Mom just diagnosed ALS, need hope

em9988

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Hi everyone here is a little backstory and although I might just be digging for a glimmer of hope since we just got the diagnosis, please be honest and give it to me real as I cannot imagine my life without my mother, we are very close and I would like for her to at least hold her grand children.

My mom whos 62 y/o and previously mostly healthy about a year ago started losing control of her foot (drop foot) this kinda persisted and nobody thought too much of it as the initial diagnosis was that during covid she lost a lot of weight due to stress and having to wear a crap ton of PPE at work so it's possible that her peroneal nerve near her knee was pinched.

We just kind of assumed it was this for about half a year, going to acupuncture/Physical therapy and seeing a neurologist who agreed with the original diagnosis.

We recently, however, decided to get a second opinion from a neurologist in Mount Sinai NYC who supposed to be a ALS specialist saw her for about an hour did the EMG needle test and diagnosed her with ALS. My world turned upside down and for the whole day I almost couldn't accept it. I asked the doctor if ALS usually progresses this fast as less than a year ago she just had slight ankle numbness and now she has the foot drop and he said her case would be considered slow as it's been almost a year.

My mom actually doesn't really feel this anywhere else on her body except her right leg below the knee, her other leg is slightly affected these days because she's leaning on it a lot, could be the ALS but I'm not sure.

After getting home I've been frantically researching and it seems that MMN could sometimes be misdiagnosed as ALS. The doctor at the ALS center didn't take any blood work, didn't look at her medical history. My mom has always had back issues her whole life, a genetic deformity of her low spinal columns that sometimes could pinch the nerve etc. is there is even a %1 chance that an ALS specialist tends to find what they look for since they work with ALS so much I would like some answers to what further steps I can take to confirm this diagnosis, should I have her take a genetic test or blood work to double-check if it can be MMN.

I understand that the information out there although list many things its often generalized and don't want to be liable so I've come here to those who had personal experience for your take and experience, for those who are willing to share your stories and experiences I'm grateful from the bottom of my heart.
 
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lgelb

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I'm sorry to hear about your mom. If you can post the de-identified EMG report, we could be more helpful. Her blood work and medical history would not relate to MMN, though. Still, blood work would normally be done at some point. Perhaps before she entered PT? From what you've said about her progression, the doc is correct that it would be considered slow.

And no, an ALS specialist is still a neurologist and isn't going to err on the side of ALS. That said, PALS are always advised to get a second opinion after an ALS diagnosis. There are several good centers in NYC, of course.

Best,
Laurie
 

Nikki J

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I am very sorry.

do you have access to her medical records? People with MMN don’t have upper motor neuron signs which are detected on clinical exam. If she had these then that would have taken MMN off the table. Umn does not mean arms vs legs. It is things like reflexes spasticity etc.

I would still recommend a second neuromuscular opinion on general principles. We recommend it for everyone.

the blood test involved for mmn isn’t genetic. It also isn’t 100 percent.

were you asking if an ALS patient should be tested for familial ALS mutations ? Yes they should. most without family history will be negative but it is still worth doing for trials and for family
 

em9988

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I'm sorry to hear about your mom. If you can post the de-identified EMG report, we could be more helpful. Her blood work and medical history would not relate to MMN, though. Still, blood work would normally be done at some point. Perhaps before she entered PT? From what you've said about her progression, the doc is correct that it would be considered slow.

And no, an ALS specialist is still a neurologist and isn't going to err on the side of ALS. That said, PALS are always advised to get a second opinion after an ALS diagnosis. There are several good centers in NYC, of course.

Best,
Laurie
What is a de-identified EMG report? I'm waiting for them to email me the exam results. The last time she had blood work done was last year right at the start of the process.

Is the slow progression thus fair indicative of the future progressions or could it accelerate at random?

Regarding getting a second opinion, is the best approach to tell the second neurologist that we are going to him for the second opinion?
I am very sorry.

do you have access to her medical records? People with MMN don’t have upper motor neuron signs which are detected on clinical exam. If she had these then that would have taken MMN off the table. Umn does not mean arms vs legs. It is things like reflexes spasticity etc.

I would still recommend a second neuromuscular opinion on general principles. We recommend it for everyone.

the blood test involved for mmn isn’t genetic. It also isn’t 100 percent.

were you asking if an ALS patient should be tested for familial ALS mutations ? Yes they should. most without family history will be negative but it is still worth doing for trials and for family

By clinical exam, would you be referring to when the doctor did the EMG needle test in her arm and upper back?

I mean like is the EMG test and medical exam enough to diagnosis this as ALS definitively and if any test like genetic or further blood work find other disorders or disease that could have similar symptoms as ALS.
 

Nikki J

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Deidentified means block out the name and anything else that would who your mom is. This forum is public

ALS progression is not linear and can speed or slow but starting out slowly is hopeful

yes you would say when booking you have an als diagnosis and want a second opinion. Sometimes people end up preferring their second opinion for ongoing care but no one will fault you for getting another opinion

no clinical exam is when you are in the office and they are testing strength reflexes etc etc

whether other tests are necessary depends on presentation often blood work and mris but sometimes the way a patient is on exam and emg can rule out some things.
 

em9988

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Deidentified means block out the name and anything else that would who your mom is. This forum is public

ALS progression is not linear and can speed or slow but starting out slowly is hopeful

yes you would say when booking you have an als diagnosis and want a second opinion. Sometimes people end up preferring their second opinion for ongoing care but no one will fault you for getting another opinion

no clinical exam is when you are in the office and they are testing strength reflexes etc etc

whether other tests are necessary depends on presentation often blood work and mris but sometimes the way a patient is on exam and emg can rule out some things.
Thanks for that, I was really wondering if the next neurologist would be like ugh you guys already got a diagnosis what's the point or something.

