[John Pollman]

My name is John Pollman and I am 50 years old. (soon to be 51)

A little over three years ago, I went in for a complete physical due to some weakness that I had in my legs. I had a physical on Monday and my doctor ordered an EMG for my legs. I had the EMG early Thursday morning. The doctor doing the test was supposed to just check my legs. But he ended up checking my legs, arms, back, and neck. He didn't say much but told me to go home and he'd give my doctor a call with the results. This was Thursday morning, so I figured I'd hear something on Monday or Tuesday. TWO HOURS later my phone rang and it was my doctor's office. The girl just said "doctor needs to see you ASAP". She asked me to come in the next morning at 8:30 and the doctor would see me. She never said anything about bringing my wife or someone with me.

I got there the next morning and there were several others in the waiting room. I signed in and a soon as I did, the girl behind the counter told me to come right in. THIS DID NOT SOUND GOOD!

I sat down in the examination room, and a few minutes the doctor walked in. He looked at his chart and cut right to the chase. He said "John, from the results of the EMG, it looks like you have ALS." He then followed that up with "If that's the case, there's nothing anyone can do about it". I went numb from head to toe!

There is NO WAY that he (just a GP) had enough info for a diagnosis like that, let alone to tell me in that way, with nobody there for support!

I'm rambling though so I'll wrap it up. So I spent three months thinking that I had about 2 years to live. I ended up seeing a neurologist that said it looked like ALS, but he didn't think so. He sent me to an ALS specialist, and he said the same thing. It turns out that I have Late Onset Tay-Sachs disease! It's an extremely rare form of a disease that normally only affects infants and children and is 100% fatal! Luckily, LOTS isn't generally fatal, but it is degenerative and progressive. I walk with a cane most of the time now, but I'm probably headed for a wheelchair at some point in the future. I'm one of only about 100 confirmed cases in the entire United States.

[mrsD]

Well, that is a harrowing story, John.

I could only recall one other post about LOTS... here:
http://neurotalk.psychcentral.com/sh...ight=tay-sachs

It mentions that it can be confused with myasthenia gravis or MS.

You should find out if you have a hidden B12 deficiency...it can cause progressive neurological failure too. If you were tested and told normal...you might not be. This is because the labs here still report the lows as normal. The new low is 400pg/ml or better. So if you are below that, you need to supplement properly ASAP, before damage is permanent.

This is a sobering video by a nurse and her doctor husband who have written a book about this. In the beginning of a video is
a doctor himself, who fell thru the B12 cracks! That is how common this is:
https://www.youtube.com/watch?v=BvEizypoyO0

This is my B12 informational thread... It is important to take the activated form, and orally will work, if taken on an empty stomach.

I think you should look into this, just in case... look what happened to that doctor in the video!

[John Pollman]

Yes, LOTS is so rare that it is often misdiagnosed. I lucked out and found a very good neurologist who has been specializing in ALS for over 20 years. In that time, he's only seen two other cases of LOTS. I was his third.

I replied to that other thread with some contact info. I have a WONDERFUL support network for Tay-Sachs!

[Lara]

John,

I just wanted to say...

welcome to the NeuroTalk Support Groups.

[Kitt]

Welcome John Pollman.