"Probable" ALS diagnosis (husband)

[amysgarden]

I posted a few months ago regarding my husband and concerns for ALS ~ https://www.alsforums.com/forum/do-i-have-als-als/28271-concern-my-husband.html

We had out 2nd visit with the neurologist at Virginia Mason in Seattle- MRI of head and spine, EMG, results of bloodwork, another physical exam. Neuro said "probable" ALS diagnosis. He said the EMG he performed pointed strongly to ALS with significant changes in ALL areas tested (bilateral hands, arms, left shoulder, back, bilateral lower legs). Blood work was basically negative except for slightly elevated CPK which he said is consistent with ALS. Slightly low B-12 so he will prescribe weekly B-12 shots for one month.

We are to contact him in a month, if no improvement, he will be referred to ALS clinic. He drew more blood (magnesium, A1C, some immune markers) to make sure he hasn't missed anything else that could account for a few of his symptoms.

This turnaround really shocked us as I thought initially he had symptoms consistent with ALS and then the neuro thought maybe more Myasthenia Gravis or Lambert Eaton (which was a big relief the last several weeks). Neuro now states EMG point very firmly away from those diagnoses. Today he felt his reflexes were "brisk" (before they seemed delayed) but the EMG results were very conclusive to ALS. MRI was normal.

He wrote my husband a handicap parking paper. Recommended a second opinion. I asked his if he was confident enough in the diagnosis that we should move up a trip to Hawaii we planned for the fall, he said yes- do it as soon as possible. :shock:

Amy

 

[Nikki J]

Sorry to hear this Amy. Still hope they find something else. Has he had pfts ( sitting and lying)? I read your old thread he was having cpap issues. Cpap is dangerous to PALS so with things looking this way if he has not yet been switched to bipap I would call and ask

 

[Nuts]

Amy, I remember your earlier post. I am so sorry about the turn around. Since there are still other possibilities, I'll keep my fingers crossed. In any case, try to enjoy that trip. Either way, there's no point in allowing worry to ruin it for you. I know that's easier said than done, but do try to have a good trip.

 

[Jeanau]

Sorry for your probable diagnosis. Go on your trip...make memories...love each other! God bless you both.

 

[lgelb]

So sorry to hear this news, Amy-- always available to meet up, lend you a BiPAP, whatever, whenever you're in Seattle.

--Laurie

 

[amysgarden]

EMG report:
REPORT OF FINDINGS:
1. Bilateral radial sensory responses are decreased in amplitude.
2. Bilateral sural sensory responses are decreased in amplitude.
3. Right sural, superficial peroneal sensory response is normal and left superficial peroneal sensory responses are absent.
4. Bilateral ulnar motor studies were normal.
5. Bilateral peroneal motor studies were normal.
6. Bilateral tibial motor studies showed decreased amplitude responses.
7. Electromyography shows widespread denervation in multiple myotomes of the left lower extremity and left upper extremity. Thoracic paraspinals were technically difficult and deep. However, left trapezius, showed denervation change (please see data attached).
ASSESSMENT:
1. Electromyographic abnormalities consistent with widespread motor neuron disease, most consistent with concerns of widespread motor neuron disease. This would fulfill the revised El Escorial electrodiagnostic criteria for ALS. Given patient's hyperreflexia and clinical presentation, ALS would be clinically consistent with these findings.
2. Sensory motor axonal peripheral polyneuropathy, possibly related to patient's underlying diabetes, also with B12 deficiency could be related to this. Clinical correlation advised.

Clinic note (edited for brevity):
Electrodiagnostic studies were performed earlier today and demonstrated evidence of very concerning for ALS with widespread denervation in multiple myotomes. In addition, he has had progression of his symptoms. Laboratory testing revealed elevated CPK also a low B12 level. We will need to address the low B12 level, but I had a frank discussion with the patient and his wife regarding my concerns.
I will recommend some further laboratory testing today, replacement of B12 and have him followup with me regarding his continued symptoms over the next month. Tentatively, if there is no improvement with repletion of B12, we will arrange for further followup in the Multidisciplinary ALS Clinic.

ASSESSMENT: 1. Probable ALS. 2. B12 deficiency.
RECOMMENDATIONS:
1. Expanded laboratory testing, CPK, aldolase, CRP, ANA reflex panel, serum ACE. 2. B12 replacement 1000 mcg IM every week x4 weeks, then every month thereafter. 3. Followup via electronic messaging in 1 month or sooner if he has additional questions.
4. Tentatively, we will be following up in the Multidisciplinary ALS Clinic, if diagnosis is confirmed over the next 4 weeks, and depending on clinical symptoms."

 

[amysgarden]

Labs drawn that day show a CPK of 801 (barely up from 775) - Neuro stated that if the CPK is about the same then it would reinforce the diagnosis of ALS. Also, CRP (measurement of inflammation) is normal- if elevated it would have pointed away from ALS and more toward an autoimmune process like lupus or something.

I have a big glass of wine in hand, feeling pretty anxious. This guy is truly my soulmate, the love of my life. I think he is pretty amazing and my heart breaks for him. He deserves better. I am glad he has me though because I am an amazing nurse and loving wife and we have pretty damn perfect children who have promised to help. If he has to have ALS, we are going to do everything to make it the best experience he could have.

Amy

 

[Gembead]

Love your attitude Amy, sending you hugs.
Love Gem

 

[paulinej]

I am in the same position as you, but my husband was diagnosed a few months ago, my husband Steve is everything to me and i too have this perfect family. How crap this is, I am sorry for all of you. but i am glad i joined here today, it has given me some sort of clarity.

 

[gooseberry]

Interesting so many cals are healthcare workers. That knowledge will help you as you learn the things needed to help your husband. Breathe deep, we are here for you.

 

[BlueandGold]

Amy,

So sorry they are leaning this way. Will be hoping and praying for a different diagnosis. If you do have to join, you will receive no better support than from the wonderful people on this board. Make sure your husband get's involved as well.

Vince