can someone give advice?

[Bev]

hi Mikael

I have been diagnosed with PLS. Primary Lateral Sclerosis. my emgs are clear too for ALS. I have spasticity and poor balance so I fell and hit my head many times. now I’m non verbal for 6 years now.

hope this helps.

Bev

[Mikael knoth]

Hi Bev, sorry you have been diagnosed with one of these damn diseases , at least its slow progression and hopefully they will come up with something before yours gets any worse. . they won’t even entertain any motor disease, which i really don’t understand , i know my last omg stated a few fibs in one muscle the gluteus maximus. i asked if this was acute and the dr at mayo said no, which according to mayo info site it is acute , this was the first time i showed any acute and the damn dr doesn’t know what he’s talking about, i told him i was worried about bulbar and he replied well we tested that area in the spring and i said no you didn’t and he looked at the record , knew i was right and just answered you don’t have bulbar, very disappointed in mayo. sorry about the rant. i really need to see someone who is going to state what is wrong with me , feel like i’m going crazy wondering. thank you for listening

hugs

mikael

[Bev]

Hi Mikael,

why do you suspect you have bulbar issues.

My symptoms started with my right leg and hand. I noticed when I was slow writing and doing up buttons on my police.

I got into a health kick with exercise and diet. I ate tilapia about 5 times a week and took fish oil capsules. I believe that caused an imbalance in my body with the mercury and other toxins. Neurologist disagreed with my theory but what do they know.

Have you had an MRI of yr cervical spine. My discs in my neck were compressing my spinal chord too but I had no pain so was unaware. I had surgery in 2010 to correct that and I improved but my balance didn’t so I fell many times.

Good luck on yr journey getting diagnosed Mikael.

Bev

 

 

 

[Tomoko Zemman]

Hello Mikael,
I understand your frustration as I went though a similar experience. My case looked easier as my mother also had the condition, but diagnosed with spinocerebellar ataxia due to lack of genetic testing at the time. My diagnosis went from hypocondriac to ALS to ataxia and back to ALS over four years. I even got a doctor review my MRI images to detect any chance of chiari malformation.
I feel it is important to know what the causes of the conditions. First of all the conditions may have established treatments. Secondly, it keeps my sanity if I have something to follow or apply for clinical researches. I am in the middle of registering with Precision Medicine research which they collect data from ALS patients (including suspected) to utilise/analyse them to develop treatments and cure in the future.
I hope the new year brings bright light to you!
Tomoko

[Mikael knoth]

Hi bev I think bulbar because my mouth fills up with saliva and I have to remind myself to swallow. Also nose runs while I eat. I don’t think it’s bulbar onset since it started in my legs.
sometimes I wonder if the drs are not open to things like mercury imbalance   I’ve had an mri about 2.5 years ago had a spur on  c-6

c-7.  Also noticing I sleep but stilll very tired. Will be going up to mass general as soon as they send me a date.
mikael

[Mikael knoth]

Hi Tomoko. Sorry that you and your mom had the same condition I’m gathering you have familial als. How did yours start? I get sick of going to drs only to be disappointed with diagnosis that don’t make sense and I keep getting worse but not worse enough to send up a flag. Which don’t get me wrong I don’t want to get worse. I’m rambling as I am just frustrated over being in limbo. Never heard of the company you are signing yourself up for. Would like to hear more of your journey to diagnosis. 4 years is a long time.
mikael

[Susan Hoerber]

Hi Michael ,

ALS is the last diagnosis to give. I too went thru 2 spinal surgeries (cervical in 2015 when my hands and arms started to have problems) (lumbar fusion in 2017 when my legs and core started going)…during this time seeing neurologists and having two EMGs on only one hand, then one foot and arm which they chalked up abnormalities to neuropathy . Also seeing a shrink because I knew that there was something seriously wrong with my body. In Dec 2017 after multiple falls I saw a foot dr for brace to help my twisted left foot …who sent me to a neurologist he trusted because my feet where not a common result of spinal stenosis or neuropathy . This Dr did a full body EMG which afterwards told me I had ALS and referred me to a multidisciplinary clinic. On January 2018 got my officially diagnosis of ALS (limb onset). My ALSFRS Score at time of diagnosis was 36 …now in Jan 2020 my ALSFRS is 10 I am a total quadriplegic problems speaking , swallowing and breathing. But I am still here, My suggestion to you is go to a ALS Multidisciplinary Clinic ( I go to Holy Cross Phil Smith ALS Clinic kn Ft Lauderdale FL) can find one on ALSA.ORG (The ALS Association) Ask for a full body EMG if you have ALS which I pray you don’t have ALS but if you do and am a vet…I hear the benefits from VA are amazing for veterans diagnosed with ALS since ALS has now been linked to military deployments

