[Mark S]

Als forums and dx

I want to thank people here for really helping me out by chatting and reading your stories.

Most forums across all patient sites are disease specific, like medical clinics, which has advantages because of specific knowledge and experience. The disadvantage is it is often not that easy. Either people are undiagnosed, have multiple diseases, or odd presentations. People in the “possible” club are often attacked on forums where they are going because they are desperate. That’s very unfortunate because Neurological illness, every one overlaps to some degree with every other one.

This forum is extremely kind to people trying to figure out what doctors obviously have been unable to do.

This really helps ALS patients and everyone else. If doctors had the time or inclination to study forums they could greatly improve care.

Over the last two to three years people keep asking me, why do you think you have ALS. It’s not diagnosed. The answer is I didn’t, but it looks like it, all the mimics were ruled out and I was referred to multiple ALS specialists until they ruled out ALS as well. It was hard to understand because 1) my brain isn’t working well, 2) it cannot be nothing as you lose your ability to live.

So update:

Originally I thought my illness was autoimmune. The neurologists thought it was until it was “ruled out” that only left MND or mental illness, and no one thought about psych until my bulbar signs were deemed not Neuro.

What never made sense to me was the relapsing quality and history of stroke like episodes when younger. I brought this up all the time but Drs did not consider life long issues only current. The autoimmune markers were too “non-specific” or unrelated.

Wrapping this up, I am certain the mimic they ignored was autoimmune encephalopathy with anti thyroid antibodies. It is even more rare, at least by # diagnosed than MND. The patient stories are horrifying far worse than my terrible history.

The first doctor I sent my records to is one of the experts in the field but he declined. I contacted Mayo Clinic yesterday and am going to harass them until they see me. If not, mexico has good pharmacies.

Thanks again, the ALS community is unique and I am glad I got to know some people a little. If I can ever work again I will definitely try to help out.

 

You are all in my prayers.

Mark

 

[Mark S]

When I started having cramps, fasciculations and weakness, that is not what I was complaining about to doctors.  It was the exhaustion, I would fatigue within minutes of any effort, I couldn’t think, over the last months I was sleeping 2–3 hours during the day and all night.  I was not awake for the last 2 years.

I finally got a new PCP that listens  and I talked her into starting me on Provigil.  It was life altering in 3 hours. I am finally alive again and sleep cycle is normalized.  My mind is as sharp as ever.

My muscle cramping is worse, but I am doing more.  I, and no one knows what happened to my brain or why it worked so well, but I will take it. I don’t think this applies to everyone, but I know many are fatigued and not sleeping well.  Sometimes it is not needing sleep aids but more wakefulness so that you can get better sleep.

There are some small studies on this and maybe worth talking to doctors about if you are sleeping all day.

[Mark S]

I’m curious if anyone has had a doctor mention abnormalities on brain MRI as part of diagnosis or follow-up.

You would have heard something like (T2 FlAIR hyperintensities).

There is a literature on neuro-radiology and motor neuron disease but it doesn’t seem to be utilized.

 

 

[Mark S]

https://investors.biogen.com/news-releases/news-release-details/topline-results-tofersen-phase-3-study-and-its-open-label

[Mark S]

Carol, my possible ALS, 5 EMGs later, has been down graded or is it upgraded to, we have no idea. My problems are almost entirely upper motor neuron. PLS dx guidelines state you have to wait 4 years with no LMN progression.  I have LMN symptoms but no EMG evidence.

On EMGs, they are good at detecting nerve damage, which I don’t have. So no ALS.  At my last visit I asked because I didn’t understand how a muscle with atrophy and weakness could be “normal”.  I was told you can have atrophy and weakness and reduced motor unit activation but that is not diagnostic without denervation.

So I go back in 6 months and probably have another EMG.

 

 

 

[Mark S]

Sorry for your health and frustrations. I am in same situation. I gave up on answers and shifted focus to finding doctors that listen and try to help when there are currently no good answers.  Symptoms can be treated without certain dx, it’s hard to believe but Drs can do that.  It only took me 3 years Thankfully I found people and I am doing some better.

Theracurmin helped my digestion but that is all.

 

[Mark S]

So sorry Leslie,

I don’t think there is a correct answer here.  Often anxiety is positively effected with information, often not knowing is worse that knowing a negative thing.

Other times it is not helpful.

I never had anxiety but developed it over the past year. I am working on it with a therapist. I think I’m ok without medication but would absolutely get pharmaceutical treatment if it worsens.

In my view bodily symptoms for whatever reason are made worse by stress responses. It’s the way bodies work.

I hope you find good people, and talk with them.

