New Diagnosis of Bulbar ALS

Signe

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For almost three years I've had symptoms and have had so many tests and experiences I can't even begin to explain but yesterday I received the diagnosis of Bulbar ALS. Last year I was told it was neurosarcoidois, I was told it was a conversion disorder, I was told it was myasthenia gravis. I don't know if I should believe anyone now. This is not the outcome I want. I left this group last summer said I wouldn't be back. But here I am again. Well shit is all I can say...just shit.
With everything that is going on with me, I have to make plans and get things in order. I am wondering if anyone can advice final planning?
I am waiting for ALS Clinc appointment to get set up. Do they help with only health plans or for disability plans benefits ect,
 

Nikki J

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I moved this as you had posted in the PLS forum

I am very sorry indeed

What a difficult journey! You have seen multiple doctors I believe? This opinion has been confirmed by a neuromuscular octor I hope?

Many clinics have social workers. If not your ALSA chapter may. Certainly getting things in order and putting wishes into writing is important but do give yourself a moment to absorb this. You are surely in shock as anyone would be.

If you have not already please ask about genetic testing as you have family history. There are currents trials for the two most common mutations

Sorry that you had to return!
 

lgelb

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I'd be skeptical, too, Signe. Where was this diagnosis made? Feel free to post the EMG that is being used to support the dx.

Not sure where all you have been, but however many stops you have made, a bulbar ALS diagnosis merits a second opinion of that diagnosis, per se.

Have you been to Northwestern, Rush, or somewhere similarly storied, since you received the dx?

As to final planning, once you have verified and internalized all this, we are always happy to help.

Best,
Laurie
 

Signe

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The Emg was in Rochester at Mayo, but the same doctor told me that my symptoms were from a functional disorder previously. I'll try to paste a portion of EMG

Details

Study Result

\ 25-Apr-2019 Electromyography Final Report

Study Number: 3



EMG Consultant: Mauermann, Michelle L. 127 or (77)4-6689

Referred by: FLANAGAN, EOIN P (127 or (77)3-5942)

Referred for: MG

Referral Code: 058 057

RX: 500



SUMMARY: Prior to starting the procedure, the patient's identity was verified, pertinent available

records were reviewed, the nature of the procedure was explained, the appropriate sites of the

exam were confirmed directly with the patient, and a pre-procedure pause was performed for final

verification of all of the above. Mestinon was held for 48 hours.



Nerve conduction

studies demonstrated a reduced facial motor amplitude. 2 Hz repetitive stimulation of the spinal

accessory, facial and ulnar nerves was normal at baseline and following 1 minute of isometric

exercise. Needle electromyography demonstrated fibrillation potentials in left cranial and

thoracic paraspinals. There were fasciculation potentials in deltoid and thoracic paraspinals.

Needle electromyography demonstrated long duration motor unit potentials with reduced recruitment

in the cranial, cervical and one thoracic innervated segments.



CLINICAL INTERPRETATION: Abnormal EMG. There is electrophysiological evidence of a chronic,

active disorder of motor neurons or their axons involving cranial, cervical and thoracic segments.

There is no evidence of a defect of neuromuscular transmission.



M. Mauermann (127 or (77)4-6689)/MJB



NERVE CONDUCTIONS Temperature: 32 °C

Record Rep Normal Normal Distal Normal F-Wave F-Wave

Nerve Type Site Stim Side Amp Amp CV CV Lat Lat Lat Est

---------------------------------------------------------------------------------------------------

Spinal

Accessory Motor trapezius * L 7.5 2.3

---------------------------------------------------------------------------------------------------

Facial Motor nasalis * L 1.4 (> 1.8) 3.3 (< 4.1)

---------------------------------------------------------------------------------------------------

Ulnar Motor ADM * L 8.0 (> 6.0) 65 (> 51) 2.4 (< 3.6)

---------------------------------------------------------------------------------------------------

Median Sensory rec:dig ii L 24 56 2.7

---------------------------------------------------------------------------------------------------





NEEDLE EMG

Ins Spont MUP Recruitment Duration Amplitude Phases

Muscle Side Act Fib Fasc Normal Activ Reduced Rapid Long Short High Low % Turns

---------------------------------------------------------------------------------------------------

First dorsal

interosseous L NL 0 0 NL

---------------------------------------------------------------------------------------------------

Deltoid L NL 0 + + + 25% ++

Comment: varying MUP

---------------------------------------------------------------------------------------------------

Triceps

brachii L NL 0 0 + + 15% +

---------------------------------------------------------------------------------------------------

T4 Paraspinal L INC + +/- + + 15%

---------------------------------------------------------------------------------------------------

T9 Paraspinal L NL 0 +/-

---------------------------------------------------------------------------------------------------

Vastus

medialis L NL 0 0 NL

---------------------------------------------------------------------------------------------------

Tibialis

anterior L NL 0 0 NL

---------------------------------------------------------------------------------------------------

Genioglossus L INC + 0 ++ + ++ 15%

Comment: varying MUP

---------------------------------------------------------------------------------------------------

Masseter L INC ++ 0 ++ + ++

---------------------------------------------------------------------------------------------------
 

lgelb

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This would be easier to read as an image. Can you snap it with your phone and upload it as an image?

Neither the EMG examiner nor the referring doc are ALS specialists. I gather they were addressing presumptive MG. But you say the ALS dx was not made at Mayo. Who made it? I would have expected them to do their own EMG.

Based on what I see here (not a definitive study) and what else you have said over the years, I don't consider the ALS dx a sure thing, so I'd continue to recommend a 2nd opinion.
 