[Mikael knoth]

Hi  Susan

Yes I am a vet. I kind of wonder why all my emg are just one arm and one leg one time they added thoracic and another added my tongue( that one was only because I insisted. I am making my way to mass general next , have been in touch with them. Dr that I’m seeing is in charge of the clinic there. Makes me mad that I had to go to a shrink because I was told this is from anxiety. The shrink advised me to Perdue it since he thought I wasn’t imagining this crap. I’m sad right now knowing they are just waiting for failure. Thanks for replying. How long did it take you from the start to be diagnosed.

[Bev]

Hi Mikael, like Susan they diagnosed me at first with spinal stenosis. PLS has many similar symptoms as ALS. I’ve had a leg brace to prevent hyper extension of my knee and an Ankle Foot orthotic. Now I’m trying a build up shoe on my shorter leg to make it easier for me to walk with a walker. Not much difference between the length of my legs but I’ll try anything to walk more comfortably and stable.

I understand yr frustration seeing many specialists. Many drs don’t have good bed side manners. You are an expert in yr normal. trust yr instincts

[Tomoko Zemman]

Hello Mikael,
Mine started with atrophy in both legs at least ten years ago. At that time I did not have other symptoms and I did not relate with NMD. Then I started having balance issues and hand tremor. When I realised I could not run 6 years ago, I kept ignoring the condition and blamed on ageing (although I was only in mid forties).
Here are the tests I went though.
* Blood work, 24- hour urine, spinal tap (possible infection detection)
* MRI on every spinal section and cerebellum
* EMG
* Some tests to rule out autoimmune conditions.
* Genetic test for familial ALS caused by SOD1 gene
* Genetic tests for every known spinocerebellar ataxia, some recessive ataxias and episodic ataxias.
After the genetic tests for ataxias for being all negative, I finally accepted the diagnosis of ALS.
I found the research by precision medicine though ALS news today. I just wanted to contribute to their data collection.
Tomoko

[Mikael knoth]

Hi Tomoko

Wow your als took a long time getting diagnosed, i would of thought atrophy would of been a red flag. You have very slow progression i gather since its been ten years since your first symptom. Where do you live? this site seems to be a great site to communicate with people. how are you doing right now? i think its important to know what is going on with your body .not knowing is so bad. i think i would do better with an answer to my ailment. hope all goes well with you registering .

mikael

[Tomoko Zemman]

Hello Mikael,
I live in Austin Texas.
When my genetic test for SOD1 came out positive, I felt like I hit a jackpot as I had been craving for an answer; however, I was told that some patterns of mutations in this gene can be benign by a specialist. I went back for more testing.
I came across several reports which helped me understanding my physical conditions. I found two independent studies mentioning prognosis in ALS due to mutated SOD1 tends to have differences according to genders. My maternal grandfather also had neurological condition but he did not have the same conditions mother had. His symptoms did not appear until he was about 60, but his health declined fast, while my mother noticed something was wrong with her when she was only 38 and lived to 65 of age without feeding tube or a breathing aid. Second research I found was about creatine kinase. My creatine kinase level has been very very high to the extent I wonder why doctors did not suspect muscular dystrophy. Anyways, this research report mentioned that elevated creatine kinase may be slowing the progression of ALS. Then I found a comment about various types of SOD1 mutations. My mutation seems to be atypical and not confirmed to cause ALS; however, the mutation is in coding region and it done not produce normal protein. I think all these reports (if I trust them) explain that my conditions are atypical but ALS. I also have supporting test results, such as EMG and hyperreflexia.
I have been a full time wheelchair user since spring of 2018, but I still workout, travel and attend events with help of family and friends.
If you are interested in knowing about the precision medicine program, you can read about it online. The site is found at ALS.net > ALS Research > Precision medicine program. The program not only helps the researchers with gathering data, it is also designed for the patients to keep track of own conditions.
Tomoko

