Had all the test, now waiting for more answers?

[smoki611]

My friend had many blood test, breathing test, MRI of the spine & neck (not the brain and don't know why) EMG (the person who took it asked if she had polio because it looked like post polio & no she never had polio. They said they do no think MS, Lyme, RA. The Neurologist said it is MND & he thinks it is ALS/Life threatening disease, He does not know where to go from there so we are headed to Boston Brigham's & Woman's to a top Neurologist recommended by him. It has taken 3 months to even get this appt in a few weeks. I can't believe that a doctor says it is a life threatening disease take 3 months to see the doctor.
I might add some interesting info. She has had a hard time walking for about 10 years but chalked it up to the weather, age 46! The last year it has got much much worse
She is a size 6, 46 years old. The bottom of her feet this week feels like she is walking on nails. She does have Raynaud's Disease and has that for many years.
One question I do have is can you have these symptoms if it is ALS? How long before if gets worse?
Thank you for any information you can give me.

 

[smoki611]

I'm sorry, I meant to say with these symptoms would they last this long with ALS?

 

[Atsugi]

Smoki, I need to ask you: Are you a relative/friend of someone with ALS? You don't seem very sure, and your description (especially the 10-year part) doesn't sound like ALS, except that you said the "Neurologist said it is MND & he thinks it is ALS."

If your friend had ALS for ten years, they'd most probably be dead or at least seriously disabled in a wheelchair. This case sounds very unusual.

"Average" life expectancy is 2-5 years. Some have been known to go 10. One man seems to be going 40 years, but he hasn't moved an inch of his body for decades.

 

[lgelb]

Smoki,
That would be a very unusual case of ALS so a different nerve or muscle disease is more likely. At any rate, she's headed to a good hospital and hopefully the questions will be answered.

Best,
Laurie

 

[smoki611]

I am sorry, it is my daughter& she is my best friend. That is what I thought too regarding ALS, that it has been going on for a very long time but just getting worse every month for the last year. Like I said he said it is a Muscle Nerve Disease for sure. It is like peeling back an onion, one test at a time. This is taking forever to get a diagnosis! She has to hold on for balance, her neck is killing her & the nail feeling on the bottom of her feet has been worse this month. Does it sound like anything you have heard of? I am new on this site so I appreciate all your help.

 

[affected]

I'm sorry about your daughter.

If this were ALS, it is odd and a very slow progression. I know you feel she should be seen sooner, but ALS is terminal with no treatment, so it's not like seeing her sooner, especially after 10 years of symptoms would do anything for her truly.

Please let us know

 

[smoki611]

Is it the EMG test the final test that confirms you have ALS?

 

[Nikki J]

It depends on the order of the tests. ALS is a diagnosis that involves ruling out other things that may mimic ALS. The process will start with the neurological exam. There are findings on the neuro exam that need to be there for ALS to be on the agenda because ALS involves upper and lower motor neuron disease. The umn is discovered on the exam. What happens next depends on the neurologists. Often the EMG is left for last because if you have the abnormalities on exam and then have an EMG that shows specific patterns of abnormality ( lower motor neuron) IF you have already had other possibilities excluded through MRI, blood tests and sometimes spinal tap then they make the diagnosis. No matter how suspicious the doctor is that this is ALS if your EMG and exam do not meet specific guidelines you will not ( or should not )be diagnosed with ALS. People with PLS on the other hand have abnormal exams but a normal or near EMG because PLS only affects the UMN. If someone has only LMN finding they are termed PMA though they are often just called ALS. There is more to it but this is probably more than you wanted to hear

 

[smoki611]

Thanks Nikki, this is how it went;
Blood test (many) Breathing test, Xrays, MRI's neck & spine, EMG
Neurologist wrote it is definitely a MND & possibly ALS/Life threatening disease
We are now scheduled to go to Boston in 2 weeks to see a top Neurologist
The person that took the EMG said it looks just like Post Polio. She has never had polio but she has all the systems. However, those symptoms seem like ALS symptoms too. Is it possible to just have MND and not have ALS or anything else?
Like everyone else the waiting is killing us to find an answer since September. But as Asugi said above if she has had most symptoms for the ten years (just getting worse every month now) if it was ALS she might be dead by now. Keeping that the doctor knows all this why would he think it is still ALS after 10 years?
Sorry if I have repeated some things.

 

[Nikki J]

In the US MND is an umbrella term encompassing several diseases. If you have ALS you have an MND. In the US the reverse is not true. You might something else like PLS. I have also see the code for MND, other used when the neurologist is quite sure it is going to be ALS but does not meet the criteria.

If all her symptoms have been ALS right along it would be very very unusual. There are long term survivors. I personally know someone aporoaching 25 years with no vent or feeding tube. He is very unusual but even he did not take 10 years to diagnose.
If the person you saw is not a neuromuscular specialist I would hold out hope thisis something else. Remember the label will not change the fact that she has lived with this for a long time and it is slow progression. Who are you seeing inBoston? I think you said B &W? I go to MGH but they are sister hospitals