I am very sorry.

do you have access to her medical records? People with MMN don’t have upper motor neuron signs which are detected on clinical exam. If she had these then that would have taken MMN off the table. Umn does not mean arms vs legs. It is things like reflexes spasticity etc.

I would still recommend a second neuromuscular opinion on general principles. We recommend it for everyone.

the blood test involved for mmn isn’t genetic. It also isn’t 100 percent.

were you asking if an ALS patient should be tested for familial ALS mutations ? Yes they should. most without family history will be negative but it is still worth doing for trials and for family

We have a full blood work test coming up soon probably end of month but here is the Summary of the EMG test and the doctors notes, I can see in these notes that some things could be subjective and a second opinion would be best.

Neurological Examination:

Mental Status: Alert and oriented x3. Speech fluent. Good judgement and insight into illness. Recalled dates well.

Cranial Nerves: Visual fields were full. Extraocular movements were intact. No ptosis. Pupils were equally reactive to light. Light touch equal in the face. Normal eye and mouth closure strength. Raised eyebrow symmetrically. Smile symmetric. Rubbed fingers equal. Palate raised symmetrically. Normal tongue movements. Normal tongue strength. No tongue fasciculations. Normal sternocleidomastoid strength.

Motor: Both legs had slight spasticity. Normal tone in the arms. No atrophy. However there were fasciculations in the right quadriceps and biceps. Strength was graded as follows iliopsoas 4 right, 4+ left, right hamstring 5-, tibialis anterior 2 right, 5-left, right inversion 4, right eversion 1, left eversion 5-

Gait: Spastic pararpaesis dragging the right foot with foot drop. Unable rt heel stand. Could toe sand with support.

Coordination: Finger-to-nose and tandem gait steady.

Sensory: Negative Romberg. Pin was diminished in the right lateral calf. Vibration was intact.

Reflexes: Reflexes were 3+ throughout except for 2+ ankle jerks. Plantar responses were extensor bilaterally. Negative jaw jerk and Hoffman's.

EMG Summary

The motor conduction test was performed on 3 nerve(s). The results were normal in 1 nerve(s): R Median - APB. Results outside the specified normal range were found in 2 nerve(s), as follows:
  • In the R Peroneal - EDB study
  • the peak amplitude result was reduced for Ankle stimulation
  • the peak amplitude result was reduced for Fib head stimulation
  • the peak amplitude result was reduced for Pop fossa stimulation
  • the velocity result was reduced for Fib head - Ankle segment
  • the velocity result was reduced for Pop fossa - Fib head segment
  • In the R Tibial - AH study
  • the velocity result was reduced for Pop fossa - Ankle segment

The sensory conduction test was performed on 3 nerve(s). The results were normal in 2 nerve(s): R Median - Orthodromic (Dig II, Mid palm), R Sural - Ankle (Calf). Results outside the specified normal range were found in 1 nerve(s), as follows:
  • In the R Superficial peroneal - Ankle study
  • the peak amplitude result was reduced for Lat leg stimulation

The F wave study was performed on 3 nerve(s). The results were normal in 2 nerve(s): R Tibial - AH, R Median - APB. Results outside the specified normal range were found in 1 nerve(s), as follows:
  • In the R Peroneal - EDB study
  • cursor 1 latency result was increased

The H reflex study had results outside of the specified normal range in all 1 of the tested nerves:
  • In the R Tibial - Soleus study
  • the response was considered absent

The needle EMG study was abnormal in all 6 tested muscles.
  • Abnormal spontaneous/insertional activity was found in R. Tibialis anterior, R. Vastus lateralis, R. First dorsal interosseous, R. T8 paraspinal, R. Trapezius.
  • The MUP waveform abnormality was found in R. Tibialis anterior, R. Vastus lateralis, R. Biceps brachii, R. First dorsal interosseous.
  • Abnormal interference pattern was found in R. Tibialis anterior, R. Vastus lateralis.
 

Cathy H

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I am a PALS , a woman about the age of your mother. I was diagnosed with Bulbar onset Sept 2020. I have found great hope and I expect to survive and thrive. I'm not sure this forum is the place to go into detail, but feel free to look for Cathy's ALS Team on Facebook if you want to connect there.
All the best to you and your mom.
 

Tim B

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And no, an ALS specialist is still a neurologist and isn't going to err on the side of ALS. That said, PALS are always advised to get a second opinion after an ALS diagnosis. There are several good centers in NYC, of course.

Agreed - in our experience, the doctors were painstakingly cautious not to make the diagnosis too early. It was a bit rough doing all the additional testing to rule out other possibilities, but it was understandable and appreciated. I also agree with those recommending a second opinion. I don't feel qualified to interpret the results you posted; maybe there's something within that made the doctor feel it was an obvious diagnosis. If that were the case, I would still want a second opinion.

NYC was mentioned, but I was unable to divine your location. If it's not near NYC, you may want to update your general location, and perhaps someone here will have some insight. For instance, our area isn't exactly a medical hub, but we're about a hundred miles from Los Angeles, so we had access to a variety of top-notch facilities and specialists. This was especially comforting early on.

Regarding hope, you may just find your mother to be an excellent source of it. My wife proved to be the most reliable source of positivity and good spirit along our journey. I have no doubt there are many other such examples here.
 
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