[Mikael knoth]

Hi Bev , thank you for the encouragement.Some of these drs are just so bad. even my gp i had to correct her about what vitamin was what and she argued with me until i google it for her, this last mayo dr when i questioned the fib i said it was spontaneous action, he said no, i brought up mayo web site where it says it. he should of paid me. for a first class hospital that just sucked. i can imagine when people are weak and tired and they have to deal with these idiots. I hope the orthotic is helping you walk with more confidence and keeping you balanced. will keep people informed of what happens in boston.

mikael

[Mikael knoth]

G morning Tomoko

Thank you for the great information, in my family the males never lived pass 60 from heart conditions, my sibling and i are the first to reach the age we are, me being the youngest at 67. My older brother has some kind of neurological thing going on too, that is why i am anxiously awaiting to go to mass. gen to find out. i will look  on that area that y ou told me about. so you are considered atypical but familiar? this thing whatever is wrong with me has been given me a run for it, although trying to make peace with it. thank you for your replies . I’m happy you still go to the gym and family things , we should never surrender to anything . Hoping this finds you in a good space today and lots of energy.

mikael

[Jerry]

I would appreciate someone chiming in on this.  This is my first time here, thank you for your time.  I’ve had laryngeal reflux for 13 years, I don’t get heartburn but a lot of sore throats, post nasal drip, etc.  with that being said, I had the LINX reflux management device (a bead of magnets the go around the esophagus to augment the lower esophageal sphincter) installed.  This device is anchored 1mm from the vagus nerve bundle.  Ok, fast forward to 2018, I started having some issues swallowing and had a EGD (camera that looks into your esophagus and stomach) that found I had presbyesophagus (esophagus forms corkscrew shape), the GI said it came from chronic reflux, but, the year before I had one done to check the effectiveness of the device and the esophagus was perfectly normal.  Fast forward to December 2019, I started having muscle fasciculations and in April 2020, had a EMG/NCV conducted at a MND clinic, both tests were normal.  The device was causing heart attack symptoms (it was theorized it was hitting the vagus nerve causing heart attack symptoms because a thorough cardiac work up found no cardiac issues), and swallowing issues.  In November 2020, I had the device removed and everything seemed to resolve.  In May 2021, I had another EMG done at the same MND clinic just to be sure I did not have ALS, and the tests were normal.  At that time 17 months had passed since the start of fasciculations and 13 months since the first EMG/ NCV.  None of the test up to that point tested the bulbar muscles. In June 2021, I once again started having trouble swallowing and burping, and had another EGD and a High Resolution Manometry conducted.  The EGD was normal but the Manometry revealed the esophagus was not functioning well, it showed the muscle was weak.  In September 2021, my VA doctor wanted me to have another EMG/NCV, because a head to tailbone MRI could not account for my swallowing issues and fasciculations.  This time I went to UT Southwestern Medical Center, which is a certified ALS research hospital, and medical school.  The doctor who did the study is a professor for MND at the hospital and the tests were once again normal.  She tested many areas on the body and did test the 7th cranial nerve (for bulbar onset) but no other facial or neck areas.  So, 20 months, 3 EMG’s/ NCV’s, all by MND experts, swallowing issues, no breathing issues, no speech issues, but about 3 months ago I was tapping my right index finger on my knee and all of a sudden my finger went weak, no matter how hard I tried I could not tap any harder or faster.  I was only able to tap around 40% speed and power of normal.  It lasted about 30 to 45 seconds, then it went away, hasn’t come back sense.  When I mentioned it to the doctor she told me ALS doesn’t typically present that way, but she didn’t say never.  So there it is, sound like als?

Thanks again

[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

 

 

 

 

[Jerry]

Thanks for the advice.  The questions rolling around in my mind are:

1. How often does ALS start in the esophagus?

2. The neurologist who conducted the EMG in September of this year told me that if my symptoms that started in 2019, were be caused by als, it would have showed up on the testing she did. Would you agree with that?