 

[Mark S]

Just to be clear.

I know people have strong opinions on ALSA and others, mine are complex which is why I generalized my comment and should have said I try to stay out of discussions about all the organizations.

I do try to share what I think is good clinically.

 

 

[Mark S]

Agreed in that I have little good to say about disease awareness organizations and their basically taking commission on fundraising.

However, so many people including doctors have a terrible time with early stage symptoms and testing.  This is a pretty good tool to say, uh, I should be followed closely.

[Mark S]

For me everything is ruled out. The only other theory some have is it is psychological, Functional Neurologic Disorder, which is a legitimate concern but not reasonable in my case.

I like what ALS Assoc did here with the screening tool in trying to speed up dx.  https://www.als.org/thinkals/thinkals-tool

 

 

 

 

[Mark S]

Individuals, patients, family and providers all have a large range of desires and biases.   Medicine has tried to deal with this by creating first anatomical system specialists, like neurology and then sub specialist by disease.  While there are some disease specific more integrated clinics, they are rare.

Each clinic and hospital has its own unique biases.  My first hospital was dominated by very conservative Catholics and it showed with respect to EOL care.  My efforts to improve diversity of spiritual counseling didn’t go well.

Then there is the legal aspect. Also availability of LTC, home care.

Most people are constrained by what is available locally, and most find the dominant systems.  I always encourage people to look for options if what they are doing doesn’t feel right.  Talk to social workers, keep back up plans and relationships outside the primary group in case you need a change.

I know we don’t have the energy for this and it would be nice if everything worked well, but the reality is medical relationships can be extremely difficult.

Everyone needs to understand that people generally don’t refer outside of their system.  You get in trouble if you do. As a result the options presented to you are not the full range.

It will always require you or family do your own research.

 

 

 

 

 

[Mark S]

It’s my experience that Hospice and Palliative care professionals are the best of the medical community.

Services are still misunderstood and underutilized. I recently saw people on Twitter jumping on an ALS chapter for hosting talk on end of life planning.

It makes me upset that there is a segment becoming more angry because they feel there is a miracle drug and it is being vindictively withheld.

When I worked with Palliative care, I saw often this all or nothing treat everything or give up (mostly cancer patients) stigma when there is evidence quality of life and care leads to better longevity outcomes.

Trying to live as best you can and following your needs is never giving up.

It’s not even quiting care. It is choosing different care.

Be well

[Mark S]

I don’t like being active for 30 minutes after  breakfast, much less a LP.

Is that part of protocol?

[Mark S]

That is a lot of lumbar punctures.  The old protocol was to lay flat for a while and limited movement for a day or so.  It was thought to reduce risk of CSF leak, or low pressure headaches.

Meta research shows that advice doesn’t have any data behind it.

That said, my advice is take it easy, try to rest (don’t be quick to get off the table)  and don’t ignore headache if you have one after.  Call the team and let them know.

CSF leaks do happen and sometimes need to be treated with what’s called a blood patch.  They inject a little blood to create clot around LP site.

 

[Mark S]

When I was a treating people, especially when treating a person’s head/neck I would know it was working because I would get a single tear or two.  An empathetic sign of release.  I never really cried even when with a dying person.  I felt I had to maintain that equipoise and it was not hard.   I really only wept when my mother died in my hands.

Again I tried to explain this.   When a person tells you something is new, it is new and relevant.

Obviously, those with more advanced illness know this and maybe it helps to get validation you are not alone, but what is really important is that those at the beginning are cared for appropriately.

 

[Mark S]

Thanks.

I do think there are meds that help, but Drs won’t treat symptoms. And I worry care will get even more delayed if symptoms are less.

I was taking zanaflex for muscle spasms but didn’t like the side effects. They wouldn’t try baclofen after I quit.

There are multiple possibilities for treating fatigue and I’m on nothing.

I know it’s a broken record, but my care is horrible.

 

 

[Mark S]

First Neuro visit was 3/19 for weakness and falls and fatigue.

First possible ALS was 11/19 after fasciculations started.

12/20 I had voice/swallowing and aspirated.

This next EMG will be #5 and the last. I’m done.

When I look back, it’s been almost 4 years. I tried taking CBD for my jaw 4 years ago. It fatigued when I ate. I thought it was age and previous injury. Then 3 1/2 years ago I had hip weakness.

Obviously I am grateful it is slow, but the medical has been the worst part.

 

 

[Mark S]

Blood tests?

I am in very similar combination of symptoms with no certainty.  GERD, swallowing weakness, fasciculations, cramps, weakness.

It seemed like upper motor dominant ALS, and now some muscle atrophy in hand

Hang in there. The lack of clarity is rough.

