over.

Toward the end it sounded like you might not be seeing the doctor again. I wasn’t clear on your intentions but I hope you don’t mean that you are going to stop working with the doctor to learn more about what it could be. There are many conditions where catching it early is the difference between surviving and not.

More knowledge is always your friend in situations like this.

Congratulations on the great news and good luck.

Doug

 

[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

[doug-frazier]

Sounds like a good plan.

One last thought. I used a few symptom checker apps. The best one by far that said that ALS was the highest percentage possibility given my symptoms was an app called “Ada.” I have an Apple phone.

You can enter a few symptoms and see what it says. Then add more and see what happens, etc.

It lists all the potential diseases and for each one it states something like “2 out of 10o patients with your symptoms had ____ disease.” You can see which disease it thinks is the highest probability.

Obviously, your specialist’s opinion matters most but I found it helped me in asking more informed questions.

Doug

[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

[doug-frazier]

Since the specialist has actually seen you and Ada hasn’t, it makes most sense to go with his/her view at this point. There are so many possibilities with similar symptoms.

Best of luck on your plan. Hang in there and be hopeful. Your situation at this point is much more hopeful than if the specialist was saying that it was likely you had it but a symptom checker app was saying you didn’t likely have it.

Doug

 

[Marcelyn K. Harness]

I am sorry to hear your news. We lost our age 37 daughter in 2021. I do not understand the medical payment landscape in the UK, but we found Dr. Jeffrey Rothstein at Johns Hopkins ALS Clinic (Baltimore, Maryland)  to be very competent in the area of ALS.  He diagnosed our daughter after about a 10 minute physical exam, after reviewing her medical record. i would suggest that you gather whatever funds may be necessary and go see him. In our experience, you can get in to see him in a few weeks, not years.  Sincerely, Marcie

[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

[Kathy stitz]

Marcie, I am so sorry about the loss of your daughter.   How old was she when she was diagnosed with ALS?

[Amanda]

Marcie,

I’m so sorry to hear about your daughter. I can only imagine your heartbreak. She was so young. It is very kind of you to share information on the forums and we appreciate your contributions.

Amanda