3. If what I have is in fact caused by als, wouldn’t it make sense that more than just my esophagus would be weak after almost two years of symptoms, and shouldn’t it show up on several of the bulbar areas?

 

 

[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.

 

 

[Amanda]

Jerry,
That is a lot of history and information to consider. Please keep in mind that we are not professionals in the medical field and we need to be cautious about responding with advice. What our members can do is compare notes and experiences on how ALS has manifested for them or their loved one. As you know each case is different; however there are some commonalities.

Have you had genetic testing for ALS? Do you have any risk factors commonly associated with ALS. I would continue to seek out medical advice and answers from your doctors. The entire process is typically lengthy and many times there are misdiagnoses. It is a very frustrating and stressful path regardless if it is ALS or not. Keep looking for medical professionals you trust.

Amanda

[Jerry]

I appreciate the advice.  I have not had genetic testing, but my mother told me no one on either side of the family has ever had anything like this, mostly high blood pressure, and a little cancer.  I just guess I have garbage genetics.  The thought process the doctors have is “3 EMG/NCV in 21 months, 3 MND specialist, not als”.  I had to start going to a pulmonary doc last year because reflux was affecting my airway.  In June of ‘20, my Forced Vital Capacity baseline was 6.77 liters, 10 months later in April of this year it was 5.4.  I never caught it because when they gave me the results they just told me that the overall test was better than the previous.  I have another appointment with a MND doc at UT on 13 December.  When I told her about the pulmo study she just said “we will discuss it at your next appointment”.  However, thus far, she has been staunch about me not having als to the point of her replies being on the snippy side, until now, now she wants to discuss it. The only caveat to this is I had another PFT yesterday, and do not yet have the results.  If my FVC is close to that of last year, then that’s good, but I have my reservations.  Have you ever known someone with symptoms and timeframe like this where it was or wasn’t als in the end?  Just like the gentlemen Mark S, who has been talking with me, I too started having (just 3 days ago) a sore jaw while eating.  Out of the blue, no reason why.

Thanks for your insight.

[Jerry]

Thanks again.  I had a EGD in July of this year, squeaky clean.  I saw an ENT a few months ago, no issues.  The first EMG/ NCV study was conducted (5 months after symptom onset) due to muscle fasciculations, myoclonus, and cramps. The second one (done 13 months after the first) was because I wanted to be sure that the first one was not done too early.   The third one, was done because a head-to-tailbone MRI, could not explain the fasciculations or swallowing issues.  Hope that answered your questions.

[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.

 

[Jerry]

I assume you have yet to be diagnosed?  How long have you had symptoms?  How many EMG studies have you had?  I couldn’t agree more, all the waiting, the money, taking days off from work, stress on the family etc. etc.

[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.

 

 

[Jerry]

How many visits were with MND specialists?  My jaw started hurting 3 days ago while eating, out of the blue.  How did they come to the conclusion you had possible als, and why are you through after your next EMG?

Its good talking with you.

[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

 

 

 

 

[Jean-Pierre Le Rouzic]

> I like what ALS Assoc did here with the screening tool in trying to speed up dx.

Yet, it’s a bit weird that an ALS association tries to define ALS.
The ALS association can steer the direction in which research goes, simply because they fund a lot of it.
It has zero interest to fund research that would find that ALS is actually either or both:
– A spectrum of different diseases (different etiologies) that have motor issues and muscle wasting as outcome.
– A spectrum of diseases that stem from a common generic root, like most proteopathies hint at or even more audacious like that those misfolded proteins are the consequence, not the cause of those diseases. So approaches to reduce proteins level (like in most ASO approaches) are useless.

[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.

[Dagmar]

Regardless of opinions of how ALSA operates, the flow chart that Mark shared is I believe something helpful for non-ALS specialists/GPNs as well as patients. This chart lays out symptom identification in an easy-to-understand format.

Thank you for sharing this with us Mark.

 

 

 

[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.

 

 

[Dagmar]

Regardless of opinions of how ALSA operates, the flow chart that Mark shared is I believe something helpful for non-ALS specialists/GPNs as well as patients. This chart lays out symptom identification in an easy-to-understand format.

Thank you for sharing this with us Mark.

