Husband with many ALS symptoms but no diagnosis

[Mellen]

My husband began experiencing some memory issues and executive functioning deficits, and drooling (not excess saliva) about 10 months ago (this is the only thing that has improved) we also noticed all over muscle wasting with worse wasting L leg, had cramps in his leg (worse at night) in the early summer he noticed L leg weakness, twitching, Multiple blood tests (every possible explanation that could be ruled out by labs), X-rays, MRIs, all showed no reason for symptoms
Exam by Cleveland Clinic Neuro showed upper and lower motor neuron ax in 2 of 4 regions and lower motor neuron in a third
Then we went for EMG!
It was over quickly and 100 miles into the drive home we realized they only tested his Left arm and leg in spite of the NMD protocol ordered
Dr Tavee did not do it
We had to turn around and go back
She was very frustrated and quickly and very roughly did some facial and tongue
He had some minimal numbness in his L foot but has been a well controlled type Ii diabetic for 10 plus years
She sent a report that was for the RIGHT side without all muscles reported
Two minor non sustained abnormalities in mentalis and thoracic muscles (
Myokymia) now we cannot get back on the track for diagnosis! It has been hard to get the report corrected
We just got back from 6 hour drive, overnight stay and a movement disorder specialist said he didn't have Parkinson's . We never thought he did
He has a significant positive Rhomberg test also and his symptoms of muscle cramps, increasing weakness now some in L hand are gradually worsening
Drooling still present, increase fumbling with hands, fell 1 week ago
I am absolutely convinced it's ALS and know there is no cure/treatment but I hate to see him waste this time when he is mobile with him working 12 hours a day because we have no diagnosis
Any suggestions would be helpful

 

[Mellen]

Sorry I should have proofed this. I got a telephone call and some of the narrative is disjointed. I can't figure out how to edit it.

 

[Nikki J]

You may not be able to edit at all as a newbie but anyway edit is only possible for a few minutes after posting for any member. So please put any clarifications in another post. I believe another member had issues with Cleveland clinic. Consider going elsewhere as I would have a hard time trusting after all that! UVA might be a choice or since you are willing to travel Duke or Hopkins.

 

[Michellesews]

Bless you heart, both of you! I hope it is NOT ALS but I can say from experience that the road to diagnosis is fraught with this type of thing. We were sent for upper and lower EMG and the doc took it upon himself to only do the upper and pronounce there were pinched nerves in his neck. He had surgery when the weakness and drop foot had already been going on for a year! Unfortunately it takes a long time and multiple symptoms before the ugly head of ALS reveals itself...I'm sad that you are having to jump through all the flaming hoops that most of us here have had to jump through as well. Stay strong and MAKE them do what they are supposed to do. You will feel like just giving up many times but rest assured, if it is ALS, you will know eventually. God bless you. We all know what you're going through!
Michelle

 

[Atsugi]

I think you're scared and worried about the worst case scenario. You don't have enough information to call it yet.
Good luck.

 

[BlueandGold]

I was misdiagnosed with cervical stenosis by Cleveland. Bad experience for me. I live in WV and go to Duke. That would be much closer for you being in Wythville, VA.

Best of luck to you both. Hope you don't have to join us here.

Vince

 

[affected]

I hope you can find the correct diagnosis.

I'm a little confused that someone with memory and executive function issues is working 12 hours a day? What does he do 12 hours a day for a job?

 

[Mellen]

You would have to know my steel willed husband who is in full blown denial to fully understand!

 

[Mellen]

Who was your neurologist?

 

[BlueandGold]

Mellen not sure if your question was directed at me but neuro who saw me at CC was John Morren. Robert Shields did EMG.

