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jnikes

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Hi all,

Thank you in advance for taking the time to read this. I am going to do my best to keep this succinct. Any help and feedback is tremendously appreciated.

Here is what's going on:

In 2011 I lost my mother to ALS. In 2009 my grandmother passed away from MS.

I am 26 years old, and living in NYC. About July 1, 2017 I was on vacation with a few friends when I noticed a sluggishness in my left hand. I thought very little of it as it was not very bothersome when it first occurred. About a week later I was back home in NY and noticed the same sort of feeling in my right hand. Then the concern set in.. I had lived for the last 6 years without my mother having no concern about FALS. She was tested in 2011 and did not carry the genetic form of the disease.

So now I'm freaking out. I realize I had been living my life on autopilot for the last year. Working at a job that was intensely stressful, surviving on coffee and fumes, and partying with my friends on the weekends. The weeks pass in July and the symptoms worsen. I feel my hands gradually slowing down more. I have a certain clumsiness when I walk that I have never felt before. A level of fatigue that is like nothing I have experienced before either. If I go for a long walk I get back home and my legs feel like they are burning on the inside... I feel like I am existed in a consistent state of brain fog. My body just generally is not moving as quickly and swiftly as it once did and I tire much faster than I used to. Also, muscle twitches all over my body. Never seem to be isolated, just a random twitch here and there for no apparent reason from my neck down to my toes.

So I have a visit with one neurologist. After a few appointments, checking for carpal tunnel, MRI on my brain, and a number of blood tests, all come back normal. This neuro was young and wasn't taking the fact that my mother had ALS very seriously. She was basing this all on the fact that the chances of a 26 year old being diagnoses are so slim and seemed to believe this is psychosomatic.

About three weeks ago I go to another neuro. He does the nerve conduction study and EMG. EMG comes back clean and he says no ALS. Nerve study comes back with two results for my right hand on the very low end of average. Neuro Diagnoses me with "hand weakness". Tells me to take Vitamin E, to exercise, and not to smoke (I'm not a smoker but have occasionally smoked cigarettes here and there). He ends the appointment by saying "they found a new familial gene in 2013 so we can't rule out the familial link. If you have concerns about this in the future you can come back." No offer of any other specialist to see, no other explanations for what I'm experiencing. As my hands continue to decline in dexterity I don't know what else to do... Looking for answers but can;t even get in to see another neuro for 2-3 months. Literally they are all booked.

I am looking for answers and not sure where to go from here? Are there any other clinical or diagnostic explanations for whats going on? If so, what type of specialist should I see? Thank you for reading and I look forward to your replies.

Yours,

Jeff
 

Nikki J

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I would suggest going to your pcp. Your emg was normal and your symptom description does not sound like ALS

I am sorry about your mom and grandmother. First, if you have one relative with ALS your lifetime risk is only minimally above someone with no relative - so low not worth worrying about.

I understand your concern is that there is a shared genetic issue that affected your mom and her mom that you inherited. None of the known ALS genes ( there are quite a few now) have a clear pattern of MS and ALS but there is thought of some possible link among neurodegenerative diseases in the family.

I am not sure what the 2013 discovery referred to might be. In 2012 a commercial test came out for c9 orf 72 which was discovered in late 2011. It is the most common genetic cause of FALS and does seem to manifest as other neurodegenerative diseases too though I don't think MS has been noted particularly. Still it would be the likely culprit IF ( big if) there were a common genetic defect. The thing is c9orf72 does not affect 26 yos. It just doesn't. It isn't seen before 35. This is according to doctors and geneticists. This is not just my experience. Sorry you were not reassured by your neuros but as I said go to your pcp and let them help
 

jnikes

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Hi Nikki,

Thank you for the insight. Super helpful and reassuring. I will go in for a visit with my PCP.

What is most concerning is that my hands seem to be getting progressively worse. Things like manipulating my house keys in my hand, getting things out of my wallet, I'm dropping things more often, missing my mouth when I try and drink water from a glass. My fingers are not as nimble and it seems like the more I use them the more sort of 'stuck' they get. they tend to perform better again after rest, like they function a bit better in the morning than at end of day. Exercise also makes them very sluggish and clumsy. Does this sound like anything you're familiar with or anything that may mimic ALS?

Another important piece that I left out is my breathing has been weaker. I find myself short of breath more often and can't take a full breath in the way I used to. If I'm walking and talking I need to pause and catch my breath in between words. My voice also gets weak and hoarse as the day goes on.. It's like it slowly runs out of gas and gets quieter and quieter and I find myself straining to speak louder. I thought this further explanation might be helpful.

Thanks for reading - I'm in this relatively alone right now and it's been lonely to navigate. My father died from cancer when I was 9 as well and I'm an only child. Any further ideas/recommendations from you or others on the forum is greatly appreciated.

Best,

Jeff
 

jnikes

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Thanks Nikki
 

jnikes

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Hello,

Thank you for taking the time to read this. I am bumping this post back up because I believe the added symptoms below that I did not include in the first post may be important.. Also, looking for some advice for some upcoming doctor's appointments.