 

[Mark S]

You can have pre-existing conditions that will complicate but not be caused by or be a presenting symptom.

As you probably realize swallowing/reflux is looked at multiple levels from tongue to esophagus, I have some  weakness across the whole system and some Drs say it is not “enough” to be certain or even neurological, others think it might be.

To have problems in only one aspect, and history. It will lead doctors away from MND. But I honestly believe anything is possible.

But GERD is also elevates cancer risk, have you been tested for paraneoplastic disorders, which look like MND as example.

I feel anyone asking patient groups these questions is not feeling they are having their questions answered by your doctors.

I would want to understand why they did the testing they did and is there anything that they should be doing, are they talking to gastroenterologist and ENT.

Lastly the EMG.  I have been told many times “it would show up by now” but I feel they have too much faith in their machines and projections.

Please try to contact Drs. I often find writing out question and emailing is easier than visits.

 

 

[Mark S]

Jerry,

I read this many times and thought about what to say. That’s a complicated history.

My opinion is when experts do work ups multiple times for MND then it by definition looks like MND.

Is it or is it something else? You have to keep looking because there may be something treatable. Or you need clarity on MND.

There comes a point where you take a break from looking, try to get some symptomatic relief and revisit later.  You didn’t mention all the other things you should have been tested for, so I don’t know what was ruled out. You also didn’t mention Neuro exam findings.

Its up to you to decide what you need and hopefully you can find doctors that listen and keep trying.

There are nice people here but I’m pretty sure we don’t have answers, (I know I don’t) but there is a lot of experience.

Take care

 

 

 

 

[Mark S]

This is infuriating. My chest tightens reading and thinking about your problems and lack of care.

I keep telling myself (and others) that I have real weakness and have to adjust my life around those limitations.

I also have anxiety because my care has been blatant malpractice. I finally am developing team that I trust and can communicate with so there is less anxiety and less sporadic problems.

I spend a lot of time trying to develop clear awareness of what is baseline sensations and function.  If I am worse, first rest, distract my mind. Worse is caused by over exertion or stress. My progression is too slow to be sudden worsening.

By definition, baseline is better than stressed and fatigued state.

I don’t know if this helps but don’t give up looking for help.  When stressor hits, try to get back as soon as possible.

I finally found a psychologist that understands healthcare stress and that alone helped.

I used to be able to handle stress. I lived in extreme healthcare environments.  Now a txt I have message makes me want to flush my phone. It took me two hours to open an email yesterday.

You are not alone.

 

 

[Mark S]

Update.

I got a note back from neurologist and she agreed that it is hard to untangle symptoms and we will try to address neuromuscular first.

This is the correct answer.

I also had 1st meeting with a psychologist and he was empathetic and attentive. He admitted the Neuro was out of his realm but we can work on the emotional chaos.

Again the correct answer.

Hyper-reflexia and pseudobulbar affect is the inability for nervous system to filter out minor inputs. A simple touch shouldn’t make you jump and the Baby sitters club shouldn’t make an adult weep.

This inability to control responses to minor “stressors” when you previously had no issues is not a “psychogenic” issue.  It is a clinical symptom.

I shouldn’t have to explain this to the head of an ALS clinic..

[Mark S]

I am trying to be optimistic, but first visits are often ok. It’s the follow through that matters.

Often, taking control is seen as Dr shopping or worse Dr Google.

Its hard to break through the stigma but Cleveland Clinic has the best culture and work ethic I have seen.  They are much better at communicating and access to medical records.  Their note was the most comprehensive I have seen. That takes a lot of time.

Patients and Drs speak different languages, I wrote them to discuss what I see as a misunderstanding.

IMO neurologists have advanced tech like scans, but when they are using physical exams, they are 100 years out of date relying on 1890 Babinski evaluation.  It is crude and cannot pick up subtleties.

I spent my whole life on my neurologic function (multiple head injuries as child) and was a perfectionist.  We have very different views on what is “normal”.

Anyway I wrote them a note to try to start from a place of, I really need your help, and please listen to my experience and expertise. I know my body better than anyone ever should. I hope it helps me and the next person they see.

This binary gulf between “organic” and “functional” —-neuro and psychological has got to go.

 

 

[Mark S]

I got the kids back in school and activities, finally have some quiet to regroup.

Fired my medical providers, it was kind of mutual and organized a new team.

I am now only going to go to Cleveland Clinic except for local PCP. My first visit went well but they were clearly confused by my medical records because they are a disaster.

Needles!! I am scheduled for yet another EMG next month.

Just trying to stay and stable as possible.