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Jjohns

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Hello all,

My name is Josh. I am 39 years old. My family has 4 generations of ALS. My mother has it, my grand-mother died of it, my great grand-father died of it, my great great grand-father is believed to have died of it (but his death certificate says "creeping paralysis") and my mother's cousin from the same line died of it. The men in the family seem to get it younger and die faster than the women.

Approximately 2 years ago I started getting cramps (primarily in my left hand and left calf), but understood the cramps could be caused by anything. Then twitching in the hands, and forearms. Started gettin clumsy, dropping things especially with my left hand. Finally I found I could not lift something I could just a few months prior. My wife and mother convinced me to see a neurologist about a year ago when my wife noted fasciculations in my left forearm and left shoulder and I began to get very fatigued by normal activities of the day. I was resistant because I had not had experienced clinical "weakness" I just subjectively noted a marked decrease in strength. But my mother, an ALS patient, persuaded me.

The doctor performed a physical exam. Not only had I had reflexes checked by my doctors before, but I am a nurse so I have had my reflexes checked many multiples of times during my training. I had never experienced reflexes like I did in that exam, but no weakness. The doctor told me almost immediately that he did not believe I had ALS, but ordered a battery of blood work and an MRI.

At the follow up he said everything looked good and that the blood work and MRI were negative. He then took me in another room to perform an EMG. He did this on my right arm and right leg, which I thought was abnormal since my "symptoms" seemed worse on the left. He told me "at this time you do not have ALS, but I would like to see you back in 3 months".

The three months came and went, the follow up consisted of me reporting more of the same. Maybe a little worse, certainly not better. "See you again in 3 months". No further testing. 2nd follow up was a carbon copy except he seemed to hint that it was in my head, as though I hoped for this God aweful disease I watched consume my grandmother and is ravaging my mother currently. "See you in 3 months".

Now approximately 3 months ago I had that last follow up. We sat in his office. I reported more frequency of dropping things and highly increased frequency of spasms and fasciculations now often in my left pectoral, left deltoid, and left bicep. His response was, "I believe you have benign fasciculation syndrome". I told him I was moving out of state and asked if I needed to establish a neurologist there. He said, "I don't think so." I left feeling stupid for my doubts and fears, for the money I spent seeing a specialist 3 times, and insulted that the symptoms were "in my head".

Here is the rub...in the last 3 months I have dropped from 381 lbs to 347 lbs without any change to my diet or exercise. My "subjective weakness" has become rediculous. A gallon of milk is enormously heavy, my own head seems to weigh a ton. I am pretty sure the lost weight is muscle mass from my chest, shoulders, and upper arms (left being worse than right), my wife says I have choked while eating more in the last 2 months than in our 17 years of marriage. I fatigue so easily and my muscles lose strength and ultimately ache as though I had worked out heavily all day just doing a shift at work or walking around the store.

I saw my new PCP for something else but talked about the weight loss, fatigue, and subjective weakness. He ran tests for electrolytes, diabetes, and thyroid conditions (all negative). He wants me to see a neurologist again. I don't want to go through the humiliation again. I don't have foot drop, I don't fall, I have no problems with buttons. Yes I drop things so often I have changed my practice for administering medication at work so I don't drop them on the floor as often (but I still do a lot).

I have to use a lot of accessory muscles and a lot more effort, but I can do all the activities I used to do. I just went from being a very strong 6ft 4 380lb ex-athlete to struggling to pick up my 1 and 3 year olds. The subjective was dismissed by the previous neuro and often by the members of this forum. So I don't know if it is worth the time and money to go back.

Thoughts, input, or advice?
 
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Hi
First I am confused. You say you were dismissed by forum members? No posts show except this and your testing question. Another id? If so why? Did you forget your access? Multi ids are agsinst the rules but if no intent to deceive and the problem is lost id we will forgive.

I am FALS and I believe that being FALS it is reasonable to check in with a neuro maybe a neuromuscular one if you can find one in your area. Is your listed location your new one? It is more than likely you are ok but the FALS aspect warrants a closer look. I would hope that you would not be humiliated- certainly an ALS specialist who has seen FALS should understand your case is different than those without family history or with one relative only. Your concern is not unreasonable or irrational as your risk in your lifetime is 50 percent as you know. Can you see your mother's doctor?
 
I think seeing your mother's Doctor sounds like a very good idea if it is possible, but yes definitely on a second opinion. I am going to guess what they are looking at is your EMG's are okay and you don't have clear failures in strength/movement. Having so much ALS in your family, I am sure you know it generally starts with the things I have seen, like my husband's foot drop or my friend's husband's sudden inability to raise his arms above his waist. That does not appear to be where you are at, and as you also know I am sure the EMG's basically don't miss on telling you if it could be ALS, and a normal one almost always rules ALS out.

I am sorry for all that your family has been through with FALS. Best wishes to you in getting this sorted out.
 
Hey, Josh. You asked a pretty simple open-ended question and I've got a pretty simple one-line answer.

With your family history, no one could criticize you if you saw a neurologist every year.

That said, it really depends upon the attitude you wish to have. In your situation, I might decide never to see a neurologist, and simply live day by day without even wondering about ALS. If it hits, it hits. But, of course, that's your choice.

Personally, I think I might choose to wake up each morning, see what my sitch is, then make the best of the day. Knowing me, I'm sure I would keep track of my strength each day and keep a diary. My own situation is very different from yours, but if I had your family history I think I would see a counselor just to have someone to talk it out with regularly. But that's me. You choose your own path.

Every human being is terminal. A few people know how they're gonna go and even have some rough idea of the planning horizon. The rest of us go about life like we're immortal. Each is a blessing. With one, you know and you can plan. With the other, you pretend and you're never worried.

Sorry I can't take a firm stance on a single piece of advice. Wishing you good luck and serenity.
 
NikkiJ,
I have not posted on here before and only have this onea account, but I did read through the stickies and some of the other posts on here before posting myself. No one rejected me personally, but I know a lot of what I am experiencing is subjective at this point and subjective symptoms get quickly debunked.
Thank you for your response :)
 
Mike,
Thank you. After my first visit to the neurologist I kind of determined this is what I should do. Just take it a day at a time. Now my PCP wants me to go back. I also worry because the genetic marker for the ALS in my family is not known at this time, my grandmother died before they did this testing and my mother had a panel of something like 7 markers drawn but it was negative. I have 7 children and would like to learn what I can as quickly as possible. I sure appreciate your counsel and think it is sound.
 
Hi, Josh. I'm sorry to hear about your family hx and current issues. Without any EMG reports or chart notes, I don't know if any objective findings have surfaced over the last 2y. If you have fALS or sALS for that matter, you are progressing slowly. Is it impossible that your weight loss corresponds to a better diet or activity regimen? Either way, you are the better for it.

The main concern for me would be that something treatable not be overlooked, e.g. an immune-mediated neuropathy. I would approach the differential from that standpoint if you see someone new. Empirically, when I hear about dropping things with one hand, I think about focal lesions like carpal tunnel syndrome. Fatigue, clumsiness and weakness can also relate to disturbed sleep. With your weight, have you been evaluated for sleep disorders?

I would establish care with a neuro on your hx alone, but not go in ready to be humiliated, rather to be re-evaluated as is appropriate in your case, e.g. at the University if you are in Utah. And if you have not had a sleep study, I would consider asking for one. You can take the Epworth sleep screen on line to see if that might be indicated for you.

Best,
Laurie
 
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