 

 

 

[Mikael knoth]

G evening every one, i am the original poster on this thread, in the two years since this thread i have been to mass gen to see dr. Cudowicz i am sure i misspelled her name, but she said you had more emg than anyone i have ever seen. I know als you dont have it, she said she would test me for small fiber neuropathy, how this would explain my saliva and mucus was beyond me . Walking has gotten worse for me and my muscles are now painful with my hamstrings feeling tight. Also was walking through the airport just carrying my cpap machine and could only walk three steps all of a sudden my neck and upper back had severe pain with every step i took I couldn’t go to dr right away as i was attending my brothers funeral and my other brother was having major cancer surgery. My brother who passed away from a neuro disease not sure if it was Parkinson’s , my mother had the same thing. Got back home and went to v a to have an mri after my X-ray was suspicious, i herniated 2 disc in my neck, just by sitting on a plane. Saw the neuro at the v a , she was giving me the bum’s rush, she said what are you worried is wrong , i told her als was on my mind she took her reflect hammer bang my knee and said see you dont have als. It could only happen to me, i was ready to beat her with her hammer, decided to contact my neurologist at mayo and made a appt with him for exam and emg AGAIN! They seem to get stranger and stranger . It’s been 5 years , i am completely mentally exhausted. I ‘m hoping for some clarity on this visit. Even went to a functional dr who took 15 vials of blood including some gene work and was diagnosed with chronic inflammatory response syndrome. It’s such a cluster f***. Sorry but am very frustrated. Sorry for venting so much.

mikael

[Bill]

Mikael,

I notice you are in St Petersburg? Have you visited USF in Tampa? I’m from further south in Florida but ended up coming up to USF then to USF  ALS clinic where I was diagnosed by Dr Vu the director of the ALS clinic. The neurologists locally couldn’t commit to a diagnosis. The clinic is a full research and treatment clinic. Analysis of anyone’s symptoms and prognosis by us in forums is very bad as even some experts struggle with it.

[Mikael knoth]

Hi Bill , i would never ask for a diagnosis online, symptoms vary too much with this disease so no two are alike , besides anyone could reply and lets face it none of us are doctors, i have seen dr vu early on i think after year and half, and was cleared by him. The think is that my symptoms continue to get worst and each neurologist has their own take on it, i have had it with these drs. I like dr. Vu very much.

[Bill]

Mikael,

I had problems with local “experts” . Had neurosurgeon who said I did not have ALS. He gave me nothing but just wait. I then went to another local neurologist who would t even run any tests just wanted to wait 6 month periods between visits. He didn’t think I had ALS. I insisted on getting referral to university. That took over 9 months wait. Frankly , my symptoms really didn’t change during my time to get diagnosis. The slow progression I think causes the drs who are not really specialists to delay committing to diagnosis. Pretty sure I’ve had this over 7 years. I go back to see Dr Vu once a year but go to certified ALS clinic here locally every 4 months. I did two drug trials with Dr Vu at USF.

[Mikael knoth]

Hi Bill I’m so glad that you are a slow progress-or but it still sucks for you. This December is 5 years,i have been everywhere you could go for als to be diagnosed. Local neurologist are a waste as they will say well you been to this place and I’m not going to contradict them. God forbid i did have this i would think i am a slow progressor too . I just want them to come up with something that is feasible and that i can at least face whatever it is. I do pray for people with als,its such a terrible disease, not that any disease is good. My brother and mother died of a neurological disease that they couldn’t pinpoint. I wanted an autopsy but my family said no. Hope you continue to be very slow with this disease

[Bill]

Mikael

My dad died from FTD and my brother from MSA which can look like Parkinson’s as it starts. Two different MND than my als.  Both were formally diagnosed.

[Mikael knoth]

Sorry to hear about your loss. Both brother and mother were first diagnosed with Parkinson’s than that was changed ,never did come up with a diagnosis. Wish i would of pushed harder, i ,lived on the other side of the country.

[Bill]

Mikael, my brother was also first diagnosed with Parkinson’s. After the Parkinson’s drugs did nothing further testing brought the Multiple Systems Atrophy. Survived about 2 years from diagnosis maybe 4 years from first symptoms.