Vince

 

[Mellen]

I remember you because CC would not give you the tracing results of your EMG. We could not get those either. Dr Tavee did the EMG but (by her admission) she didn't read the order and only did his L leg and L arm. He was ordered the full NMD protocol. We were about 100 miles away and had to turn around. Dr Tavee was angry and very hurriedly did his mentalis, inoculates, and tongue. We did get a report but it was on his R arm and R leg with none of the facial muscles. However Dr Tavee said in spite of a few abnormalities he "did not have ALS" today. We have not gotten an answer although his progressing symptoms of painless asymmetrical muscle weakness with atrophy and pathological reflexes exaggerated jaw jerk, and Babinski point to ALS. Fasications, muscle cramps in now both legs and L hand with some FTD signs all point to ALS
I'm about ready to go crazy! Dr Morren sent us to a movement disorder specialist 2 weeks ago where we were told he doesn't have PD (no one thought he did) and he suggested it could be malnutrition. They tested B vitamins (which of course had been tested previously). They were all normal as they had been 6 months ago. I recall you had a similar story prior to your diagnosis.

 

[BlueandGold]

I don't like ALS Clinics, period. I've been to 3 and just don't think there is much to offer us. However, if you are looking for a second opinion or a confirming diagnosis, you should go to Duke. It would be a much shorter trip for you and they are pretty damn smart.

Don't keep waiting for things to just get worse.

Vince

 

[Mellen]

All I want is a diagnosis. I do realize the journey is long for most of those with this disorder.
I am a nurse practitioner who now feels like an expert on neuromuscular diseases. Having never had a patient with this disorder I have read hundreds of pages of both academic and anecdotal theories, research, symptoms, differential diagnoses, treatment options (basically none).
My husband has the following
1. Fluctuating FTD symptoms
2. Muscle weakness L leg especially foot and thigh
3. Some weakness L hand with fumbling
4. Intermittent fasiculations in L arm and leg
5. Moderate weakness of cheek and chin muscles with drooling and chin drop.
6. Muscle wasting in every muscle (slightly worse in L leg and L arm)
7. Stooped posture
8. Protruding abdomen
9. Positive Babinski, positive jaw jerk,
10. TERRIBLE balance
Confounding symptoms are some numbness L foot but he has been a diabetic for 10+ years, and positive Romberg.
All diagnostic tests are negative. We have had every test imaginable except a muscle biopsy!
Common to ALS patients his creatinine is low (shows muscle wasting)
He has every risk factor except military service. He played football 6th grade through graduation and had several concussions and the type of intense "boot camp" training that can also be a risk. His EMG showed only the following
Single run brief insertional positive sharp waves in T10, mentalist showed mild neurogenic recruitment with a train of myokymic discharges. Reads as follows "while there are scattered active/chronic motor axon loss changes through out all segments they are insufficient for the diagnosis of MND".

 

[4tloml]

Mellon, I really understand your frustration and fear. If it is ALS, you just want the docs to "name the beast" so to speak, to get out of this diagnostic limbo and begin what treatment is possible (although there's not much). A big push for us, too, was getting my husband (PALS) onto disability after he was coming home completely exhausted and grey every night, and it seems you're looking for that.

Sounds like you really do need a reputable clinic to do a complete evaluation. As a nurse, you know all the language and tests. Maybe it's time to find a doctor who will sit down with you with the El Escorial Criteria and all your husband's test results to show you exactly what does and does not line up with your husband's symptoms and those results in an effort to understand why your husband is or is not being diagnosed with ALS. One thing, though, is that diabetic neuropathy can really complicate the early ALS EMG picture, and no good doc wants to diagnose ALS without solid evidence.

Wishing you the best, including an explanation other than ALS. But if that is what it is, the saying around here (all honors to MAX) is, "It is what it is." And if it is, there is lots of support here. Keeping fingers crossed for you.

 

[BlueandGold]

Mellon I got that same reply on my EMG report from CC, "insufficient for a diagnosis of MND at this time". I understand what you are going through. I pray you get a different diagnosis, however if it is ALS, there are so many things that you need to prepare for so a firm diagnosis is crucial.

Vince.