37 yo Husband Referred to clinic yesterday.

[Jen73]

My husband had an EMG yesterday and his Neurologist referred him to our local ALS clinic. He has had a negative MRI of the head and neck. We are waiting that apt at Emory. I have read the second opinion thread. To say the least I am overwhelmed with possibilities. He started this fall with some balance issues and twitching in his hand on his left side.

Please help me know what questions I should be asking?

Can anyone point me to resources that were helpful to you in understanding and coping with this dx?

I am trying to learn as much as I can prior to our apt so that we can make wise decisions when needed.

We are blessed with family and friends that will be more than helpful, but we are keeping this to ourselves until we get this dx confirmed.

Just what I have read on this forum so far has been a huge help!

Thank you in advance,
Jen

 

[Nikki J]

Sorry you are facing this

He was diagnosed with ALS and is referred for care plus second opinion?

The biggest question is was everything else ruled out. There are a lot of blood tests that are usually done. The exact workup is determined by symptoms and clinical presentation but I think all of us had a lot of blood tests- some very specialized and not something that is done initially

You definitely need the opinion of an ALS specialist

It is good you read the second opinion sticky look it over multiple times. The visit will be very emotional no matter what but the better prepared you are the more you will get out of it

 

[Jen73]

The dx reads concerned about ALS with pt info (that is horribly scary) about ALS. His neuro did the EMG/ Nerve receptor test to confirm some type of injury related dx, but the test did not show that. No bloodwork yet, but he has had routine labs with a recent physical. What labs are important?

Thank you for your response.
Jen

 

[Nikki J]

That does not sound like a solid diagnosis so room for hope maybe. I would definitely get the EMG report and the clinical notes ( though you want the full record before you go to Emory) and see exactly what they have found.

The blood tests can vary based on individual patient presentation but aside from the usual blood count, chemistries, thyroid he has likely had things commonly tested are HIV, heavy metals, vitamin levels, lyme, celiac disease, antiGM1 AB panel. Probably some other things depending on symptoms

 

[KimT]

I was also tested for various autoimmune diseases (the specific tests, not ANA), lumbar puncture, muscle biopsy. You said neck and brain MRIs. Did they also do lumbar and thoracic spine MRIs?