Signe

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This study was done at Mayo yesterday and I saw a Mayo doctor. Yes I was going for a SNFEMG for possible myasthenia gravis as I responded to the mestinon showing improvement of speaking. I was thinking of a mg diagnosis as bad but I could treat it and live with it. But the Als diagnosis is a as you know devastating. I'll attempt to attach a smaller clip of emg. 4 neurologist saw me yesterday.


CLINICAL INTERPRETATION: Abnormal EMG. There is electrophysiological evidence of a chronic,

active disorder of motor neurons or their axons involving cranial, cervical and thoracic segments.

There is no evidence of a defect of neuromuscular transmission

This was the part they read to me several times.
 

lgelb

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Yes, I got the conclusion, but it's not really a conclusion as it references both MND and axonal disease as possibilities. The improvement you had with Mestinon is another ray of hope as ALS is generally relentlessly progressive overall. However, I know some here did have improvement with Mestinon as well.

As another question mark, reduced amplitude in the facial area is not a feature of MND, though of course it cannot rule it out in and of itself.

I was referring to the columns of data, the tables, that are pretty hard to parse in text. But any way you slice it, even if you had shown up here with no previous history with us, with the succession of diagnoses you describe, and had been diagnosed with ALS, even at Mayo, I would advise a second opinion. We are all human and confirmation bias is a real thing.
 

Signe

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Igelb, thank you, I understand and agree with a second opinion is a good idea. I do have an appointment with another neurologist in La Crosse. Last night the my appointment physician notes were also posted on my portal site. Both neurologists say there were upper and lower signs with physical exam. I don't know what to do now. The way my body feels, something awful is going on. I read on a physical note in from a neurologist from Thursday who mentioned progressive bulbar palsy.
I know I'm in shock and I don't have a clue what's going to happen. I just am coming to the conclusion that I need to take care of my end plans while I still can Express them. I will have my daughter get a power of attorney. Stuff like that. I am waiting for appointments at the ALS clinic at Rochester Mayo. Does anyone know what services are available at a clinic like that? They mentioned nutrition counseling and speech therapy. They also talked about social services and that disability benefits would be immediately accepted? My mother died with ALS, so genetic testing was discussed. I can't seem to put it all together in my head. It all is a big blur and was this all real kinda thing.
 

KarenNWendyn

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I’m sorry you’re going through all this. ALS or not, you have something serious going on, so it’s a good idea to take care of “end plans” while you have the time.

ALS clinics typically involve seeing the doctor, nurse, speech therapist, dietician, PT, OT, and RT. Even if you don’t have an established ALS diagnosis, you can still see a speech therapist and dietician if those are your needs. The main advantage of an ALS clinic is the coordination of care at one center.

One of the main “advantages” of getting a confirmed diagnosis of ALS sooner rather than later is that you can take a copy of a letter or chart notes from your physician with that diagnosis to the social security office and get on a fast track to get social security disability and Medicare assuming you meet other work-related qualifications.

Best of luck.
 

Signe

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Thank you all.
I'm coming to terms with this I think. I'm sure it's an awful situation coming on for me, I know everyone here is in the same boat. I'm sad and I'm upset and I feel cheated but at the same time I'm relieved and content, really weird emotions I guess. I'll need all the advice and encouragement I can get in the weeks ahead. I'm beginning to wonder how much time is there left? Anyone understand the stages if there is anyway to know?
 

KarenNWendyn

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No way to know how much time any of us has left. We do know that with motor neuron diseases, it’s critical to maintain weight. Maintenance of weight slows disease progression. If you are losing weight, you’re losing muscle. If you’re having trouble swallowing or chewing, and especially if you are losing weight, then it’s time to consider a feeding tube.
 

Signe

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Well that's not good. I've lost 50 plus pounds in the last year. Muscle is definitely going. Even I can see that, my hands look like I'm 90 yrs old. Chewing and swallowing have been work for 2 years. Speech is awful. I don't want anything done like a feeding tube, I worked in a nursing care facility long enough to know that quality of life is far superior to longer life. (I don't understand how they could have told me that this was a functional disorder just 9 months ago) I get kinda mad about the process to get to this point...and how much time was wasted waiting for a answer. It doesn't matter any more I guess. Just sh*t is all I can say.
 

Doglady

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Hi Signe-
I'm sorry for the long period of confusion, that you've now been diagnosed with this terrible disease and the lingering uncertainty. I think you will find that the Rochester Mayo is a great ALS clinic as soon as you can get in there. I don't think it is uncommon for the first appointment to take a while to happen. We have two very good ALS clinics in the Twin Cities and still many PALS around here still choose to drive the extra distance to Rochester Mayo and say they are quite happy with their care. The neurologist there will certainly review the results of your previous tests with you and order any more that may be needed. And, be able to definitively advise you whether or not this is ALS.

Sounds like you are concerned about loosing the ability to express your final wishes before you can do so. Did you know there is assistive technology to help you communicate via an app on your tablet or cell phone? You type in what you want to say and a preselected voice (or your own if you were able to voice bank) will say what you have typed. You can set up some standard phrases or questions and prompt for those quite quickly. When you are at your ALS clinic visit there will probably be a language specialist who can help you maintain the ability to communicate one way or the other. Once you have attended your first clinic visit you will be amazed to hear about at all the many support services that are available to ease your journey. And at Mayo you will be close to some very interesting stem cell research.
Take care and enjoy some spring -
Mary
 

Signe

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<quoted text removed>

Thank you, I just saw your comment. I'm doing better with stuff than I was. I guess I'm coming to a point of acceptance. Thank you.
 
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