I set an internist appointment tomorrow per your rec, Nikki; a new neurologist recommended by a family friend for next week; and a functional medicine internist. Does anyone have any recommendations to prepare for any of these appointments? Any specific questions to ask? I have created a log of my symptoms in chronological order of onset. Wondering if there is anything else I should be doing?

Thanks in advance,

Jeff
 

lgelb

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I think you got your answer, Jeff, but in answer to your questions on questions to ask, you might want to have a look at the sticky on second opinions. Please, no more bumping -- hard enough for our users to read threads without it.

Best,
Laurie
 

jnikes

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Thank you for the information Laurie. I will take a look at the sticky.

Best,

Jeff
 

jnikes

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Quick recap: Noticed sluggishness in hands in July, began to feel unsteady on my feet about a month ago, difficulty breathing during 'normal' activities (walking to the store, light workout), Mom died from ALS at 52.

Update:

Thanks everyone who has been involved in this conversation. Since my last post I have taken advice from Nikki J and went to my internist. He did a quick examination and recommended I get another opinion from a neurologist based on how I'm feeling. My internist ran the gamut of blood work and everything came back normal. All vitamin levels, thyroid, etc - nothing outstanding.

Went to see a neuromuscular specialist in New York City. We did a physical exam in which he asked me to walk in a straight line, tested strength of all my limbs, physically watched my body for muscle fasciculations for a few minutes. No fasciculations occurred when he was looking at my body. Reviewed the EMG and nerve conduction study that my previous neurologist had done. Said there was one finding on the EMG labels a "+1" and he doesn't even mark "+1" on an EMG for his patients.. (Not sure what that even means). Bottom line: My hands are not working and continue to get more debilitated. I demonstrated the below video to the doctor to show him what the major concern is here (grabbing the correct key from my key chain and other similar daily tasks that have become problematic). The doctor saw the way my hands function and ruled it as stress related. His directives were to get back to work and get a less stressful job and I will be fine and things will subside... So again I'm left with no answers and no direction other than avoid stress..?

First off, I am grateful to have not been given a diagnosis like ALS. I'm not on here looking to be sick, and I get that stress can do strange things to the body. However, when you explain to a doctor that you're getting short of breath regularly, feel off balance when you're walking, regularly dropping things when performing daily tasks, unable to play a guitar for five minutes before your fingers stop moving....how is there not more of a concern that something serious is going on and no other direction given? Also, was tested for carpal tunnel a month ago and that was ruled out.

The symptoms have been progressive and I am concerned without any sort of guidance or diagnosis if this goes untreated I may have irreparable damage from whatever this is.. Has anyone ever heard of these types of symptoms occurring due to stress? Has anyone on this forum had this issue and it just resolved itself and then deemed it to be solely stress related? Are there any recommendations as far as supplements or general lifestyle directives that may be helpful for what I am experiencing? I have given up alcohol and eat healthy (which I have always done anyway).

Or do I need to go find another doctors?? Any guidance is greatly appreciated.

Here is the video of my hands: https://www.youtube.com/watch?v=dgh2tQxdiDA&sns=em

Thank you,

Jeff
 

Atsugi

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Couple things, Jeff. Your post sounded more stressy and not ALSy. Your neurologist thought so, too.

Is it possible the neuro was wrong? And the EMG to be wrong? Sure. Get a second opinion, but only from a neurologist who specializes in ALS. You won't be satisfied otherwise.

You said you needed a diagnosis soon so it doesn't become irreparable. But if your problems are, in fact, caused by ALS, there's not a damn thing anyone can do about it no matter whether you're diagnosed early, late, or never. The prognosis is the same in ALS.

Nikki, Laurie, me, and your neuro agree--not likely to be ALS at all. Nope, nope.
 

Nikki J

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You've seen three neuros the last was a neuromuscular specialist. To me that seems enough. Go back to your pcp who now should have the reports. If your pcp says more neuro opinions I suppose you could try but it seems like overkill. Your pcp will either agree with the neuro, explore another direction or least likely keep sending you to different neuros
 

jnikes

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Atsugi, and Nikki, thank you for your replies.

@Atsugi, what I mean by diagnosis is hopefully there is an alternative reason I am having these symptoms, and if so I want to get to the bottom of it ASAP as it has just continued to get worse. As you all on the forum plus my neuros agree it is so unlikely this is ALS, but none of the doctors have offered any other logical explanations to what's going on, besides stress.

@Nikki, yes I agree continuing to get more opinions from neuros may be overkill at this point. The previous neuro that did my EMG was an ALS specialist.

So from here I am going to set a follow up with the ALS specialist maybe in November or December as an insurance policy because they book out for months, and just try to get on with my life and ignore the symptoms..

Thank you all for your continued support and guidance. Any other recommendations from those that may have been in a similar situation or have had symptoms labeled as stress, your advice is welcomed. Hopefully by the time the appointment comes around this will all have subsided and I can cancel it.

Wishing you all the best.

Jeff
 

Atsugi

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Jeff, if three doctors who specialize in understanding the nervous system all say that your problem is stress--what used to be called "nerves"--then I think you have got your answer. See your PCP. Be open to seeing a psychiatrist. They can work wonders.
 
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